{"data_date":"2026-11-09","library_size":29780,"matched_against":"each record's title and abstract (summary field), case-insensitive","n":563,"page":"https://alzhub.org/answers/early-onset-alzheimers","query":"title or abstract mentions \"early-onset\", \"young-onset\" or \"younger-onset\" Alzheimer's/dementia, \"EOAD\", \"YOAD\", \"autosomal dominant Alzheimer\", \"before/under the age of 65\" or \"under 65\"","studies":[{"alzhub_score":61,"alzhub_url":"https://alzhub.org/study/pittsburgh-plasma-p-tau217-classification-accuracies-for-autosomal-e4bc0f72","doi":null,"journal":"Alzheimer's & Dementia","n_participants":363,"pmid":null,"source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12263344/","study_design":"cross-sectional","title":"Pittsburgh plasma p-tau217: Classification accuracies for autosomal dominant and sporadic Alzheimer's disease in the community","title_match":false,"year":2025},{"alzhub_score":74,"alzhub_url":"https://alzhub.org/study/global-prevalence-of-young-onset-dementia-a-systematic-review-and-4479c0b0","doi":null,"journal":"JAMA Neurology","n_participants":2760379,"pmid":null,"source_url":"https://pubmed.ncbi.nlm.nih.gov/34279544/","study_design":"meta-analysis","title":"Global Prevalence of Young-Onset Dementia: A Systematic Review and Meta-analysis","title_match":true,"year":2021},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/global-burden-of-young-onset-dementia-from-1990-to-2021-an-age-period-b43e77ef","doi":null,"journal":"Translational Psychiatry","n_participants":null,"pmid":null,"source_url":"https://www.nature.com/articles/s41398-025-03275-w","study_design":"modelling","title":"Global burden of young-onset dementia, from 1990 to 2021: an age-period-cohort analysis from the global burden of disease study 2021","title_match":true,"year":2025},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/tablet-based-cognitive-assessment-in-a-multisite-study-of-early-onset-b808c263","doi":null,"journal":"Alzheimer's & Dementia (AAIC 2025 conference abstract)","n_participants":475,"pmid":null,"source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12740393/","study_design":"cross-sectional","title":"Tablet-based cognitive assessment in a multisite study of early-onset AD: association with pen-and-paper tests and PET measures of amyloid and tau","title_match":true,"year":2025},{"alzhub_score":66,"alzhub_url":"https://alzhub.org/study/serum-neurofilament-dynamics-predicts-neurodegeneration-and-clinical-9106bc9f","doi":null,"journal":"Nature Medicine","n_participants":405,"pmid":null,"source_url":"https://pubmed.ncbi.nlm.nih.gov/30664784/","study_design":"cohort","title":"Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer's disease","title_match":false,"year":2019},{"alzhub_score":72,"alzhub_url":"https://alzhub.org/study/risk-factors-for-young-onset-dementia-in-the-uk-biobank-38147328","doi":"10.1001/jamaneurol.2023.4929","journal":"JAMA Neurology","n_participants":356052,"pmid":"38147328","source_url":"https://pubmed.ncbi.nlm.nih.gov/38147328/","study_design":"cohort","title":"Risk Factors for Young-Onset Dementia in the UK Biobank","title_match":true,"year":2024},{"alzhub_score":65,"alzhub_url":"https://alzhub.org/study/risk-factors-for-early-onset-and-late-onset-dementia-a-prospective-41936382","doi":"10.1016/j.lanhl.2026.100831","journal":"The lancet. Healthy longevity","n_participants":544442,"pmid":"41936382","source_url":"https://pubmed.ncbi.nlm.nih.gov/41936382/","study_design":"cohort","title":"Risk factors for early-onset and late-onset dementia: a prospective cohort study","title_match":false,"year":2026},{"alzhub_score":72,"alzhub_url":"https://alzhub.org/study/apoe3-christchurch-heterozygosity-and-autosomal-dominant-alzheimer-s-38899694","doi":"10.1056/NEJMoa2308583","journal":"New England Journal of Medicine","n_participants":1077,"pmid":"38899694","source_url":"https://pubmed.ncbi.nlm.nih.gov/38899694/","study_design":"cohort","title":"APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease","title_match":true,"year":2024},{"alzhub_score":59,"alzhub_url":"https://alzhub.org/study/resilience-to-autosomal-dominant-alzheimer-s-disease-in-a-reelin-37188781","doi":"10.1038/s41591-023-02318-3","journal":"Nature Medicine","n_participants":null,"pmid":"37188781","source_url":"https://pubmed.ncbi.nlm.nih.gov/37188781/","study_design":null,"title":"Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man","title_match":true,"year":2023},{"alzhub_score":60,"alzhub_url":"https://alzhub.org/study/novel-early-onset-alzheimer-associated-genes-influence-risk-through-40556318","doi":"10.1002/alz.70377","journal":"Alzheimer's & Dementia","n_participants":25236,"pmid":"40556318","source_url":"https://pubmed.ncbi.nlm.nih.gov/40556318/","study_design":"case-control","title":"Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracellular signaling pathways","title_match":true,"year":2025},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/app-antisense-oligonucleotides-reduce-amyloid-aggregation-and-rescue-38527856","doi":"10.1093/brain/awae092","journal":"Brain","n_participants":null,"pmid":"38527856","source_url":"https://pubmed.ncbi.nlm.nih.gov/38527856/","study_design":null,"title":"APP antisense oligonucleotides reduce amyloid-\u03b2 aggregation and rescue endolysosomal dysfunction in Alzheimer's disease","title_match":false,"year":2024},{"alzhub_score":82,"alzhub_url":"https://alzhub.org/study/prevalence-of-amyloid-pet-positivity-in-dementia-syndromes-a-meta-25988463","doi":"10.1001/jama.2015.4669","journal":"JAMA","n_participants":377,"pmid":"25988463","source_url":"https://pubmed.ncbi.nlm.nih.gov/25988463/","study_design":"meta-analysis","title":"Prevalence of amyloid PET positivity in dementia syndromes: a meta-analysis","title_match":false,"year":2015},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/csf-neurofilament-light-differs-in-neurodegenerative-diseases-and-25339208","doi":"10.1212/wnl.0000000000001015","journal":"Neurology","n_participants":478,"pmid":"25339208","source_url":"https://pubmed.ncbi.nlm.nih.gov/25339208/","study_design":null,"title":"CSF neurofilament light differs in neurodegenerative diseases and predicts severity and survival","title_match":false,"year":2014},{"alzhub_score":63,"alzhub_url":"https://alzhub.org/study/plasma-neurofilament-light-chain-in-the-presenilin-1-e280a-autosomal-32470423","doi":"10.1016/s1474-4422(20)30137-x","journal":"The Lancet. Neurology","n_participants":null,"pmid":"32470423","source_url":"https://pubmed.ncbi.nlm.nih.gov/32470423/","study_design":"cohort study","title":"Plasma neurofilament light chain in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional and longitudinal cohort study","title_match":true,"year":2020},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/brain-imaging-and-blood-biomarker-abnormalities-in-children-with-26121081","doi":"10.1001/jamaneurol.2015.1099","journal":"JAMA neurology","n_participants":null,"pmid":"26121081","source_url":"https://pubmed.ncbi.nlm.nih.gov/26121081/","study_design":"cross-sectional","title":"Brain Imaging and Blood Biomarker Abnormalities in Children With Autosomal Dominant Alzheimer Disease: A Cross-Sectional Study","title_match":true,"year":2015},{"alzhub_score":62,"alzhub_url":"https://alzhub.org/study/comparison-of-csf-biomarkers-in-down-syndrome-and-autosomal-dominant-34302786","doi":"10.1016/s1474-4422(21)00139-3","journal":"The Lancet. Neurology","n_participants":41,"pmid":"34302786","source_url":"https://pubmed.ncbi.nlm.nih.gov/34302786/","study_design":"cross-sectional","title":"Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer's disease: a cross-sectional study","title_match":true,"year":2021},{"alzhub_score":60,"alzhub_url":"https://alzhub.org/study/comparison-of-amyloid-burden-in-individuals-with-down-syndrome-versus-36517172","doi":"10.1016/s1474-4422(22)00408-2","journal":"The Lancet. Neurology","n_participants":216,"pmid":"36517172","source_url":"https://pubmed.ncbi.nlm.nih.gov/36517172/","study_design":"cross-sectional","title":"Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study","title_match":true,"year":2023},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/cotton-wool-plaques-in-non-familial-late-onset-alzheimer-disease-11706935","doi":"10.1093/jnen/60.11.1051","journal":"Journal of neuropathology and experimental neurology","n_participants":null,"pmid":"11706935","source_url":"https://pubmed.ncbi.nlm.nih.gov/11706935/","study_design":null,"title":"Cotton wool plaques in non-familial late-onset Alzheimer disease","title_match":false,"year":2001},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/autosomal-dominant-and-sporadic-late-onset-alzheimer-s-disease-share-35580594","doi":"10.1093/brain/awac181","journal":"Brain : a journal of neurology","n_participants":559,"pmid":"35580594","source_url":"https://pubmed.ncbi.nlm.nih.gov/35580594/","study_design":null,"title":"Autosomal dominant and sporadic late onset Alzheimer's disease share a common in vivo pathophysiology","title_match":false,"year":2022},{"alzhub_score":67,"alzhub_url":"https://alzhub.org/study/comparison-of-tau-spread-in-people-with-down-syndrome-versus-38631766","doi":"10.1016/s1474-4422(24)00084-x","journal":"The Lancet. Neurology","n_participants":137,"pmid":"38631766","source_url":"https://pubmed.ncbi.nlm.nih.gov/38631766/","study_design":"cohort study","title":"Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study","title_match":true,"year":2024},{"alzhub_score":63,"alzhub_url":"https://alzhub.org/study/comparative-neurofilament-light-chain-trajectories-in-csf-and-plasma-39557867","doi":"10.1038/s41467-024-52937-8","journal":"Nature communications","n_participants":567,"pmid":"39557867","source_url":"https://pubmed.ncbi.nlm.nih.gov/39557867/","study_design":"cross-sectional","title":"Comparative neurofilament light chain trajectories in CSF and plasma in autosomal dominant Alzheimer's disease","title_match":true,"year":2024},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/amyloid-imaging-of-dutch-type-hereditary-cerebral-amyloid-angiopathy-31361916","doi":"10.1002/ana.25560","journal":"Annals of neurology","n_participants":null,"pmid":"31361916","source_url":"https://pubmed.ncbi.nlm.nih.gov/31361916/","study_design":"longitudinal study","title":"Amyloid imaging of dutch-type hereditary cerebral amyloid angiopathy carriers","title_match":false,"year":2019},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/comparing-cortical-signatures-of-atrophy-between-late-onset-and-33395982","doi":"10.1016/j.nicl.2020.102491","journal":"NeuroImage. Clinical","n_participants":588,"pmid":"33395982","source_url":"https://pubmed.ncbi.nlm.nih.gov/33395982/","study_design":null,"title":"Comparing cortical signatures of atrophy between late-onset and autosomal dominant Alzheimer disease","title_match":true,"year":2020},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/resting-state-functional-connectivity-disruption-as-a-pathological-33430685","doi":"10.1089/brain.2020.0808","journal":"Brain connectivity","n_participants":171,"pmid":"33430685","source_url":"https://pubmed.ncbi.nlm.nih.gov/33430685/","study_design":"cross-sectional","title":"Resting-State Functional Connectivity Disruption as a Pathological Biomarker in Autosomal Dominant Alzheimer Disease","title_match":true,"year":2021},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/assessing-amyloid-pet-positivity-and-cognitive-function-in-down-38940611","doi":"10.1002/alz.14068","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"38940611","source_url":"https://pubmed.ncbi.nlm.nih.gov/38940611/","study_design":"cross-sectional","title":"Assessing amyloid PET positivity and cognitive function in Down syndrome to guide clinical trials targeting amyloid","title_match":false,"year":2024},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/diffusion-tensor-mri-structural-connectivity-and-pet-amyloid-burden-34636637","doi":"10.1148/radiol.2021210383","journal":"Radiology","n_participants":null,"pmid":"34636637","source_url":"https://pubmed.ncbi.nlm.nih.gov/34636637/","study_design":"cross-sectional","title":"Diffusion Tensor MRI Structural Connectivity and PET Amyloid Burden in Preclinical Autosomal Dominant Alzheimer Disease: The DIAN Cohort","title_match":true,"year":2022},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/advanced-structural-brain-aging-in-preclinical-autosomal-dominant-38111006","doi":"10.1186/s13024-023-00688-3","journal":"Molecular neurodegeneration","n_participants":null,"pmid":"38111006","source_url":"https://pubmed.ncbi.nlm.nih.gov/38111006/","study_design":null,"title":"Advanced structural brain aging in preclinical autosomal dominant Alzheimer disease","title_match":true,"year":2023},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/dyrk1a-and-activity-dependent-neuroprotective-protein-comparative-35740400","doi":"10.3390/biomedicines10061380","journal":"Biomedicines","n_participants":null,"pmid":"35740400","source_url":"https://pubmed.ncbi.nlm.nih.gov/35740400/","study_design":"cross-sectional","title":"DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patients","title_match":false,"year":2022},{"alzhub_score":42,"alzhub_url":"https://alzhub.org/study/strong-diagnostic-performance-of-plasma-ptau217-for-csf-biomarker-39666133","doi":"10.1007/s00415-024-12732-3","journal":"Journal of neurology","n_participants":null,"pmid":"39666133","source_url":"https://pubmed.ncbi.nlm.nih.gov/39666133/","study_design":null,"title":"Strong diagnostic performance of plasma ptau217 for CSF biomarker-defined young-onset Alzheimer disease in a diagnostically heterogeneous clinical cohort","title_match":true,"year":2024},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/the-genetics-of-alzheimer-disease-back-to-the-future-20955934","doi":"10.1016/j.neuron.2010.10.013","journal":"Neuron","n_participants":null,"pmid":"20955934","source_url":"https://pubmed.ncbi.nlm.nih.gov/20955934/","study_design":null,"title":"The genetics of Alzheimer disease: back to the future","title_match":false,"year":2010},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/apoe-and-alzheimer-disease-a-major-gene-with-semi-dominant-inheritance-21556001","doi":"10.1038/mp.2011.52","journal":"Molecular psychiatry","n_participants":null,"pmid":"21556001","source_url":"https://pubmed.ncbi.nlm.nih.gov/21556001/","study_design":null,"title":"APOE and Alzheimer disease: a major gene with semi-dominant inheritance","title_match":false,"year":2011},{"alzhub_score":75,"alzhub_url":"https://alzhub.org/study/symptom-onset-in-autosomal-dominant-alzheimer-disease-a-systematic-24928124","doi":"10.1212/wnl.0000000000000596","journal":"Neurology","n_participants":3275,"pmid":"24928124","source_url":"https://pubmed.ncbi.nlm.nih.gov/24928124/","study_design":null,"title":"Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis","title_match":true,"year":2014},{"alzhub_score":69,"alzhub_url":"https://alzhub.org/study/cerebrospinal-fluid-soluble-trem2-is-higher-in-alzheimer-disease-and-26754641","doi":"10.1007/s00401-016-1533-5","journal":"Acta neuropathologica","n_participants":180,"pmid":"26754641","source_url":"https://pubmed.ncbi.nlm.nih.gov/26754641/","study_design":"case-control study","title":"Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status","title_match":false,"year":2016},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/early-onset-alzheimer-disease-and-its-variants-30707186","doi":"10.1212/con.0000000000000687","journal":"Continuum (Minneapolis, Minn.)","n_participants":null,"pmid":"30707186","source_url":"https://pubmed.ncbi.nlm.nih.gov/30707186/","study_design":null,"title":"Early-onset Alzheimer Disease and Its Variants","title_match":true,"year":2019},{"alzhub_score":51,"alzhub_url":"https://alzhub.org/study/contribution-to-alzheimer-s-disease-risk-of-rare-variants-in-trem2-28789839","doi":"10.1016/j.neurobiolaging.2017.07.001","journal":"Neurobiology of aging","n_participants":null,"pmid":"28789839","source_url":"https://pubmed.ncbi.nlm.nih.gov/28789839/","study_design":null,"title":"Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls","title_match":false,"year":2017},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/genetic-association-between-intronic-polymorphism-in-presenilin-1-8596269","doi":"10.1016/s0140-6736(96)91140-x","journal":"Lancet (London, England)","n_participants":29,"pmid":"8596269","source_url":"https://pubmed.ncbi.nlm.nih.gov/8596269/","study_design":null,"title":"Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Alzheimer's Disease Collaborative Group","title_match":false,"year":1996},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/trem2-is-associated-with-the-risk-of-alzheimer-s-disease-in-spanish-23391427","doi":"10.1016/j.neurobiolaging.2012.12.018","journal":"Neurobiology of aging","n_participants":null,"pmid":"23391427","source_url":"https://pubmed.ncbi.nlm.nih.gov/23391427/","study_design":null,"title":"TREM2 is associated with the risk of Alzheimer's disease in Spanish population","title_match":false,"year":2013},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/clinical-features-and-apoe-genotype-of-pathologically-proven-early-21576687","doi":"10.1212/wnl.0b013e31821a44dd","journal":"Neurology","n_participants":37,"pmid":"21576687","source_url":"https://pubmed.ncbi.nlm.nih.gov/21576687/","study_design":null,"title":"Clinical features and APOE genotype of pathologically proven early-onset Alzheimer disease","title_match":true,"year":2011},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/single-nucleus-rna-sequencing-of-autosomal-dominant-alzheimer-disease-37085492","doi":"10.1038/s41467-023-37437-5","journal":"Nature communications","n_participants":null,"pmid":"37085492","source_url":"https://pubmed.ncbi.nlm.nih.gov/37085492/","study_design":null,"title":"Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers","title_match":true,"year":2023},{"alzhub_score":51,"alzhub_url":"https://alzhub.org/study/association-of-early-onset-alzheimer-disease-with-elevated-low-31135820","doi":"10.1001/jamaneurol.2019.0648","journal":"JAMA neurology","n_participants":null,"pmid":"31135820","source_url":"https://pubmed.ncbi.nlm.nih.gov/31135820/","study_design":null,"title":"Association of Early-Onset Alzheimer Disease With Elevated Low-Density Lipoprotein Cholesterol Levels and Rare Genetic Coding Variants of APOB","title_match":true,"year":2019},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/the-genetic-landscape-of-alzheimer-disease-29478590","doi":"10.1016/b978-0-444-64076-5.00026-0","journal":"Handbook of clinical neurology","n_participants":null,"pmid":"29478590","source_url":"https://pubmed.ncbi.nlm.nih.gov/29478590/","study_design":null,"title":"The genetic landscape of Alzheimer disease","title_match":false,"year":2018},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/apoe-influences-regional-white-matter-axonal-density-loss-in-28578156","doi":"10.1016/j.neurobiolaging.2017.04.021","journal":"Neurobiology of aging","n_participants":37,"pmid":"28578156","source_url":"https://pubmed.ncbi.nlm.nih.gov/28578156/","study_design":null,"title":"ApoE influences regional white-matter axonal density loss in Alzheimer's disease","title_match":false,"year":2017},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/whole-brain-atrophy-rate-in-alzheimer-disease-identifying-fast-18458218","doi":"10.1212/01.wnl.0000311446.61861.e3","journal":"Neurology","n_participants":65,"pmid":"18458218","source_url":"https://pubmed.ncbi.nlm.nih.gov/18458218/","study_design":null,"title":"Whole-brain atrophy rate in Alzheimer disease: identifying fast progressors","title_match":false,"year":2008},{"alzhub_score":60,"alzhub_url":"https://alzhub.org/study/cognitive-decline-in-a-colombian-kindred-with-autosomal-dominant-26902171","doi":"10.1001/jamaneurol.2015.4851","journal":"JAMA neurology","n_participants":493,"pmid":"26902171","source_url":"https://pubmed.ncbi.nlm.nih.gov/26902171/","study_design":"cohort study","title":"Cognitive Decline in a Colombian Kindred With Autosomal Dominant Alzheimer Disease: A Retrospective Cohort Study","title_match":true,"year":2016},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/processing-of-the-synaptic-cell-adhesion-molecule-neurexin-3beta-by-21084300","doi":"10.1074/jbc.m110.142521","journal":"The Journal of biological chemistry","n_participants":null,"pmid":"21084300","source_url":"https://pubmed.ncbi.nlm.nih.gov/21084300/","study_design":null,"title":"Processing of the synaptic cell adhesion molecule neurexin-3beta by Alzheimer disease alpha- and gamma-secretases","title_match":false,"year":2011},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/a-phase-i-study-to-assess-the-effect-of-speed-of-injection-on-pain-31883703","doi":"10.1016/j.clinthera.2019.11.015","journal":"Clinical therapeutics","n_participants":null,"pmid":"31883703","source_url":"https://pubmed.ncbi.nlm.nih.gov/31883703/","study_design":"open-label trial","title":"A Phase I Study to Assess the Effect of Speed of Injection on Pain, Tolerability, and Pharmacokinetics After High-volume Subcutaneous Administration of Gantenerumab in Healthy Volunteers","title_match":false,"year":2020},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/effect-of-individual-virtual-reality-cognitive-training-programs-on-37878378","doi":"10.2196/48912","journal":"JMIR mental health","n_participants":30,"pmid":"37878378","source_url":"https://pubmed.ncbi.nlm.nih.gov/37878378/","study_design":null,"title":"Effect of Individual Virtual Reality Cognitive Training Programs on Cognitive Function and Depression in Middle-Aged Women: Randomized Controlled Trial","title_match":false,"year":2023},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/alzheimer-s-disease-and-vascular-dementia-in-developing-countries-18667359","doi":"10.1016/s1474-4422(08)70169-8","journal":"The Lancet. Neurology","n_participants":null,"pmid":"18667359","source_url":"https://pubmed.ncbi.nlm.nih.gov/18667359/","study_design":null,"title":"Alzheimer's disease and vascular dementia in developing countries: prevalence, management, and risk factors","title_match":false,"year":2008},{"alzhub_score":63,"alzhub_url":"https://alzhub.org/study/brain-imaging-and-fluid-biomarker-analysis-in-young-adults-at-genetic-23137948","doi":"10.1016/s1474-4422(12)70228-4","journal":"The Lancet. Neurology","n_participants":44,"pmid":"23137948","source_url":"https://pubmed.ncbi.nlm.nih.gov/23137948/","study_design":null,"title":"Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case-control study","title_match":true,"year":2012},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/update-on-alzheimer-s-disease-therapy-and-prevention-strategies-28099083","doi":"10.1146/annurev-med-042915-103753","journal":"Annual review of medicine","n_participants":null,"pmid":"28099083","source_url":"https://pubmed.ncbi.nlm.nih.gov/28099083/","study_design":null,"title":"Update on Alzheimer's Disease Therapy and Prevention Strategies","title_match":false,"year":2017},{"alzhub_score":59,"alzhub_url":"https://alzhub.org/study/alzheimer-s-disease-associated-with-down-syndrome-a-genetic-form-of-34687637","doi":"10.1016/s1474-4422(21)00245-3","journal":"The Lancet. Neurology","n_participants":null,"pmid":"34687637","source_url":"https://pubmed.ncbi.nlm.nih.gov/34687637/","study_design":null,"title":"Alzheimer's disease associated with Down syndrome: a genetic form of dementia","title_match":false,"year":2021},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/florbetapir-pet-analysis-of-amyloid-deposition-in-the-presenilin-1-23137949","doi":"10.1016/s1474-4422(12)70227-2","journal":"The Lancet. Neurology","n_participants":null,"pmid":"23137949","source_url":"https://pubmed.ncbi.nlm.nih.gov/23137949/","study_design":"cross-sectional","title":"Florbetapir PET analysis of amyloid-\u03b2 deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study","title_match":true,"year":2012},{"alzhub_score":64,"alzhub_url":"https://alzhub.org/study/associations-of-socioeconomic-status-and-healthy-lifestyle-with-38042162","doi":"10.1016/s2666-7568(23)00211-8","journal":"The lancet. Healthy longevity","n_participants":345,"pmid":"38042162","source_url":"https://pubmed.ncbi.nlm.nih.gov/38042162/","study_design":"cohort study","title":"Associations of socioeconomic status and healthy lifestyle with incident early-onset and late-onset dementia: a prospective cohort study","title_match":false,"year":2023},{"alzhub_score":60,"alzhub_url":"https://alzhub.org/study/the-prevalence-of-frontotemporal-dementia-12058088","doi":"10.1212/wnl.58.11.1615","journal":"Neurology","n_participants":108,"pmid":"12058088","source_url":"https://pubmed.ncbi.nlm.nih.gov/12058088/","study_design":null,"title":"The prevalence of frontotemporal dementia","title_match":false,"year":2002},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/the-diagnosis-of-young-onset-dementia-20650401","doi":"10.1016/s1474-4422(10)70159-9","journal":"The Lancet. Neurology","n_participants":null,"pmid":"20650401","source_url":"https://pubmed.ncbi.nlm.nih.gov/20650401/","study_design":null,"title":"The diagnosis of young-onset dementia","title_match":true,"year":2010},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/clinical-genetic-and-pathological-heterogeneity-of-frontotemporal-20971753","doi":"10.1136/jnnp.2010.212225","journal":"Journal of neurology, neurosurgery, and psychiatry","n_participants":null,"pmid":"20971753","source_url":"https://pubmed.ncbi.nlm.nih.gov/20971753/","study_design":null,"title":"Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review","title_match":false,"year":2011},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/the-prevalence-and-causes-of-dementia-in-people-under-the-age-of-65-12933919","doi":"10.1136/jnnp.74.9.1206","journal":"Journal of neurology, neurosurgery, and psychiatry","n_participants":567500,"pmid":"12933919","source_url":"https://pubmed.ncbi.nlm.nih.gov/12933919/","study_design":null,"title":"The prevalence and causes of dementia in people under the age of 65 years","title_match":true,"year":2003},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/early-versus-late-onset-alzheimer-s-disease-more-than-age-alone-20061618","doi":"10.3233/jad-2010-1337","journal":"Journal of Alzheimer's disease : JAD","n_participants":270,"pmid":"20061618","source_url":"https://pubmed.ncbi.nlm.nih.gov/20061618/","study_design":null,"title":"Early-versus late-onset Alzheimer's disease: more than age alone","title_match":false,"year":2010},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/cognitive-deficits-and-associated-neurological-complications-in-20494326","doi":"10.1016/s1474-4422(10)70112-5","journal":"The Lancet. Neurology","n_participants":null,"pmid":"20494326","source_url":"https://pubmed.ncbi.nlm.nih.gov/20494326/","study_design":null,"title":"Cognitive deficits and associated neurological complications in individuals with Down's syndrome","title_match":false,"year":2010},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/frontotemporal-lobar-degeneration-epidemiology-pathophysiology-20369906","doi":"10.2165/11533100-000000000-00000","journal":"CNS drugs","n_participants":null,"pmid":"20369906","source_url":"https://pubmed.ncbi.nlm.nih.gov/20369906/","study_design":null,"title":"Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management","title_match":false,"year":2010},{"alzhub_score":70,"alzhub_url":"https://alzhub.org/study/widespread-brain-tau-and-its-association-with-ageing-braak-stage-and-29228201","doi":"10.1093/brain/awx320","journal":"Brain : a journal of neurology","n_participants":null,"pmid":"29228201","source_url":"https://pubmed.ncbi.nlm.nih.gov/29228201/","study_design":null,"title":"Widespread brain tau and its association with ageing, Braak stage and Alzheimer's dementia","title_match":false,"year":2018},{"alzhub_score":68,"alzhub_url":"https://alzhub.org/study/contribution-of-alcohol-use-disorders-to-the-burden-of-dementia-in-29475810","doi":"10.1016/s2468-2667(18)30022-7","journal":"The Lancet. Public health","n_participants":156,"pmid":"29475810","source_url":"https://pubmed.ncbi.nlm.nih.gov/29475810/","study_design":"retrospective cohort","title":"Contribution of alcohol use disorders to the burden of dementia in France 2008-13: a nationwide retrospective cohort study","title_match":false,"year":2018},{"alzhub_score":77,"alzhub_url":"https://alzhub.org/study/spatial-patterns-of-neuroimaging-biomarker-change-in-individuals-from-29397305","doi":"10.1016/s1474-4422(18)30028-0","journal":"The Lancet. Neurology","n_participants":346,"pmid":"29397305","source_url":"https://pubmed.ncbi.nlm.nih.gov/29397305/","study_design":"longitudinal study","title":"Spatial patterns of neuroimaging biomarker change in individuals from families with autosomal dominant Alzheimer's disease: a longitudinal study","title_match":true,"year":2018},{"alzhub_score":60,"alzhub_url":"https://alzhub.org/study/longitudinal-change-in-csf-biomarkers-in-autosomal-dominant-alzheimer-24598588","doi":"10.1126/scitranslmed.3007901","journal":"Science translational medicine","n_participants":null,"pmid":"24598588","source_url":"https://pubmed.ncbi.nlm.nih.gov/24598588/","study_design":"cross-sectional","title":"Longitudinal change in CSF biomarkers in autosomal-dominant Alzheimer's disease","title_match":true,"year":2014},{"alzhub_score":59,"alzhub_url":"https://alzhub.org/study/tau-pet-in-autosomal-dominant-alzheimer-s-disease-relationship-with-30753379","doi":"10.1093/brain/awz019","journal":"Brain : a journal of neurology","n_participants":null,"pmid":"30753379","source_url":"https://pubmed.ncbi.nlm.nih.gov/30753379/","study_design":"cross-sectional","title":"Tau PET in autosomal dominant Alzheimer's disease: relationship with cognition, dementia and other biomarkers","title_match":true,"year":2019},{"alzhub_score":60,"alzhub_url":"https://alzhub.org/study/association-between-amyloid-and-tau-accumulation-in-young-adults-with-29435558","doi":"10.1001/jamaneurol.2017.4907","journal":"JAMA neurology","n_participants":24,"pmid":"29435558","source_url":"https://pubmed.ncbi.nlm.nih.gov/29435558/","study_design":"cross-sectional","title":"Association Between Amyloid and Tau Accumulation in Young Adults With Autosomal Dominant Alzheimer Disease","title_match":true,"year":2018},{"alzhub_score":71,"alzhub_url":"https://alzhub.org/study/soluble-trem2-in-csf-and-its-association-with-other-biomarkers-and-35305339","doi":"10.1016/s1474-4422(22)00027-8","journal":"The Lancet. Neurology","n_participants":155,"pmid":"35305339","source_url":"https://pubmed.ncbi.nlm.nih.gov/35305339/","study_design":"longitudinal study","title":"Soluble TREM2 in CSF and its association with other biomarkers and cognition in autosomal-dominant Alzheimer's disease: a longitudinal observational study","title_match":true,"year":2022},{"alzhub_score":58,"alzhub_url":"https://alzhub.org/study/impaired-default-network-functional-connectivity-in-autosomal-23884042","doi":"10.1212/wnl.0b013e3182a1aafe","journal":"Neurology","n_participants":null,"pmid":"23884042","source_url":"https://pubmed.ncbi.nlm.nih.gov/23884042/","study_design":"cross-sectional","title":"Impaired default network functional connectivity in autosomal dominant Alzheimer disease","title_match":true,"year":2013},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/low-pib-pet-retention-in-presence-of-pathologic-csf-biomarkers-in-22700814","doi":"10.1212/wnl.0b013e31825fdf18","journal":"Neurology","n_participants":null,"pmid":"22700814","source_url":"https://pubmed.ncbi.nlm.nih.gov/22700814/","study_design":null,"title":"Low PiB PET retention in presence of pathologic CSF biomarkers in Arctic APP mutation carriers","title_match":false,"year":2012},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/brain-network-connectivity-differs-in-early-onset-neurodegenerative-28954876","doi":"10.1212/wnl.0000000000004577","journal":"Neurology","n_participants":37,"pmid":"28954876","source_url":"https://pubmed.ncbi.nlm.nih.gov/28954876/","study_design":null,"title":"Brain network connectivity differs in early-onset neurodegenerative dementia","title_match":false,"year":2017},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/postmortem-mri-and-histology-demonstrate-differential-iron-29195086","doi":"10.1016/j.neurobiolaging.2017.10.017","journal":"Neurobiology of aging","n_participants":null,"pmid":"29195086","source_url":"https://pubmed.ncbi.nlm.nih.gov/29195086/","study_design":null,"title":"Postmortem MRI and histology demonstrate differential iron accumulation and cortical myelin organization in early- and late-onset Alzheimer's disease","title_match":false,"year":2018},{"alzhub_score":60,"alzhub_url":"https://alzhub.org/study/functional-connectivity-in-autosomal-dominant-and-late-onset-25069482","doi":"10.1001/jamaneurol.2014.1654","journal":"JAMA neurology","n_participants":79,"pmid":"25069482","source_url":"https://pubmed.ncbi.nlm.nih.gov/25069482/","study_design":"cross-sectional","title":"Functional connectivity in autosomal dominant and late-onset Alzheimer disease","title_match":false,"year":2014},{"alzhub_score":67,"alzhub_url":"https://alzhub.org/study/etiology-of-white-matter-hyperintensities-in-autosomal-dominant-and-37843849","doi":"10.1001/jamaneurol.2023.3618","journal":"JAMA neurology","n_participants":1141,"pmid":"37843849","source_url":"https://pubmed.ncbi.nlm.nih.gov/37843849/","study_design":"cohort study","title":"Etiology of White Matter Hyperintensities in Autosomal Dominant and Sporadic Alzheimer Disease","title_match":false,"year":2023},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/dementia-after-moderate-severe-traumatic-brain-injury-coexistence-of-29155947","doi":"10.1093/jnen/nlx101","journal":"Journal of neuropathology and experimental neurology","n_participants":null,"pmid":"29155947","source_url":"https://pubmed.ncbi.nlm.nih.gov/29155947/","study_design":null,"title":"Dementia After Moderate-Severe Traumatic Brain Injury: Coexistence of Multiple Proteinopathies","title_match":false,"year":2018},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/cortical-microstructural-correlates-of-astrocytosis-in-autosomal-32291295","doi":"10.1212/wnl.0000000000009405","journal":"Neurology","n_participants":31,"pmid":"32291295","source_url":"https://pubmed.ncbi.nlm.nih.gov/32291295/","study_design":null,"title":"Cortical microstructural correlates of astrocytosis in autosomal-dominant Alzheimer disease","title_match":true,"year":2020},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/visual-assessment-of-atrophy-on-magnetic-resonance-imaging-in-the-16157748","doi":"10.1001/archneur.62.9.1410","journal":"Archives of neurology","n_participants":null,"pmid":"16157748","source_url":"https://pubmed.ncbi.nlm.nih.gov/16157748/","study_design":null,"title":"Visual assessment of atrophy on magnetic resonance imaging in the diagnosis of pathologically confirmed young-onset dementias","title_match":true,"year":2005},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/association-of-parental-dementia-with-cognitive-and-brain-mri-20007524","doi":"10.1212/wnl.0b013e3181c67833","journal":"Neurology","n_participants":717,"pmid":"20007524","source_url":"https://pubmed.ncbi.nlm.nih.gov/20007524/","study_design":null,"title":"Association of parental dementia with cognitive and brain MRI measures in middle-aged adults","title_match":false,"year":2009},{"alzhub_score":51,"alzhub_url":"https://alzhub.org/study/presymptomatic-atrophy-in-autosomal-dominant-alzheimer-s-disease-a-28738187","doi":"10.1016/j.jalz.2017.06.2268","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":94,"pmid":"28738187","source_url":"https://pubmed.ncbi.nlm.nih.gov/28738187/","study_design":null,"title":"Presymptomatic atrophy in autosomal dominant Alzheimer's disease: A\u00a0serial magnetic resonance imaging study","title_match":true,"year":2018},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/clinical-imaging-and-pathological-heterogeneity-of-the-alzheimer-s-23302773","doi":"10.1186/alzrt155","journal":"Alzheimer's research & therapy","n_participants":null,"pmid":"23302773","source_url":"https://pubmed.ncbi.nlm.nih.gov/23302773/","study_design":null,"title":"Clinical, imaging, and pathological heterogeneity of the Alzheimer's disease syndrome","title_match":false,"year":2013},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/genes-associated-with-alzheimer-s-disease-an-overview-and-current-27274215","doi":"10.2147/cia.s105769","journal":"Clinical interventions in aging","n_participants":null,"pmid":"27274215","source_url":"https://pubmed.ncbi.nlm.nih.gov/27274215/","study_design":null,"title":"Genes associated with Alzheimer's disease: an overview and current status","title_match":false,"year":2016},{"alzhub_score":68,"alzhub_url":"https://alzhub.org/study/exome-sequencing-identifies-rare-damaging-variants-in-atp8b4-and-36411364","doi":"10.1038/s41588-022-01208-7","journal":"Nature genetics","n_participants":32558,"pmid":"36411364","source_url":"https://pubmed.ncbi.nlm.nih.gov/36411364/","study_design":null,"title":"Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease","title_match":false,"year":2022},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/impact-of-early-onset-dementia-on-caregivers-a-review-20957692","doi":"10.1002/gps.2439","journal":"International journal of geriatric psychiatry","n_participants":null,"pmid":"20957692","source_url":"https://pubmed.ncbi.nlm.nih.gov/20957692/","study_design":null,"title":"Impact of early onset dementia on caregivers: a review","title_match":true,"year":2010},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/time-to-diagnosis-in-young-onset-dementia-and-its-determinants-the-26807846","doi":"10.1002/gps.4430","journal":"International journal of geriatric psychiatry","n_participants":47,"pmid":"26807846","source_url":"https://pubmed.ncbi.nlm.nih.gov/26807846/","study_design":null,"title":"Time to diagnosis in young-onset dementia and its determinants: the INSPIRED study","title_match":true,"year":2016},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/the-epidemiology-of-frontotemporal-dementia-23611343","doi":"10.3109/09540261.2013.776523","journal":"International review of psychiatry (Abingdon, England)","n_participants":null,"pmid":"23611343","source_url":"https://pubmed.ncbi.nlm.nih.gov/23611343/","study_design":null,"title":"The epidemiology of frontotemporal dementia","title_match":false,"year":2013},{"alzhub_score":78,"alzhub_url":"https://alzhub.org/study/association-of-alzheimer-disease-with-life-expectancy-in-people-with-35604690","doi":"10.1001/jamanetworkopen.2022.12910","journal":"JAMA network open","n_participants":77,"pmid":"35604690","source_url":"https://pubmed.ncbi.nlm.nih.gov/35604690/","study_design":"meta-analysis","title":"Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome","title_match":false,"year":2022},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/improving-the-quality-of-care-for-mild-to-moderate-dementia-an-17243196","doi":"10.1002/gps.1741","journal":"International journal of geriatric psychiatry","n_participants":null,"pmid":"17243196","source_url":"https://pubmed.ncbi.nlm.nih.gov/17243196/","study_design":null,"title":"Improving the quality of care for mild to moderate dementia: an evaluation of the Croydon Memory Service Model","title_match":false,"year":2007},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/cathepsin-f-mutations-cause-type-b-kufs-disease-an-adult-onset-23297359","doi":"10.1093/hmg/dds558","journal":"Human molecular genetics","n_participants":null,"pmid":"23297359","source_url":"https://pubmed.ncbi.nlm.nih.gov/23297359/","study_design":null,"title":"Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis","title_match":false,"year":2013},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/epilepsy-and-cognitive-impairments-in-alzheimer-disease-19204149","doi":"10.1001/archneurol.2009.15","journal":"Archives of neurology","n_participants":null,"pmid":"19204149","source_url":"https://pubmed.ncbi.nlm.nih.gov/19204149/","study_design":null,"title":"Epilepsy and cognitive impairments in Alzheimer disease","title_match":false,"year":2009},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/2009-alzheimer-s-disease-facts-and-figures-19426951","doi":"10.1016/j.jalz.2009.03.001","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":200000,"pmid":"19426951","source_url":"https://pubmed.ncbi.nlm.nih.gov/19426951/","study_design":null,"title":"2009 Alzheimer's disease facts and figures","title_match":false,"year":2009},{"alzhub_score":67,"alzhub_url":"https://alzhub.org/study/plasma-abeta-1-40-and-abeta-1-42-and-the-risk-of-dementia-a-16857570","doi":"10.1016/s1474-4422(06)70501-4","journal":"The Lancet. Neurology","n_participants":6713,"pmid":"16857570","source_url":"https://pubmed.ncbi.nlm.nih.gov/16857570/","study_design":"cohort study","title":"Plasma Abeta(1-40) and Abeta(1-42) and the risk of dementia: a prospective case-cohort study","title_match":false,"year":2006},{"alzhub_score":77,"alzhub_url":"https://alzhub.org/study/global-prevalence-of-young-onset-dementia-a-systematic-review-and-34279544","doi":"10.1001/jamaneurol.2021.2161","journal":"JAMA neurology","n_participants":95,"pmid":"34279544","source_url":"https://pubmed.ncbi.nlm.nih.gov/34279544/","study_design":"systematic review","title":"Global Prevalence of Young-Onset Dementia: A Systematic Review and Meta-analysis","title_match":true,"year":2021},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/pick-s-disease-versus-alzheimer-s-disease-a-comparison-of-clinical-8437691","doi":"10.1212/wnl.43.2.289","journal":"Neurology","n_participants":21,"pmid":"8437691","source_url":"https://pubmed.ncbi.nlm.nih.gov/8437691/","study_design":null,"title":"Pick's disease versus Alzheimer's disease: a comparison of clinical characteristics","title_match":false,"year":1993},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/frontotemporal-lobar-degeneration-epidemiology-pathology-diagnosis-22950490","doi":"10.2165/11640070-000000000-00000","journal":"CNS drugs","n_participants":null,"pmid":"22950490","source_url":"https://pubmed.ncbi.nlm.nih.gov/22950490/","study_design":null,"title":"Frontotemporal lobar degeneration: epidemiology, pathology, diagnosis and management","title_match":false,"year":2012},{"alzhub_score":51,"alzhub_url":"https://alzhub.org/study/modifiable-risk-factors-for-dementia-and-dementia-risk-profiling-a-34635138","doi":"10.1186/s13195-021-00895-4","journal":"Alzheimer's research & therapy","n_participants":null,"pmid":"34635138","source_url":"https://pubmed.ncbi.nlm.nih.gov/34635138/","study_design":null,"title":"Modifiable risk factors for dementia and dementia risk profiling. A user manual for Brain Health Services-part 2 of 6","title_match":false,"year":2021},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/eyetracking-metrics-in-young-onset-alzheimer-s-disease-a-window-into-28824534","doi":"10.3389/fneur.2017.00377","journal":"Frontiers in neurology","n_participants":26,"pmid":"28824534","source_url":"https://pubmed.ncbi.nlm.nih.gov/28824534/","study_design":null,"title":"Eyetracking Metrics in Young Onset Alzheimer's Disease: A Window into Cognitive Visual Functions","title_match":true,"year":2017},{"alzhub_score":61,"alzhub_url":"https://alzhub.org/study/predicting-behavioral-variant-frontotemporal-dementia-with-pattern-28348957","doi":"10.1016/j.nicl.2017.02.001","journal":"NeuroImage. Clinical","n_participants":null,"pmid":"28348957","source_url":"https://pubmed.ncbi.nlm.nih.gov/28348957/","study_design":"meta-analysis","title":"Predicting behavioral variant frontotemporal dementia with pattern classification in multi-center structural MRI data","title_match":false,"year":2017},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/can-progressive-and-non-progressive-behavioural-variant-19228667","doi":"10.1136/jnnp.2008.163873","journal":"Journal of neurology, neurosurgery, and psychiatry","n_participants":71,"pmid":"19228667","source_url":"https://pubmed.ncbi.nlm.nih.gov/19228667/","study_design":null,"title":"Can progressive and non-progressive behavioural variant frontotemporal dementia be distinguished at presentation?","title_match":false,"year":2009},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/new-approaches-to-studying-early-brain-development-in-down-syndrome-31102269","doi":"10.1111/dmcn.14260","journal":"Developmental medicine and child neurology","n_participants":null,"pmid":"31102269","source_url":"https://pubmed.ncbi.nlm.nih.gov/31102269/","study_design":null,"title":"New approaches to studying early brain development in\u00a0Down\u00a0syndrome","title_match":false,"year":2019},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/gait-in-mild-alzheimer-s-disease-feasibility-of-multi-center-29614664","doi":"10.3233/jad-171116","journal":"Journal of Alzheimer's disease : JAD","n_participants":20,"pmid":"29614664","source_url":"https://pubmed.ncbi.nlm.nih.gov/29614664/","study_design":null,"title":"Gait in Mild Alzheimer's Disease: Feasibility of Multi-Center Measurement in the Clinic and Home with Body-Worn Sensors: A Pilot Study","title_match":false,"year":2018},{"alzhub_score":85,"alzhub_url":"https://alzhub.org/study/genetic-meta-analysis-of-diagnosed-alzheimer-s-disease-identifies-new-30820047","doi":"10.1038/s41588-019-0358-2","journal":"Nature genetics","n_participants":94437,"pmid":"30820047","source_url":"https://pubmed.ncbi.nlm.nih.gov/30820047/","study_design":"meta-analysis","title":"Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates A\u03b2, tau, immunity and lipid processing","title_match":false,"year":2019},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/a-genetic-cause-of-alzheimer-disease-mechanistic-insights-from-down-26243569","doi":"10.1038/nrn3983","journal":"Nature reviews. Neuroscience","n_participants":null,"pmid":"26243569","source_url":"https://pubmed.ncbi.nlm.nih.gov/26243569/","study_design":null,"title":"A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome","title_match":false,"year":2015},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/the-dementias-12480441","doi":"10.1016/s0140-6736(02)11667-9","journal":"Lancet (London, England)","n_participants":null,"pmid":"12480441","source_url":"https://pubmed.ncbi.nlm.nih.gov/12480441/","study_design":null,"title":"The dementias","title_match":false,"year":2002},{"alzhub_score":51,"alzhub_url":"https://alzhub.org/study/common-variation-in-the-mir-659-binding-site-of-grn-is-a-major-risk-18723524","doi":"10.1093/hmg/ddn257","journal":"Human molecular genetics","n_participants":null,"pmid":"18723524","source_url":"https://pubmed.ncbi.nlm.nih.gov/18723524/","study_design":null,"title":"Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia","title_match":false,"year":2008},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/a-novel-dyrk1a-dual-specificity-tyrosine-phosphorylation-regulated-25556849","doi":"10.1111/jnc.13018","journal":"Journal of neurochemistry","n_participants":null,"pmid":"25556849","source_url":"https://pubmed.ncbi.nlm.nih.gov/25556849/","study_design":null,"title":"A novel DYRK1A (dual specificity tyrosine phosphorylation-regulated kinase 1A) inhibitor for the treatment of Alzheimer's disease: effect on Tau and amyloid pathologies in vitro","title_match":false,"year":2015},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/communication-breaks-down-from-neurodevelopment-defects-to-cognitive-20097253","doi":"10.1016/j.pneurobio.2010.01.003","journal":"Progress in neurobiology","n_participants":null,"pmid":"20097253","source_url":"https://pubmed.ncbi.nlm.nih.gov/20097253/","study_design":null,"title":"Communication breaks-Down: from neurodevelopment defects to cognitive disabilities in Down syndrome","title_match":false,"year":2010},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/lysosomal-dysfunction-in-down-syndrome-and-alzheimer-mouse-models-is-37494443","doi":"10.1126/sciadv.adg1925","journal":"Science advances","n_participants":null,"pmid":"37494443","source_url":"https://pubmed.ncbi.nlm.nih.gov/37494443/","study_design":null,"title":"Lysosomal dysfunction in Down syndrome and Alzheimer mouse models is caused by v-ATPase inhibition by Tyr682-phosphorylated APP \u03b2CTF","title_match":false,"year":2023},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/early-striatal-amyloid-deposition-distinguishes-down-syndrome-and-29477284","doi":"10.1016/j.jalz.2018.01.002","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"29477284","source_url":"https://pubmed.ncbi.nlm.nih.gov/29477284/","study_design":null,"title":"Early striatal amyloid deposition distinguishes Down syndrome and autosomal dominant Alzheimer's disease from late-onset amyloid deposition","title_match":true,"year":2018},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/alzheimer-abeta-peptide-induces-chromosome-mis-segregation-and-20032300","doi":"10.1091/mbc.e09-10-0850","journal":"Molecular biology of the cell","n_participants":null,"pmid":"20032300","source_url":"https://pubmed.ncbi.nlm.nih.gov/20032300/","study_design":null,"title":"Alzheimer Abeta peptide induces chromosome mis-segregation and aneuploidy, including trisomy 21: requirement for tau and APP","title_match":false,"year":2010},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/brain-insulin-resistance-triggers-early-onset-alzheimer-disease-in-31987911","doi":"10.1016/j.nbd.2020.104772","journal":"Neurobiology of disease","n_participants":null,"pmid":"31987911","source_url":"https://pubmed.ncbi.nlm.nih.gov/31987911/","study_design":null,"title":"Brain insulin resistance triggers early onset Alzheimer disease in Down syndrome","title_match":true,"year":2020},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/the-impact-of-app-on-alzheimer-like-pathogenesis-and-gene-expression-29861166","doi":"10.1016/j.stemcr.2018.05.004","journal":"Stem cell reports","n_participants":null,"pmid":"29861166","source_url":"https://pubmed.ncbi.nlm.nih.gov/29861166/","study_design":null,"title":"The Impact of APP on Alzheimer-like Pathogenesis and Gene Expression in Down Syndrome iPSC-Derived Neurons","title_match":false,"year":2018},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/risk-factors-for-dementia-in-people-with-down-syndrome-issues-in-15000668","doi":"10.1352/0895-8017(2004)109<83:rffdip>2.0.co;2","journal":"American journal of mental retardation : AJMR","n_participants":null,"pmid":"15000668","source_url":"https://pubmed.ncbi.nlm.nih.gov/15000668/","study_design":null,"title":"Risk factors for dementia in people with down syndrome: issues in assessment and diagnosis","title_match":false,"year":2004},{"alzhub_score":42,"alzhub_url":"https://alzhub.org/study/disturbance-of-redox-homeostasis-in-down-syndrome-role-of-iron-28705658","doi":"10.1016/j.freeradbiomed.2017.07.009","journal":"Free radical biology & medicine","n_participants":null,"pmid":"28705658","source_url":"https://pubmed.ncbi.nlm.nih.gov/28705658/","study_design":null,"title":"Disturbance of redox homeostasis in Down Syndrome: Role of iron dysmetabolism","title_match":false,"year":2018},{"alzhub_score":37,"alzhub_url":"https://alzhub.org/study/cognitive-impairment-neuroimaging-and-alzheimer-neuropathology-in-26391050","doi":"10.2174/1567205012666150921095505","journal":"Current Alzheimer research","n_participants":null,"pmid":"26391050","source_url":"https://pubmed.ncbi.nlm.nih.gov/26391050/","study_design":null,"title":"Cognitive Impairment, Neuroimaging, and Alzheimer Neuropathology in Mouse Models of Down Syndrome","title_match":false,"year":2016},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/insulin-resistance-oxidative-stress-and-mitochondrial-defects-in-33516914","doi":"10.1016/j.freeradbiomed.2021.01.042","journal":"Free radical biology & medicine","n_participants":null,"pmid":"33516914","source_url":"https://pubmed.ncbi.nlm.nih.gov/33516914/","study_design":null,"title":"Insulin resistance, oxidative stress and mitochondrial defects in Ts65dn mice brain: A harmful synergistic path in down syndrome","title_match":false,"year":2021},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/the-bach1-nrf2-axis-in-brain-in-down-syndrome-and-transition-to-32839417","doi":"10.3390/antiox9090779","journal":"Antioxidants (Basel, Switzerland)","n_participants":null,"pmid":"32839417","source_url":"https://pubmed.ncbi.nlm.nih.gov/32839417/","study_design":null,"title":"The BACH1/Nrf2 Axis in Brain in Down Syndrome and Transition to Alzheimer Disease-Like Neuropathology and Dementia","title_match":false,"year":2020},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/frameshift-proteins-in-autosomal-dominant-forms-of-alzheimer-disease-16432153","doi":"10.1212/01.wnl.0000193882.46003.6d","journal":"Neurology","n_participants":null,"pmid":"16432153","source_url":"https://pubmed.ncbi.nlm.nih.gov/16432153/","study_design":null,"title":"Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies","title_match":false,"year":2006},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/aberrant-crosstalk-between-insulin-signaling-and-mtor-in-young-down-34812584","doi":"10.1002/alz.12499","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":17,"pmid":"34812584","source_url":"https://pubmed.ncbi.nlm.nih.gov/34812584/","study_design":null,"title":"Aberrant crosstalk between insulin signaling and mTOR in young Down syndrome individuals revealed by neuronal-derived extracellular vesicles","title_match":false,"year":2022},{"alzhub_score":42,"alzhub_url":"https://alzhub.org/study/mosaicism-for-trisomy-21-in-a-patient-with-young-onset-dementia-a-18332257","doi":"10.1001/archneur.65.3.412","journal":"Archives of neurology","n_participants":null,"pmid":"18332257","source_url":"https://pubmed.ncbi.nlm.nih.gov/18332257/","study_design":"case report","title":"Mosaicism for trisomy 21 in a patient with young-onset dementia: a case report and brief literature review","title_match":true,"year":2008},{"alzhub_score":37,"alzhub_url":"https://alzhub.org/study/neuropsychiatric-and-behavioral-aspects-of-trisomy-21-17389125","doi":"10.1007/s11920-007-0083-x","journal":"Current psychiatry reports","n_participants":null,"pmid":"17389125","source_url":"https://pubmed.ncbi.nlm.nih.gov/17389125/","study_design":null,"title":"Neuropsychiatric and behavioral aspects of trisomy 21","title_match":false,"year":2007},{"alzhub_score":32,"alzhub_url":"https://alzhub.org/study/synapsin-and-synaptic-vesicle-protein-expression-during-embryonic-and-15529118","doi":null,"journal":"Molecular vision","n_participants":null,"pmid":"15529118","source_url":"https://pubmed.ncbi.nlm.nih.gov/15529118/","study_design":null,"title":"Synapsin and synaptic vesicle protein expression during embryonic and post-natal lens fiber cell differentiation","title_match":false,"year":2004},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/proteomic-analysis-of-down-syndrome-cerebrospinal-fluid-compared-to-40595720","doi":"10.1038/s41467-025-61054-z","journal":"Nature communications","n_participants":229,"pmid":"40595720","source_url":"https://pubmed.ncbi.nlm.nih.gov/40595720/","study_design":null,"title":"Proteomic analysis of Down syndrome cerebrospinal fluid compared to late-onset and autosomal dominant Alzheimer\u00b4s disease","title_match":true,"year":2025},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/increased-cerebral-microbleeds-and-cortical-superficial-siderosis-in-30279085","doi":"10.1016/j.ejpn.2018.09.004","journal":"European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society","n_participants":12,"pmid":"30279085","source_url":"https://pubmed.ncbi.nlm.nih.gov/30279085/","study_design":null,"title":"Increased cerebral microbleeds and cortical superficial siderosis in pediatric patients with Down syndrome","title_match":false,"year":2019},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/mitochondrial-imbalance-in-down-syndrome-a-driver-of-accelerated-40249934","doi":"10.14336/ad.2025.0189","journal":"Aging and disease","n_participants":null,"pmid":"40249934","source_url":"https://pubmed.ncbi.nlm.nih.gov/40249934/","study_design":null,"title":"Mitochondrial Imbalance in Down Syndrome: A Driver of Accelerated Brain Aging?","title_match":false,"year":2025},{"alzhub_score":64,"alzhub_url":"https://alzhub.org/study/dementia-in-rare-genetic-neurodevelopmental-disorders-a-systematic-38759134","doi":"10.1212/wnl.0000000000209413","journal":"Neurology","n_participants":25,"pmid":"38759134","source_url":"https://pubmed.ncbi.nlm.nih.gov/38759134/","study_design":"longitudinal study","title":"Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review","title_match":false,"year":2024},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/the-effects-of-mosaicism-on-biological-and-clinical-markers-of-39500037","doi":"10.1016/j.ebiom.2024.105433","journal":"EBioMedicine","n_participants":357,"pmid":"39500037","source_url":"https://pubmed.ncbi.nlm.nih.gov/39500037/","study_design":"longitudinal study","title":"The effects of mosaicism on biological and clinical markers of Alzheimer's disease in adults with Down syndrome","title_match":false,"year":2024},{"alzhub_score":35,"alzhub_url":"https://alzhub.org/study/alzheimer-s-dementia-in-people-with-down-syndrome-results-of-39384617","doi":"10.1007/s00391-024-02371-8","journal":"Zeitschrift fur Gerontologie und Geriatrie","n_participants":null,"pmid":"39384617","source_url":"https://pubmed.ncbi.nlm.nih.gov/39384617/","study_design":null,"title":"[Alzheimer's dementia in people with Down syndrome : Results of guideline-assisted expert interviews on healthcare deficits in the diagnostics and treatment as well as solution approaches]","title_match":false,"year":2025},{"alzhub_score":35,"alzhub_url":"https://alzhub.org/study/brain-insulin-resistance-in-down-syndrome-involvement-of-pi3k-akt-39307112","doi":"10.1016/j.bbrc.2024.150713","journal":"Biochemical and biophysical research communications","n_participants":null,"pmid":"39307112","source_url":"https://pubmed.ncbi.nlm.nih.gov/39307112/","study_design":null,"title":"Brain insulin resistance in Down syndrome: Involvement of PI3K-Akt/mTOR axis in early-onset of Alzheimer's disease and its potential as a therapeutic target","title_match":false,"year":2024},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/argentina-alzheimer-s-disease-neuroimaging-initiative-pioneering-39369277","doi":"10.1002/alz.14285","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"39369277","source_url":"https://pubmed.ncbi.nlm.nih.gov/39369277/","study_design":"longitudinal study","title":"Argentina-Alzheimer's Disease Neuroimaging Initiative: pioneering Alzheimer's Research in Latin America and its Implications for Regional Advancement","title_match":false,"year":2024},{"alzhub_score":30,"alzhub_url":"https://alzhub.org/study/down-syndrome-increased-risk-of-dementia-and-lipid-disturbances-28551695","doi":null,"journal":"Developmental period medicine","n_participants":null,"pmid":"28551695","source_url":"https://pubmed.ncbi.nlm.nih.gov/28551695/","study_design":null,"title":"Down syndrome, increased risk of dementia and lipid disturbances","title_match":false,"year":2017},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/loss-of-proteostasis-and-early-onset-neurodegeneration-in-down-42072161","doi":"10.3390/antiox15040520","journal":"Antioxidants (Basel, Switzerland)","n_participants":null,"pmid":"42072161","source_url":"https://pubmed.ncbi.nlm.nih.gov/42072161/","study_design":null,"title":"Loss of Proteostasis and Early-Onset Neurodegeneration in Down Syndrome: From Mechanisms to Interventions","title_match":false,"year":2026},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/the-impact-of-congenital-heart-disease-on-the-timing-of-alzheimer-s-41561734","doi":"10.1002/dad2.70257","journal":"Alzheimer's & dementia (Amsterdam, Netherlands)","n_participants":82,"pmid":"41561734","source_url":"https://pubmed.ncbi.nlm.nih.gov/41561734/","study_design":null,"title":"The impact of congenital heart disease on the timing of Alzheimer's disease in Down syndrome","title_match":false,"year":2026},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/cross-sectional-fdg-in-down-syndrome-and-autosomal-dominant-alzheimer-40977577","doi":"10.1002/ana.78002","journal":"Annals of neurology","n_participants":76,"pmid":"40977577","source_url":"https://pubmed.ncbi.nlm.nih.gov/40977577/","study_design":"cross-sectional","title":"Cross-Sectional FDG in Down Syndrome and Autosomal Dominant Alzheimer's Disease","title_match":true,"year":2025},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/epilepsy-and-subsequent-dementia-in-adults-with-down-syndrome-a-42721539","doi":"10.1016/j.seizure.2026.08.023","journal":"Seizure","n_participants":1812,"pmid":"42721539","source_url":"https://pubmed.ncbi.nlm.nih.gov/42721539/","study_design":"cohort study","title":"Epilepsy and subsequent dementia in adults with down syndrome: a propensity score-matched cohort study using federated electronic health records","title_match":false,"year":2026},{"alzhub_score":37,"alzhub_url":"https://alzhub.org/study/frailty-in-adults-with-down-syndrome-cognitive-functional-and-42609160","doi":"10.1111/jir.70162","journal":"Journal of intellectual disability research : JIDR","n_participants":null,"pmid":"42609160","source_url":"https://pubmed.ncbi.nlm.nih.gov/42609160/","study_design":"cross-sectional","title":"Frailty in Adults With Down Syndrome: Cognitive, Functional and Biomarker Associations","title_match":false,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/multi-dimensional-attention-framework-for-personalised-alzheimer-s-c369392a","doi":"10.21203/rs.3.rs-10309496/v1","journal":"Research Square","n_participants":1669,"pmid":null,"source_url":"https://doi.org/10.21203/rs.3.rs-10309496/v1","study_design":"longitudinal study","title":"Multi-dimensional attention framework for personalised Alzheimer's disease progression prediction across sporadic and genetic risk cohorts","title_match":false,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/multi-dimensional-attention-framework-for-personalized-alzheimers-f89d89bf","doi":"10.64898/2025.12.13.25342199","journal":"medRxiv","n_participants":1669,"pmid":null,"source_url":"https://doi.org/10.64898/2025.12.13.25342199","study_design":"longitudinal study","title":"Multi-dimensional attention framework for personalized Alzheimer\u2019s disease progression prediction across sporadic and genetic risk cohorts","title_match":false,"year":2025},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/loss-of-proteostasis-and-abnormal-aging-in-down-syndrome-from-08b5b6ac","doi":"10.20944/preprints202603.1305.v1","journal":"Antioxidants (Basel, Switzerland)","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.20944/preprints202603.1305.v1","study_design":null,"title":"Loss of Proteostasis and Abnormal Aging in Down Syndrome: From Mechanisms to Interventions","title_match":false,"year":2026},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/lysosomal-dysfunction-in-down-syndrome-and-alzheimer-mouse-models-is-4ba4a0f3","doi":"10.1101/2022.06.02.494546","journal":"Science advances","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.1101/2022.06.02.494546","study_design":null,"title":"Lysosomal dysfunction in Down Syndrome and Alzheimer mouse models is caused by selective v-ATPase inhibition by Tyr 682 phosphorylated APP \u03b2CTF","title_match":false,"year":2022},{"alzhub_score":42,"alzhub_url":"https://alzhub.org/study/down-syndrome-30252272","doi":null,"journal":"StatPearls Publishing, Treasure Island (FL)","n_participants":null,"pmid":"30252272","source_url":"https://pubmed.ncbi.nlm.nih.gov/30252272/","study_design":null,"title":"Down Syndrome","title_match":false,"year":2026},{"alzhub_score":29,"alzhub_url":"https://alzhub.org/study/functional-genomics-of-the-down-syndrome-11471193","doi":null,"journal":"Croatian medical journal","n_participants":null,"pmid":"11471193","source_url":"https://pubmed.ncbi.nlm.nih.gov/11471193/","study_design":null,"title":"Functional genomics of the Down syndrome","title_match":false,"year":2001},{"alzhub_score":62,"alzhub_url":"https://alzhub.org/study/frontotemporal-lobar-degeneration-a-consensus-on-clinical-diagnostic-9855500","doi":"10.1212/wnl.51.6.1546","journal":"Neurology","n_participants":null,"pmid":"9855500","source_url":"https://pubmed.ncbi.nlm.nih.gov/9855500/","study_design":null,"title":"Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria","title_match":false,"year":1998},{"alzhub_score":61,"alzhub_url":"https://alzhub.org/study/mutations-in-progranulin-cause-tau-negative-frontotemporal-dementia-16862116","doi":"10.1038/nature05016","journal":"Nature","n_participants":null,"pmid":"16862116","source_url":"https://pubmed.ncbi.nlm.nih.gov/16862116/","study_design":null,"title":"Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17","title_match":false,"year":2006},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/strikingly-different-clinicopathological-phenotypes-determined-by-22608501","doi":"10.1016/j.ajhg.2012.04.021","journal":"American journal of human genetics","n_participants":null,"pmid":"22608501","source_url":"https://pubmed.ncbi.nlm.nih.gov/22608501/","study_design":null,"title":"Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage","title_match":false,"year":2012},{"alzhub_score":60,"alzhub_url":"https://alzhub.org/study/plasma-progranulin-levels-predict-progranulin-mutation-status-in-19158106","doi":"10.1093/brain/awn352","journal":"Brain : a journal of neurology","n_participants":219,"pmid":"19158106","source_url":"https://pubmed.ncbi.nlm.nih.gov/19158106/","study_design":null,"title":"Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members","title_match":false,"year":2009},{"alzhub_score":51,"alzhub_url":"https://alzhub.org/study/brain-glucose-hypometabolism-and-oxidative-stress-in-preclinical-19076441","doi":"10.1196/annals.1427.007","journal":"Annals of the New York Academy of Sciences","n_participants":null,"pmid":"19076441","source_url":"https://pubmed.ncbi.nlm.nih.gov/19076441/","study_design":null,"title":"Brain glucose hypometabolism and oxidative stress in preclinical Alzheimer's disease","title_match":false,"year":2008},{"alzhub_score":66,"alzhub_url":"https://alzhub.org/study/diverging-longitudinal-changes-in-astrocytosis-and-amyloid-pet-in-26813969","doi":"10.1093/brain/awv404","journal":"Brain : a journal of neurology","n_participants":null,"pmid":"26813969","source_url":"https://pubmed.ncbi.nlm.nih.gov/26813969/","study_design":"longitudinal study","title":"Diverging longitudinal changes in astrocytosis and amyloid PET in autosomal dominant Alzheimer's disease","title_match":true,"year":2016},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/pre-dementia-clinical-stages-in-presenilin-1-e280a-familial-early-21296022","doi":"10.1016/s1474-4422(10)70323-9","journal":"The Lancet. Neurology","n_participants":1784,"pmid":"21296022","source_url":"https://pubmed.ncbi.nlm.nih.gov/21296022/","study_design":null,"title":"Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retrospective cohort study","title_match":true,"year":2011},{"alzhub_score":42,"alzhub_url":"https://alzhub.org/study/multifunctional-roles-of-enolase-in-alzheimer-s-disease-brain-beyond-19780894","doi":"10.1111/j.1471-4159.2009.06397.x","journal":"Journal of neurochemistry","n_participants":null,"pmid":"19780894","source_url":"https://pubmed.ncbi.nlm.nih.gov/19780894/","study_design":null,"title":"Multifunctional roles of enolase in Alzheimer's disease brain: beyond altered glucose metabolism","title_match":false,"year":2009},{"alzhub_score":59,"alzhub_url":"https://alzhub.org/study/the-alzheimer-s-prevention-initiative-autosomal-dominant-alzheimer-s-29955659","doi":"10.1016/j.trci.2018.02.002","journal":"Alzheimer's & dementia (New York, N. Y.)","n_participants":300,"pmid":"29955659","source_url":"https://pubmed.ncbi.nlm.nih.gov/29955659/","study_design":"clinical trial","title":"The Alzheimer's Prevention Initiative Autosomal-Dominant Alzheimer's Disease Trial: A study of crenezumab versus placebo in preclinical PSEN1 E280A mutation carriers to evaluate efficacy and safety in the treatment of autosomal-dominant Alzheimer's disease, including a placebo-treated noncarrier cohort","title_match":true,"year":2018},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/two-amyloid-precursor-protein-transgenic-mouse-models-with-alzheimer-9371838","doi":"10.1073/pnas.94.24.13287","journal":"Proceedings of the National Academy of Sciences of the United States of America","n_participants":null,"pmid":"9371838","source_url":"https://pubmed.ncbi.nlm.nih.gov/9371838/","study_design":null,"title":"Two amyloid precursor protein transgenic mouse models with Alzheimer disease-like pathology","title_match":false,"year":1997},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/accelerated-amyloid-deposition-in-the-brains-of-transgenic-mice-9354339","doi":"10.1016/s0896-6273(00)80974-5","journal":"Neuron","n_participants":null,"pmid":"9354339","source_url":"https://pubmed.ncbi.nlm.nih.gov/9354339/","study_design":null,"title":"Accelerated amyloid deposition in the brains of transgenic mice coexpressing mutant presenilin 1 and amyloid precursor proteins","title_match":false,"year":1997},{"alzhub_score":60,"alzhub_url":"https://alzhub.org/study/early-onset-autosomal-dominant-alzheimer-disease-prevalence-genetic-10441572","doi":"10.1086/302553","journal":"American journal of human genetics","n_participants":100000,"pmid":"10441572","source_url":"https://pubmed.ncbi.nlm.nih.gov/10441572/","study_design":null,"title":"Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum","title_match":true,"year":1999},{"alzhub_score":64,"alzhub_url":"https://alzhub.org/study/app-psen1-and-psen2-mutations-in-early-onset-alzheimer-disease-a-28350801","doi":"10.1371/journal.pmed.1002270","journal":"PLoS medicine","n_participants":170,"pmid":"28350801","source_url":"https://pubmed.ncbi.nlm.nih.gov/28350801/","study_design":null,"title":"APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases","title_match":true,"year":2017},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/the-e280a-presenilin-1-alzheimer-mutation-produces-increased-a-beta-8837617","doi":"10.1038/nm1096-1146","journal":"Nature medicine","n_participants":null,"pmid":"8837617","source_url":"https://pubmed.ncbi.nlm.nih.gov/8837617/","study_design":null,"title":"The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology","title_match":false,"year":1996},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/new-frontiers-in-alzheimer-s-disease-genetics-11683989","doi":"10.1016/s0896-6273(01)00476-7","journal":"Neuron","n_participants":null,"pmid":"11683989","source_url":"https://pubmed.ncbi.nlm.nih.gov/11683989/","study_design":null,"title":"New frontiers in Alzheimer's disease genetics","title_match":false,"year":2001},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/the-presenilin-2-mutation-n141i-linked-to-familial-alzheimer-disease-9050898","doi":"10.1073/pnas.94.5.2025","journal":"Proceedings of the National Academy of Sciences of the United States of America","n_participants":null,"pmid":"9050898","source_url":"https://pubmed.ncbi.nlm.nih.gov/9050898/","study_design":null,"title":"The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue","title_match":false,"year":1997},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/estimation-of-the-genetic-contribution-of-presenilin-1-and-2-9384602","doi":"10.1093/hmg/7.1.43","journal":"Human molecular genetics","n_participants":null,"pmid":"9384602","source_url":"https://pubmed.ncbi.nlm.nih.gov/9384602/","study_design":null,"title":"Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease","title_match":false,"year":1998},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/mean-age-of-onset-of-familial-alzheimer-disease-caused-by-presenilin-16752394","doi":"10.1002/humu.20336","journal":"Human mutation","n_participants":null,"pmid":"16752394","source_url":"https://pubmed.ncbi.nlm.nih.gov/16752394/","study_design":null,"title":"Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40","title_match":false,"year":2006},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/high-frequency-of-potentially-pathogenic-sorl1-mutations-in-autosomal-22472873","doi":"10.1038/mp.2012.15","journal":"Molecular psychiatry","n_participants":null,"pmid":"22472873","source_url":"https://pubmed.ncbi.nlm.nih.gov/22472873/","study_design":null,"title":"High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease","title_match":true,"year":2012},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/generation-of-alzheimer-beta-amyloid-protein-in-the-trans-golgi-9108049","doi":"10.1073/pnas.94.8.3748","journal":"Proceedings of the National Academy of Sciences of the United States of America","n_participants":null,"pmid":"9108049","source_url":"https://pubmed.ncbi.nlm.nih.gov/9108049/","study_design":null,"title":"Generation of Alzheimer beta-amyloid protein in the trans-Golgi network in the apparent absence of vesicle formation","title_match":false,"year":1997},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/translation-of-the-alzheimer-amyloid-precursor-protein-mrna-is-up-10037734","doi":"10.1074/jbc.274.10.6421","journal":"The Journal of biological chemistry","n_participants":null,"pmid":"10037734","source_url":"https://pubmed.ncbi.nlm.nih.gov/10037734/","study_design":null,"title":"Translation of the alzheimer amyloid precursor protein mRNA is up-regulated by interleukin-1 through 5'-untranslated region sequences","title_match":false,"year":1999},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/familial-alzheimer-disease-linked-mutations-specifically-disrupt-ca2-17431506","doi":"10.1172/jci30447","journal":"The Journal of clinical investigation","n_participants":null,"pmid":"17431506","source_url":"https://pubmed.ncbi.nlm.nih.gov/17431506/","study_design":null,"title":"Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1","title_match":false,"year":2007},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/associations-between-biomarkers-and-age-in-the-presenilin-1-e280a-25580592","doi":"10.1001/jamaneurol.2014.3314","journal":"JAMA neurology","n_participants":null,"pmid":"25580592","source_url":"https://pubmed.ncbi.nlm.nih.gov/25580592/","study_design":"cross-sectional","title":"Associations between biomarkers and age in the presenilin 1 E280A autosomal dominant Alzheimer disease kindred: a cross-sectional study","title_match":true,"year":2015},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/high-striatal-amyloid-beta-peptide-deposition-across-different-20008660","doi":"10.1001/archneurol.2009.285","journal":"Archives of neurology","n_participants":30,"pmid":"20008660","source_url":"https://pubmed.ncbi.nlm.nih.gov/20008660/","study_design":null,"title":"High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types","title_match":false,"year":2009},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/molecular-mechanisms-of-alzheimer-disease-protection-by-the-a673t-25253696","doi":"10.1074/jbc.m114.589069","journal":"The Journal of biological chemistry","n_participants":null,"pmid":"25253696","source_url":"https://pubmed.ncbi.nlm.nih.gov/25253696/","study_design":null,"title":"Molecular mechanisms of Alzheimer disease protection by the A673T allele of amyloid precursor protein","title_match":false,"year":2014},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/intracellular-app-processing-and-a-beta-production-in-alzheimer-10446803","doi":"10.1097/00005072-199908000-00001","journal":"Journal of neuropathology and experimental neurology","n_participants":null,"pmid":"10446803","source_url":"https://pubmed.ncbi.nlm.nih.gov/10446803/","study_design":null,"title":"Intracellular APP processing and A beta production in Alzheimer disease","title_match":false,"year":1999},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/high-prevalence-of-pathogenic-mutations-in-patients-with-early-onset-10631141","doi":"10.1086/302702","journal":"American journal of human genetics","n_participants":16,"pmid":"10631141","source_url":"https://pubmed.ncbi.nlm.nih.gov/10631141/","study_design":null,"title":"High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes","title_match":true,"year":2000},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/presenilin-mutations-in-familial-alzheimer-disease-and-transgenic-15330337","doi":"10.1093/jnen/63.8.821","journal":"Journal of neuropathology and experimental neurology","n_participants":null,"pmid":"15330337","source_url":"https://pubmed.ncbi.nlm.nih.gov/15330337/","study_design":null,"title":"Presenilin mutations in familial Alzheimer disease and transgenic mouse models accelerate neuronal lysosomal pathology","title_match":false,"year":2004},{"alzhub_score":37,"alzhub_url":"https://alzhub.org/study/the-aging-brain-changes-in-the-neuronal-insulin-insulin-receptor-12111436","doi":"10.1007/s007020200082","journal":"Journal of neural transmission (Vienna, Austria : 1996)","n_participants":null,"pmid":"12111436","source_url":"https://pubmed.ncbi.nlm.nih.gov/12111436/","study_design":null,"title":"The aging brain. Changes in the neuronal insulin/insulin receptor signal transduction cascade trigger late-onset sporadic Alzheimer disease (SAD). A mini-review","title_match":false,"year":2002},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/pathological-and-physiological-functions-of-presenilins-16930451","doi":"10.1186/1750-1326-1-4","journal":"Molecular neurodegeneration","n_participants":null,"pmid":"16930451","source_url":"https://pubmed.ncbi.nlm.nih.gov/16930451/","study_design":null,"title":"Pathological and physiological functions of presenilins","title_match":false,"year":2006},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/psen2-presenilin-2-mutants-linked-to-familial-alzheimer-disease-30892128","doi":"10.1080/15548627.2019.1596489","journal":"Autophagy","n_participants":null,"pmid":"30892128","source_url":"https://pubmed.ncbi.nlm.nih.gov/30892128/","study_design":null,"title":"PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca2+ homeostasis","title_match":false,"year":2019},{"alzhub_score":42,"alzhub_url":"https://alzhub.org/study/amino-terminally-truncated-abeta-peptide-species-are-the-main-16086583","doi":"10.1021/bi0508237","journal":"Biochemistry","n_participants":null,"pmid":"16086583","source_url":"https://pubmed.ncbi.nlm.nih.gov/16086583/","study_design":null,"title":"Amino-terminally truncated Abeta peptide species are the main component of cotton wool plaques","title_match":false,"year":2005},{"alzhub_score":42,"alzhub_url":"https://alzhub.org/study/leveraging-preclinical-models-for-the-development-of-alzheimer-32612262","doi":"10.1038/s41573-020-0065-9","journal":"Nature reviews. Drug discovery","n_participants":null,"pmid":"32612262","source_url":"https://pubmed.ncbi.nlm.nih.gov/32612262/","study_design":null,"title":"Leveraging preclinical models for the development of Alzheimer disease therapeutics","title_match":false,"year":2020},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/bri2-interacts-with-amyloid-precursor-protein-app-and-regulates-16027166","doi":"10.1074/jbc.c500231200","journal":"The Journal of biological chemistry","n_participants":null,"pmid":"16027166","source_url":"https://pubmed.ncbi.nlm.nih.gov/16027166/","study_design":null,"title":"BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production","title_match":false,"year":2005},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/the-french-series-of-autosomal-dominant-early-onset-alzheimer-s-22475797","doi":"10.3233/jad-2012-120172","journal":"Journal of Alzheimer's disease : JAD","n_participants":null,"pmid":"22475797","source_url":"https://pubmed.ncbi.nlm.nih.gov/22475797/","study_design":null,"title":"The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers","title_match":true,"year":2012},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/distinct-patterns-of-app-processing-in-the-cns-in-autosomal-dominant-23224319","doi":"10.1007/s00401-012-1062-9","journal":"Acta neuropathologica","n_participants":18,"pmid":"23224319","source_url":"https://pubmed.ncbi.nlm.nih.gov/23224319/","study_design":null,"title":"Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease","title_match":false,"year":2013},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/de-novo-deleterious-genetic-variations-target-a-biological-network-26194182","doi":"10.1038/mp.2015.100","journal":"Molecular psychiatry","n_participants":null,"pmid":"26194182","source_url":"https://pubmed.ncbi.nlm.nih.gov/26194182/","study_design":null,"title":"De novo deleterious genetic variations target a biological network centered on A\u03b2 peptide in early-onset Alzheimer disease","title_match":true,"year":2015},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/novel-presenilin-1-mutation-s170f-causing-alzheimer-disease-with-lewy-16344340","doi":"10.1001/archneur.62.12.1821","journal":"Archives of neurology","n_participants":null,"pmid":"16344340","source_url":"https://pubmed.ncbi.nlm.nih.gov/16344340/","study_design":null,"title":"Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life","title_match":false,"year":2005},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/analysis-of-the-5-sequence-genomic-structure-and-alternative-splicing-9073509","doi":"10.1006/geno.1996.4523","journal":"Genomics","n_participants":null,"pmid":"9073509","source_url":"https://pubmed.ncbi.nlm.nih.gov/9073509/","study_design":null,"title":"Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease","title_match":true,"year":1997},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/neuropathology-of-autosomal-dominant-alzheimer-disease-in-the-26888304","doi":"10.1093/jnen/nlv028","journal":"Journal of neuropathology and experimental neurology","n_participants":null,"pmid":"26888304","source_url":"https://pubmed.ncbi.nlm.nih.gov/26888304/","study_design":null,"title":"Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database","title_match":true,"year":2016},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/seizures-in-dominantly-inherited-alzheimer-disease-27466472","doi":"10.1212/wnl.0000000000003048","journal":"Neurology","n_participants":132,"pmid":"27466472","source_url":"https://pubmed.ncbi.nlm.nih.gov/27466472/","study_design":null,"title":"Seizures in dominantly inherited Alzheimer disease","title_match":false,"year":2016},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/clinical-and-neuropathological-features-of-the-arctic-app-gene-18413473","doi":"10.1001/archneur.65.4.499","journal":"Archives of neurology","n_participants":null,"pmid":"18413473","source_url":"https://pubmed.ncbi.nlm.nih.gov/18413473/","study_design":null,"title":"Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease","title_match":true,"year":2008},{"alzhub_score":85,"alzhub_url":"https://alzhub.org/study/trem2-variants-in-alzheimer-s-disease-23150934","doi":"10.1056/nejmoa1211851","journal":"The New England journal of medicine","n_participants":1092,"pmid":"23150934","source_url":"https://pubmed.ncbi.nlm.nih.gov/23150934/","study_design":"meta-analysis","title":"TREM2 variants in Alzheimer's disease","title_match":false,"year":2013},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/trem2-sustains-microglial-expansion-during-aging-and-response-to-25893602","doi":"10.1172/jci77983","journal":"The Journal of clinical investigation","n_participants":null,"pmid":"25893602","source_url":"https://pubmed.ncbi.nlm.nih.gov/25893602/","study_design":null,"title":"TREM2 sustains microglial expansion during aging and response to demyelination","title_match":false,"year":2015},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/white-matter-diffusion-alterations-precede-symptom-onset-in-autosomal-30239611","doi":"10.1093/brain/awy229","journal":"Brain : a journal of neurology","n_participants":null,"pmid":"30239611","source_url":"https://pubmed.ncbi.nlm.nih.gov/30239611/","study_design":null,"title":"White matter diffusion alterations precede symptom onset in autosomal dominant Alzheimer's disease","title_match":true,"year":2018},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/human-induced-pluripotent-stem-cell-derived-microglia-like-cells-30157425","doi":"10.1016/j.celrep.2018.07.094","journal":"Cell reports","n_participants":null,"pmid":"30157425","source_url":"https://pubmed.ncbi.nlm.nih.gov/30157425/","study_design":null,"title":"Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis","title_match":false,"year":2018},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/trem2-r47h-variant-as-a-risk-factor-for-early-onset-alzheimer-s-23380991","doi":"10.3233/jad-122311","journal":"Journal of Alzheimer's disease : JAD","n_participants":726,"pmid":"23380991","source_url":"https://pubmed.ncbi.nlm.nih.gov/23380991/","study_design":null,"title":"TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease","title_match":true,"year":2013},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/the-genetics-of-alzheimer-s-disease-24729694","doi":"10.2147/cia.s51571","journal":"Clinical interventions in aging","n_participants":null,"pmid":"24729694","source_url":"https://pubmed.ncbi.nlm.nih.gov/24729694/","study_design":null,"title":"The genetics of Alzheimer's disease","title_match":false,"year":2014},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/variants-in-triggering-receptor-expressed-on-myeloid-cells-2-are-23582655","doi":"10.1016/j.neurobiolaging.2013.02.016","journal":"Neurobiology of aging","n_participants":null,"pmid":"23582655","source_url":"https://pubmed.ncbi.nlm.nih.gov/23582655/","study_design":null,"title":"Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease","title_match":false,"year":2013},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/mutations-in-trem2-lead-to-pure-early-onset-dementia-without-bone-18546367","doi":"10.1002/humu.20836","journal":"Human mutation","n_participants":null,"pmid":"18546367","source_url":"https://pubmed.ncbi.nlm.nih.gov/18546367/","study_design":null,"title":"Mutations in TREM2 lead to pure early-onset dementia without bone cysts","title_match":true,"year":2008},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/r47h-trem2-variant-increases-risk-of-typical-early-onset-alzheimer-s-25160042","doi":"10.1016/j.jalz.2014.05.1751","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":700,"pmid":"25160042","source_url":"https://pubmed.ncbi.nlm.nih.gov/25160042/","study_design":null,"title":"R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia","title_match":true,"year":2014},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/dap12-and-trem2-molecules-involved-in-innate-immunity-and-15686960","doi":"10.1016/j.nbd.2004.09.007","journal":"Neurobiology of disease","n_participants":null,"pmid":"15686960","source_url":"https://pubmed.ncbi.nlm.nih.gov/15686960/","study_design":null,"title":"Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS","title_match":false,"year":2005},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/tyrobp-genetic-variants-in-early-onset-alzheimer-s-disease-27658901","doi":"10.1016/j.neurobiolaging.2016.07.028","journal":"Neurobiology of aging","n_participants":null,"pmid":"27658901","source_url":"https://pubmed.ncbi.nlm.nih.gov/27658901/","study_design":null,"title":"TYROBP genetic variants in early-onset Alzheimer's disease","title_match":true,"year":2016},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/human-early-onset-dementia-caused-by-dap12-deficiency-reveals-a-36658241","doi":"10.1038/s41590-022-01403-y","journal":"Nature immunology","n_participants":null,"pmid":"36658241","source_url":"https://pubmed.ncbi.nlm.nih.gov/36658241/","study_design":null,"title":"Human early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated microglia","title_match":true,"year":2023},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/early-onset-alzheimer-disease-and-candidate-risk-genes-involved-in-28738127","doi":"10.1001/jamaneurol.2017.1518","journal":"JAMA neurology","n_participants":null,"pmid":"28738127","source_url":"https://pubmed.ncbi.nlm.nih.gov/28738127/","study_design":"case-control study","title":"Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport","title_match":true,"year":2017},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/trem2-y38c-mutation-and-loss-of-trem2-impairs-neuronal-synapses-in-33115519","doi":"10.1186/s13024-020-00409-0","journal":"Molecular neurodegeneration","n_participants":null,"pmid":"33115519","source_url":"https://pubmed.ncbi.nlm.nih.gov/33115519/","study_design":null,"title":"Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice","title_match":false,"year":2020},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/analysis-of-50-neurodegenerative-genes-in-clinically-diagnosed-early-30917570","doi":"10.3390/ijms20061514","journal":"International journal of molecular sciences","n_participants":null,"pmid":"30917570","source_url":"https://pubmed.ncbi.nlm.nih.gov/30917570/","study_design":null,"title":"Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease","title_match":true,"year":2019},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/amyloid-beta-1-42-and-phosphorylated-tau-in-csf-as-markers-for-early-15136685","doi":"10.1212/01.wnl.0000123249.58898.e0","journal":"Neurology","n_participants":null,"pmid":"15136685","source_url":"https://pubmed.ncbi.nlm.nih.gov/15136685/","study_design":null,"title":"Amyloid beta(1-42) and phosphorylated tau in CSF as markers for early-onset Alzheimer disease","title_match":true,"year":2004},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/emerging-cerebrospinal-fluid-biomarkers-in-autosomal-dominant-30846386","doi":"10.1016/j.jalz.2018.12.019","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":235,"pmid":"30846386","source_url":"https://pubmed.ncbi.nlm.nih.gov/30846386/","study_design":null,"title":"Emerging cerebrospinal fluid biomarkers in autosomal dominant Alzheimer's disease","title_match":true,"year":2019},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/allosteric-modulation-of-ps1-gamma-secretase-conformation-correlates-19924286","doi":"10.1371/journal.pone.0007893","journal":"PloS one","n_participants":null,"pmid":"19924286","source_url":"https://pubmed.ncbi.nlm.nih.gov/19924286/","study_design":null,"title":"Allosteric modulation of PS1/gamma-secretase conformation correlates with amyloid beta(42/40) ratio","title_match":false,"year":2009},{"alzhub_score":35,"alzhub_url":"https://alzhub.org/study/could-clinical-profile-influence-csf-biomarkers-in-early-onset-20473135","doi":"10.1097/wad.0b013e3181d712d9","journal":"Alzheimer disease and associated disorders","n_participants":null,"pmid":"20473135","source_url":"https://pubmed.ncbi.nlm.nih.gov/20473135/","study_design":null,"title":"Could clinical profile influence CSF biomarkers in early-onset Alzheimer disease?","title_match":true,"year":2010},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/csf-tau-phosphorylation-at-thr205-is-associated-with-loss-of-white-35358703","doi":"10.1016/j.nbd.2022.105714","journal":"Neurobiology of disease","n_participants":null,"pmid":"35358703","source_url":"https://pubmed.ncbi.nlm.nih.gov/35358703/","study_design":null,"title":"CSF Tau phosphorylation at Thr205 is associated with loss of white matter integrity in autosomal dominant Alzheimer disease","title_match":true,"year":2022},{"alzhub_score":42,"alzhub_url":"https://alzhub.org/study/discordance-and-concordance-between-cerebrospinal-and-sup-18-sup-f-36266044","doi":"10.1212/wnl.0000000000201198","journal":"Neurology","n_participants":null,"pmid":"36266044","source_url":"https://pubmed.ncbi.nlm.nih.gov/36266044/","study_design":null,"title":"Discordance and Concordance Between Cerebrospinal and [18F]FDG-PET Biomarkers in Assessing Atypical and Early-Onset AD Dementia Cases","title_match":true,"year":2022},{"alzhub_score":33,"alzhub_url":"https://alzhub.org/study/a-novel-presenilin-1-mutation-ala275val-as-cause-of-early-onset-24582897","doi":"10.1016/j.neulet.2014.02.034","journal":"Neuroscience letters","n_participants":null,"pmid":"24582897","source_url":"https://pubmed.ncbi.nlm.nih.gov/24582897/","study_design":null,"title":"A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease","title_match":true,"year":2014},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/sample-size-estimates-for-biomarker-based-outcome-measures-in-40118731","doi":"10.1016/j.tjpad.2025.100133","journal":"The journal of prevention of Alzheimer's disease","n_participants":200,"pmid":"40118731","source_url":"https://pubmed.ncbi.nlm.nih.gov/40118731/","study_design":null,"title":"Sample size estimates for biomarker-based outcome measures in clinical trials in autosomal dominant Alzheimer's disease","title_match":true,"year":2025},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/identification-of-genetic-modifiers-of-autosomal-dominant-alzheimer-s-42127933","doi":"10.1016/s1474-4422(26)00123-7","journal":"The Lancet. Neurology","n_participants":2338,"pmid":"42127933","source_url":"https://pubmed.ncbi.nlm.nih.gov/42127933/","study_design":null,"title":"Identification of genetic modifiers of autosomal dominant Alzheimer's disease: a genome-wide association study","title_match":true,"year":2026},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/association-of-resilience-related-life-experiences-on-variability-on-39270149","doi":"10.1212/wnl.0000000000209766","journal":"Neurology","n_participants":103,"pmid":"39270149","source_url":"https://pubmed.ncbi.nlm.nih.gov/39270149/","study_design":"longitudinal study","title":"Association of Resilience-Related Life Experiences on Variability on Age of Onset in Dominantly Inherited Alzheimer Disease","title_match":false,"year":2024},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/clinical-significance-of-the-plasma-biomarker-panels-in-amyloid-38891795","doi":"10.3390/ijms25115607","journal":"International journal of molecular sciences","n_participants":55,"pmid":"38891795","source_url":"https://pubmed.ncbi.nlm.nih.gov/38891795/","study_design":null,"title":"Clinical Significance of the Plasma Biomarker Panels in Amyloid-Negative and Tau PET-Positive Amnestic Patients: Comparisons with Alzheimer's Disease and Unimpaired Cognitive Controls","title_match":false,"year":2024},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/lecanemab-in-symptomatic-psen1-p-met233val-early-onset-alzheimer-s-42676462","doi":"10.1002/dad2.70468","journal":"Alzheimer's & dementia (Amsterdam, Netherlands)","n_participants":null,"pmid":"42676462","source_url":"https://pubmed.ncbi.nlm.nih.gov/42676462/","study_design":"longitudinal study","title":"Lecanemab in symptomatic PSEN1 p.Met233Val early-onset Alzheimer's disease: Neuroimaging safety, regional amyloid-PET dynamics, and longitudinal plasma biomarkers","title_match":true,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/abnormalities-in-core-ad-biomarkers-precede-inflammatory-and-glial-2a0fe361","doi":"10.64898/2026.03.31.26349851","journal":"medRxiv","n_participants":484,"pmid":null,"source_url":"https://doi.org/10.64898/2026.03.31.26349851","study_design":null,"title":"Abnormalities in core AD biomarkers precede inflammatory and glial markers in CSF in Autosomal Dominant Alzheimer\u2019s Disease","title_match":true,"year":2026},{"alzhub_score":30,"alzhub_url":"https://alzhub.org/study/chmp2b-p-ala30ser-variant-in-biomarker-confirmed-early-onset-42246690","doi":"10.1097/wad.0000000000000737","journal":"Alzheimer disease and associated disorders","n_participants":null,"pmid":"42246690","source_url":"https://pubmed.ncbi.nlm.nih.gov/42246690/","study_design":null,"title":"CHMP2B p.Ala30Ser Variant in Biomarker-Confirmed Early-Onset Alzheimer Disease: A Potential Endolysosomal Disease Modifier","title_match":true,"year":2026},{"alzhub_score":35,"alzhub_url":"https://alzhub.org/study/phenotypic-variability-in-early-onset-dementia-segregating-with-a-41327373","doi":"10.1186/s13195-025-01890-9","journal":"Alzheimer's research & therapy","n_participants":null,"pmid":"41327373","source_url":"https://pubmed.ncbi.nlm.nih.gov/41327373/","study_design":null,"title":"Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant","title_match":true,"year":2025},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/change-in-rates-of-cerebral-atrophy-over-time-in-early-onset-14550701","doi":"10.1016/s0140-6736(03)14469-8","journal":"Lancet (London, England)","n_participants":12,"pmid":"14550701","source_url":"https://pubmed.ncbi.nlm.nih.gov/14550701/","study_design":null,"title":"Change in rates of cerebral atrophy over time in early-onset Alzheimer's disease: longitudinal MRI study","title_match":true,"year":2003},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/early-onset-alzheimer-s-disease-is-associated-with-a-distinct-22366769","doi":"10.3233/jad-2012-111934","journal":"Journal of Alzheimer's disease : JAD","n_participants":172,"pmid":"22366769","source_url":"https://pubmed.ncbi.nlm.nih.gov/22366769/","study_design":null,"title":"Early onset Alzheimer's disease is associated with a distinct neuropsychological profile","title_match":true,"year":2012},{"alzhub_score":58,"alzhub_url":"https://alzhub.org/study/app-locus-duplication-causes-autosomal-dominant-early-onset-alzheimer-16369530","doi":"10.1038/ng1718","journal":"Nature genetics","n_participants":null,"pmid":"16369530","source_url":"https://pubmed.ncbi.nlm.nih.gov/16369530/","study_design":null,"title":"APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy","title_match":true,"year":2006},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/app-duplication-is-sufficient-to-cause-early-onset-alzheimer-s-16921174","doi":"10.1093/brain/awl203","journal":"Brain : a journal of neurology","n_participants":null,"pmid":"16921174","source_url":"https://pubmed.ncbi.nlm.nih.gov/16921174/","study_design":null,"title":"APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy","title_match":true,"year":2006},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/apolipoprotein-e4-allele-in-a-population-based-study-of-early-onset-8075646","doi":"10.1038/ng0594-74","journal":"Nature genetics","n_participants":null,"pmid":"8075646","source_url":"https://pubmed.ncbi.nlm.nih.gov/8075646/","study_design":null,"title":"Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease","title_match":true,"year":1994},{"alzhub_score":51,"alzhub_url":"https://alzhub.org/study/heritability-for-alzheimer-s-disease-the-study-of-dementia-in-swedish-9060980","doi":"10.1093/gerona/52a.2.m117","journal":"The journals of gerontology. Series A, Biological sciences and medical sciences","n_participants":null,"pmid":"9060980","source_url":"https://pubmed.ncbi.nlm.nih.gov/9060980/","study_design":null,"title":"Heritability for Alzheimer's disease: the study of dementia in Swedish twins","title_match":false,"year":1997},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/early-onset-alzheimer-disease-28410659","doi":"10.1016/j.ncl.2017.01.005","journal":"Neurologic clinics","n_participants":null,"pmid":"28410659","source_url":"https://pubmed.ncbi.nlm.nih.gov/28410659/","study_design":null,"title":"Early-Onset Alzheimer Disease","title_match":true,"year":2017},{"alzhub_score":58,"alzhub_url":"https://alzhub.org/study/comorbid-neuropathological-diagnoses-in-early-versus-late-onset-33693619","doi":"10.1093/brain/awab099","journal":"Brain : a journal of neurology","n_participants":96,"pmid":"33693619","source_url":"https://pubmed.ncbi.nlm.nih.gov/33693619/","study_design":null,"title":"Comorbid neuropathological diagnoses in early versus late-onset Alzheimer's disease","title_match":false,"year":2021},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/truncated-stathmin-2-is-a-marker-of-tdp-43-pathology-in-32790644","doi":"10.1172/jci139741","journal":"The Journal of clinical investigation","n_participants":null,"pmid":"32790644","source_url":"https://pubmed.ncbi.nlm.nih.gov/32790644/","study_design":null,"title":"Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia","title_match":false,"year":2020},{"alzhub_score":59,"alzhub_url":"https://alzhub.org/study/time-to-diagnosis-in-young-onset-dementia-as-compared-with-late-onset-22640548","doi":"10.1017/s0033291712001122","journal":"Psychological medicine","n_participants":null,"pmid":"22640548","source_url":"https://pubmed.ncbi.nlm.nih.gov/22640548/","study_design":"cohort study","title":"Time to diagnosis in young-onset dementia as compared with late-onset dementia","title_match":true,"year":2013},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/atrophy-patterns-in-early-clinical-stages-across-distinct-phenotypes-26260856","doi":"10.1002/hbm.22927","journal":"Human brain mapping","n_participants":93,"pmid":"26260856","source_url":"https://pubmed.ncbi.nlm.nih.gov/26260856/","study_design":null,"title":"Atrophy patterns in early clinical stages across distinct phenotypes of Alzheimer's disease","title_match":false,"year":2015},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/autosomal-recessive-causes-likely-in-early-onset-alzheimer-disease-21911656","doi":"10.1001/archneurol.2011.221","journal":"Archives of neurology","n_participants":5370,"pmid":"21911656","source_url":"https://pubmed.ncbi.nlm.nih.gov/21911656/","study_design":null,"title":"Autosomal recessive causes likely in early-onset Alzheimer disease","title_match":true,"year":2012},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/phenotype-associated-with-app-duplication-in-five-families-16959815","doi":"10.1093/brain/awl237","journal":"Brain : a journal of neurology","n_participants":21,"pmid":"16959815","source_url":"https://pubmed.ncbi.nlm.nih.gov/16959815/","study_design":null,"title":"Phenotype associated with APP duplication in five families","title_match":false,"year":2006},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/a-comparison-of-clinical-features-in-early-and-late-onset-primary-6830452","doi":"10.1001/archneur.1983.04050030037006","journal":"Archives of neurology","n_participants":65,"pmid":"6830452","source_url":"https://pubmed.ncbi.nlm.nih.gov/6830452/","study_design":null,"title":"A comparison of clinical features in early- and late-onset primary degenerative dementia. One entity or two?","title_match":false,"year":1983},{"alzhub_score":63,"alzhub_url":"https://alzhub.org/study/age-at-onset-of-alzheimer-s-disease-relation-to-pattern-of-cognitive-8035918","doi":"10.1212/wnl.44.7.1215","journal":"Neurology","n_participants":127,"pmid":"8035918","source_url":"https://pubmed.ncbi.nlm.nih.gov/8035918/","study_design":"longitudinal study","title":"Age at onset of Alzheimer's disease: relation to pattern of cognitive dysfunction and rate of decline","title_match":false,"year":1994},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/alzheimer-s-disease-phenotypes-and-genotypes-associated-with-20375137","doi":"10.1093/brain/awq033","journal":"Brain : a journal of neurology","n_participants":64,"pmid":"20375137","source_url":"https://pubmed.ncbi.nlm.nih.gov/20375137/","study_design":null,"title":"Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2","title_match":false,"year":2010},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/causative-and-susceptibility-genes-for-alzheimer-s-disease-a-review-12788204","doi":"10.1016/s0361-9230(03)00067-4","journal":"Brain research bulletin","n_participants":null,"pmid":"12788204","source_url":"https://pubmed.ncbi.nlm.nih.gov/12788204/","study_design":null,"title":"Causative and susceptibility genes for Alzheimer's disease: a review","title_match":false,"year":2003},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/advance-care-planning-and-quality-of-life-a-qualitative-interview-40088124","doi":"10.1177/02692163251324796","journal":"Palliative Medicine","n_participants":null,"pmid":"40088124","source_url":"https://pubmed.ncbi.nlm.nih.gov/40088124/","study_design":null,"title":"Advance care planning and quality of life: A qualitative interview study in people with young-onset dementia and their family caregivers","title_match":true,"year":2025},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/balancing-burdens-and-benefits-ethical-issues-of-offlabel-24160301","doi":"10.1016/j.pmrj.2013.08.601","journal":"PM&R","n_participants":null,"pmid":"24160301","source_url":"https://pubmed.ncbi.nlm.nih.gov/24160301/","study_design":"randomized controlled trial","title":"Balancing Burdens and Benefits: Ethical Issues of Off\u2010Label Prescription Pharmaceutical Use","title_match":false,"year":2013},{"alzhub_score":51,"alzhub_url":"https://alzhub.org/study/effects-of-socioeconomic-status-and-residence-areas-on-long-term-36536548","doi":"10.3346/jkms.2022.37.e354","journal":"Journal of Korean Medical Science","n_participants":3825,"pmid":"36536548","source_url":"https://pubmed.ncbi.nlm.nih.gov/36536548/","study_design":"cohort study","title":"Effects of Socioeconomic Status and Residence Areas on Long-Term Survival in Patients With Early-Onset Dementia: The Korean National Health Insurance Service Database Study","title_match":true,"year":2022},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/disparities-in-research-participation-within-a-multiracial-sarscov2-8cbc6a22","doi":"10.1002/alz.077318","journal":"Alzheimer s & Dementia","n_participants":1046,"pmid":null,"source_url":"https://doi.org/10.1002/alz.077318","study_design":null,"title":"Disparities in Research Participation within a Multi\u2010Racial SARS\u2010CoV\u20102 Cohort for Evaluation of Ultrahigh Field (7T) MRI and Clinical Precursors of Alzheimer\u2019s Disease and Related Dementias","title_match":false,"year":2023},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/socioeconomic-deprivation-and-medical-comorbidity-burden-associations-41444806","doi":"10.1002/alz70855_107360","journal":"Alzheimer s & Dementia","n_participants":75,"pmid":"41444806","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12738506/","study_design":null,"title":"Socioeconomic deprivation and medical comorbidity burden associations with clinicopathologic characteristics in an ethnoracially diverse Alzheimer's disease autopsy series","title_match":false,"year":2025},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/plasma-biomarkers-and-clinical-outcomes-in-early-onset-dementia-42054026","doi":"10.1001/jamanetworkopen.2026.9687","journal":"JAMA Network Open","n_participants":245,"pmid":"42054026","source_url":"https://pubmed.ncbi.nlm.nih.gov/42054026/","study_design":"cohort study","title":"Plasma Biomarkers and Clinical Outcomes in Early-Onset Dementia","title_match":true,"year":2026},{"alzhub_score":65,"alzhub_url":"https://alzhub.org/study/local-genetic-covariance-analysis-with-lipid-traits-identifies-novel-40096060","doi":"10.1371/journal.pgen.1011631","journal":"PLoS Genetics","n_participants":19668,"pmid":"40096060","source_url":"https://pubmed.ncbi.nlm.nih.gov/40096060/","study_design":"meta-analysis","title":"Local genetic covariance analysis with lipid traits identifies novel loci for early-onset Alzheimer\u2019s Disease","title_match":true,"year":2025},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/novel-earlyonset-alzheimerassociated-genes-influence-risk-through-41444475","doi":"10.1002/alz70855_107379","journal":"Alzheimer s & Dementia","n_participants":15,"pmid":"41444475","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12738202/","study_design":null,"title":"Novel early\u2010onset Alzheimer\u2010associated genes influence risk through dysregulation of glutamate, immune activation, and intracell signaling pathways","title_match":false,"year":2025},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/assessing-the-de-novo-paradigm-in-sporadic-early-onset-alzheimer-42215639","doi":"10.1038/s41380-026-03665-6","journal":"Molecular Psychiatry","n_participants":null,"pmid":"42215639","source_url":"https://pubmed.ncbi.nlm.nih.gov/42215639/","study_design":null,"title":"Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios","title_match":true,"year":2026},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/identification-of-genetic-modifiers-influencing-disease-risk-in-41442552","doi":"10.1002/alz70855_105550","journal":"Alzheimer s & Dementia","n_participants":91,"pmid":"41442552","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12735601/","study_design":null,"title":"Identification of genetic modifiers influencing disease risk in autosomal dominant Alzheimer disease mutation carriers","title_match":true,"year":2025},{"alzhub_score":31,"alzhub_url":"https://alzhub.org/study/elevated-csf-levels-of-matrix-metalloproteinase12-as-a-potential-41518635","doi":"10.1002/alz70856_107566","journal":"Alzheimer s & Dementia","n_participants":null,"pmid":"41518635","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12790406/","study_design":null,"title":"Elevated CSF levels of matrix metalloproteinase\u201012 as a potential marker for microhemorrhage risk in autosomal dominant Alzheimer disease","title_match":true,"year":2025},{"alzhub_score":34,"alzhub_url":"https://alzhub.org/study/elevated-csf-levels-of-matrix-metalloproteinase12-as-a-potential-41433535","doi":"10.1002/alz70862_109993","journal":"Alzheimer s & Dementia","n_participants":null,"pmid":"41433535","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12725258/","study_design":null,"title":"Elevated CSF levels of matrix metalloproteinase\u201012 as a potential marker for microhemorrhage risk in autosomal dominant Alzheimer disease","title_match":true,"year":2025},{"alzhub_score":25,"alzhub_url":"https://alzhub.org/study/unraveling-the-genetic-and-phenotypic-complexity-of-down-syndrome-a67d150e","doi":"10.11648/j.ijgg.20251302.14","journal":"International Journal of Genetics and Genomics","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.11648/j.ijgg.20251302.14","study_design":null,"title":"Unraveling the Genetic and Phenotypic Complexity of Down Syndrome from Trisomy 21 to Comorbid Conditions","title_match":false,"year":2025},{"alzhub_score":51,"alzhub_url":"https://alzhub.org/study/alzheimer-s-disease-neuroimaging-initiative-two-decades-of-pioneering-39760440","doi":"10.1002/alz.14186","journal":"Alzheimer s & Dementia","n_participants":null,"pmid":"39760440","source_url":"https://pubmed.ncbi.nlm.nih.gov/39760440/","study_design":"longitudinal study","title":"Alzheimer's Disease Neuroimaging Initiative: Two decades of pioneering Alzheimer's disease research and future directions","title_match":false,"year":2025},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/diagnostic-accuracy-of-fdgpetct-in-dementia-assessing-false-negatives-41511465","doi":"10.1002/alz70856_107434","journal":"Alzheimer s & Dementia","n_participants":112,"pmid":"41511465","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12786141/","study_design":"longitudinal study","title":"Diagnostic Accuracy of FDG\u2010PET\u2010CT in Dementia: Assessing False Negatives in Clinical Practice","title_match":false,"year":2025},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/clinical-practice-guidelines-on-addressing-cognitive-impairment-in-40046486","doi":"10.4103/indianjpsychiatry.indianjpsychiatry_684_24","journal":"Indian Journal of Psychiatry","n_participants":null,"pmid":"40046486","source_url":"https://pubmed.ncbi.nlm.nih.gov/40046486/","study_design":"meta-analysis","title":"Clinical practice guidelines on addressing cognitive impairment in treatable dementias","title_match":false,"year":2025},{"alzhub_score":42,"alzhub_url":"https://alzhub.org/study/biofluid-biomarkers-in-distinguishing-young-onset-dementia-from-39887317","doi":"10.1097/yco.0000000000000979","journal":"Current Opinion in Psychiatry","n_participants":46,"pmid":"39887317","source_url":"https://pubmed.ncbi.nlm.nih.gov/39887317/","study_design":null,"title":"Biofluid biomarkers in distinguishing young-onset dementia from primary psychiatric disorders","title_match":true,"year":2025},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/sex-differences-in-clinical-risk-factors-for-alzheimer-s-dementia-40832438","doi":"10.3389/fgwh.2025.1601375","journal":"Frontiers in Global Women s Health","n_participants":6212,"pmid":"40832438","source_url":"https://pubmed.ncbi.nlm.nih.gov/40832438/","study_design":"cohort study","title":"Sex differences in clinical risk factors for Alzheimer's dementia patients with early-onset and late-onset","title_match":false,"year":2025},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/tabletbased-cognitive-assessment-tool-tabcat-in-a-multisite-study-of-41395729","doi":"10.1002/alz.71012","journal":"Alzheimer s & Dementia","n_participants":146,"pmid":"41395729","source_url":"https://pubmed.ncbi.nlm.nih.gov/41395729/","study_design":"longitudinal study","title":"Tablet\u2010based Cognitive Assessment Tool (TabCAT) in a multisite study of early\u2010onset Alzheimer's disease","title_match":false,"year":2025},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/accuracy-of-blood-based-neurofilament-light-to-different-genetic-40605462","doi":"10.1177/13872877251352103","journal":"Journal of Alzheimer s Disease","n_participants":474,"pmid":"40605462","source_url":"https://pubmed.ncbi.nlm.nih.gov/40605462/","study_design":null,"title":"Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders","title_match":false,"year":2025},{"alzhub_score":42,"alzhub_url":"https://alzhub.org/study/genetic-correlates-of-presenile-dementia-and-cognitive-decline-in-the-40725212","doi":"10.3390/ijms26146965","journal":"International Journal of Molecular Sciences","n_participants":162,"pmid":"40725212","source_url":"https://pubmed.ncbi.nlm.nih.gov/40725212/","study_design":null,"title":"Genetic Correlates of Presenile Dementia and Cognitive Decline in the Armenian Population Following COVID-19: A Case-Control Study","title_match":false,"year":2025},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/state-of-the-art-hci-for-dementia-care-a-scoping-review-of-recent-098b76e6","doi":"10.3390/jdad2040041","journal":"Journal of dementia and Alzheimer's disease","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.3390/jdad2040041","study_design":null,"title":"State-of-the-Art HCI for Dementia Care: A Scoping Review of Recent Technological Advances","title_match":false,"year":2025},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/health-inequalities-in-disease-burden-of-dementia-and-early-onset-40390116","doi":"10.1186/s41256-025-00417-x","journal":"Global Health Research and Policy","n_participants":null,"pmid":"40390116","source_url":"https://pubmed.ncbi.nlm.nih.gov/40390116/","study_design":null,"title":"Health inequalities in disease burden of dementia and early-onset dementia: findings from the Global Burden of Disease 2021 study","title_match":true,"year":2025},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/race-and-ethnicity-and-comorbidities-among-medicare-beneficiaries-40833693","doi":"10.1001/jamanetworkopen.2025.28001","journal":"JAMA Network Open","n_participants":null,"pmid":"40833693","source_url":"https://pubmed.ncbi.nlm.nih.gov/40833693/","study_design":"cross-sectional","title":"Race and Ethnicity and Comorbidities Among Medicare Beneficiaries With Young-Onset Dementia","title_match":true,"year":2025},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/global-burden-spatiotemporal-disparities-and-sex-specific-trends-of-41286735","doi":"10.1186/s12883-025-04530-9","journal":"BMC Neurology","n_participants":null,"pmid":"41286735","source_url":"https://pubmed.ncbi.nlm.nih.gov/41286735/","study_design":null,"title":"Global burden, spatiotemporal disparities, and sex-specific trends of early- and late-onset Alzheimer\u2019s disease and other dementias: a comparative analysis and projections to 2035","title_match":false,"year":2025},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/global-burden-of-young-onset-dementia-from-1990-to-2021-an-age-period-39966345","doi":"10.1038/s41398-025-03275-w","journal":"Translational Psychiatry","n_participants":100000,"pmid":"39966345","source_url":"https://pubmed.ncbi.nlm.nih.gov/39966345/","study_design":null,"title":"Global burden of young-onset dementia, from 1990 to 2021: an age-period-cohort analysis from the global burden of disease study 2021","title_match":true,"year":2025},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/global-trends-in-prevalence-disability-adjusted-life-years-and-risk-40251196","doi":"10.1038/s41598-025-97404-6","journal":"Scientific Reports","n_participants":null,"pmid":"40251196","source_url":"https://pubmed.ncbi.nlm.nih.gov/40251196/","study_design":null,"title":"Global trends in prevalence, disability adjusted life years, and risk factors for early onset dementia from 1990 to 2021","title_match":true,"year":2025},{"alzhub_score":51,"alzhub_url":"https://alzhub.org/study/abdominal-obesity-and-the-risk-of-young-onset-dementia-in-women-a-40259430","doi":"10.1186/s13195-025-01738-2","journal":"Alzheimer s Research & Therapy","n_participants":964536,"pmid":"40259430","source_url":"https://pubmed.ncbi.nlm.nih.gov/40259430/","study_design":null,"title":"Abdominal obesity and the risk of young-onset dementia in women: a nationwide cohort study","title_match":true,"year":2025},{"alzhub_score":62,"alzhub_url":"https://alzhub.org/study/association-between-metabolic-syndrome-and-young-onset-dementia-40267374","doi":"10.1212/wnl.0000000000213599","journal":"Neurology","n_participants":1979509,"pmid":"40267374","source_url":"https://pubmed.ncbi.nlm.nih.gov/40267374/","study_design":"cohort study","title":"Association Between Metabolic Syndrome and Young-Onset Dementia","title_match":true,"year":2025},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/association-of-dietary-diversity-genetic-susceptibility-and-the-risk-39952880","doi":"10.1016/j.tjpad.2025.100078","journal":"The Journal of Prevention of Alzheimer s Disease","n_participants":104572,"pmid":"39952880","source_url":"https://pubmed.ncbi.nlm.nih.gov/39952880/","study_design":null,"title":"Association of dietary diversity, genetic susceptibility, and the risk of incident dementia: A prospective cohort study","title_match":false,"year":2025},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/application-of-machine-learning-in-eeg-based-dementia-diagnosis-40719017","doi":"10.1177/13872877251360331","journal":"Journal of Alzheimer s Disease","n_participants":431,"pmid":"40719017","source_url":"https://pubmed.ncbi.nlm.nih.gov/40719017/","study_design":null,"title":"Application of machine learning in EEG-based dementia diagnosis: Classification and differential diagnosis","title_match":false,"year":2025},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/realworld-prediction-of-earlyonset-dementia-by-health-record-data-a-41292296","doi":"10.1002/alz.70921","journal":"Alzheimer s & Dementia","n_participants":null,"pmid":"41292296","source_url":"https://pubmed.ncbi.nlm.nih.gov/41292296/","study_design":null,"title":"Real\u2010world prediction of early\u2010onset dementia by health record data: A multi\u2010center machine learning study","title_match":false,"year":2025},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/voiceprints-of-cognitive-impairment-analyzing-digital-voice-for-early-41195302","doi":"10.1038/s44400-025-00040-0","journal":"npj Dementia","n_participants":120,"pmid":"41195302","source_url":"https://pubmed.ncbi.nlm.nih.gov/41195302/","study_design":"longitudinal study","title":"Voiceprints of cognitive impairment: analyzing digital voice for early detection of Alzheimer\u2019s and related dementias","title_match":false,"year":2025},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/neurodevelopmental-vulnerability-in-alzheimer-s-disease-and-40757649","doi":"10.1111/ene.70322","journal":"European Journal of Neurology","n_participants":84,"pmid":"40757649","source_url":"https://pubmed.ncbi.nlm.nih.gov/40757649/","study_design":null,"title":"Neurodevelopmental Vulnerability in Alzheimer's Disease and Frontotemporal Dementia","title_match":false,"year":2025},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/alzheimer-mutant-secretase-complexes-stall-amyloid-peptide-production-99d20e91","doi":"10.7554/elife.102274.3","journal":"eLife","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.7554/elife.102274.3","study_design":null,"title":"Alzheimer-mutant \u03b3-secretase complexes stall amyloid \u03b2-peptide production","title_match":false,"year":2025},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/the-landscape-of-autosomal-dominant-alzheimers-disease-global-39903689","doi":"10.1093/brain/awaf038","journal":"Brain","n_participants":550,"pmid":"39903689","source_url":"https://pubmed.ncbi.nlm.nih.gov/39903689/","study_design":null,"title":"The landscape of autosomal-dominant Alzheimer\u2019s disease: global distribution and age of onset","title_match":true,"year":2025},{"alzhub_score":26,"alzhub_url":"https://alzhub.org/study/cuando-el-alzheimer-llega-antes-de-lo-esperado-la-mutacion-del-gen-752aedc0","doi":"10.32870/ce.vi5.138","journal":"Con Evidencia","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.32870/ce.vi5.138","study_design":null,"title":"Cuando el Alzheimer llega antes de lo esperado: la mutaci\u00f3n del gen PSEN1","title_match":false,"year":2025},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/15-years-of-longitudinal-genetic-clinical-cognitive-imaging-and-41709913","doi":"10.1038/s44400-025-00047-7","journal":"npj Dementia","n_participants":null,"pmid":"41709913","source_url":"https://pubmed.ncbi.nlm.nih.gov/41709913/","study_design":"cohort study","title":"15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN","title_match":false,"year":2026},{"alzhub_score":30,"alzhub_url":"https://alzhub.org/study/presenilin-1-m139i-mutation-regulates-the-microrna-34a-mediated-40286338","doi":"10.1093/jnen/nlaf044","journal":"Journal of Neuropathology & Experimental Neurology","n_participants":null,"pmid":"40286338","source_url":"https://pubmed.ncbi.nlm.nih.gov/40286338/","study_design":null,"title":"Presenilin 1 M139I mutation regulates the microRNA-34a-mediated neurogenic locus notch homolog protein 1 signaling pathway in an early-onset Alzheimer disease cell model","title_match":true,"year":2025},{"alzhub_score":31,"alzhub_url":"https://alzhub.org/study/neurophysiological-markers-of-cholinergic-dysfunction-in-41434363","doi":"10.1002/alz70861_108702","journal":"Alzheimer s & Dementia","n_participants":null,"pmid":"41434363","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12725564/","study_design":null,"title":"Neurophysiological markers of cholinergic dysfunction in pre\u2010symptomatic autosomal dominant Alzheimer\u00b4s disease using Transcranial Magnetic Stimulation (TMS): research design and preliminary results","title_match":true,"year":2025},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/gamma-sensory-stimulation-in-mild-alzheimer-s-dementia-an-openlabel-41137616","doi":"10.1002/alz.70792","journal":"Alzheimer s & Dementia","n_participants":null,"pmid":"41137616","source_url":"https://pubmed.ncbi.nlm.nih.gov/41137616/","study_design":"longitudinal study","title":"Gamma sensory stimulation in mild Alzheimer's dementia: An open\u2010label extension study","title_match":false,"year":2025},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/factors-influencing-time-to-support-in-young-onset-dementia-survival-39960077","doi":"10.1080/13607863.2025.2464710","journal":"Aging & Mental Health","n_participants":2592,"pmid":"39960077","source_url":"https://pubmed.ncbi.nlm.nih.gov/39960077/","study_design":"cohort study","title":"Factors influencing time to support in young-onset dementia: survival analysis of data from the Swedish Dementia Registry (SveDem)","title_match":true,"year":2025},{"alzhub_score":58,"alzhub_url":"https://alzhub.org/study/limited-diagnostic-performance-of-cerebrospinal-fluid-glial-41557565","doi":"10.1159/000550601","journal":"Dementia and Geriatric Cognitive Disorders","n_participants":1345,"pmid":"41557565","source_url":"https://pubmed.ncbi.nlm.nih.gov/41557565/","study_design":"cohort study","title":"Limited Diagnostic Performance of Cerebrospinal Fluid Glial Fibrillary Acidic Protein in Dementia","title_match":false,"year":2026},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/objective-physical-activity-in-people-with-young-onset-dementia-late-40888513","doi":"10.1177/13872877251374261","journal":"Journal of Alzheimer s Disease","n_participants":23,"pmid":"40888513","source_url":"https://pubmed.ncbi.nlm.nih.gov/40888513/","study_design":"cross-sectional","title":"Objective physical activity in people with young onset dementia, late onset dementia, and without dementia: A UK Biobank study","title_match":true,"year":2025},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/uk-biobank-data-demonstrate-long-term-exposure-to-floods-is-a-risk-40065151","doi":"10.1038/s43856-025-00771-4","journal":"Communications Medicine","n_participants":null,"pmid":"40065151","source_url":"https://pubmed.ncbi.nlm.nih.gov/40065151/","study_design":"case-control study","title":"UK Biobank data demonstrate long-term exposure to floods is a risk factor for incident dementia","title_match":false,"year":2025},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/dissociable-spatial-topography-of-cortical-atrophy-in-earlyonset-and-39968692","doi":"10.1002/alz.14489","journal":"Alzheimer s & Dementia","n_participants":null,"pmid":"39968692","source_url":"https://pubmed.ncbi.nlm.nih.gov/39968692/","study_design":null,"title":"Dissociable spatial topography of cortical atrophy in early\u2010onset and late\u2010onset Alzheimer's disease: A head\u2010to\u2010head comparison of the LEADS and ADNI cohorts","title_match":false,"year":2025},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/facets-of-language-performance-in-earlyonset-and-lateonset-alzheimer-40990522","doi":"10.1002/alz.70705","journal":"Alzheimer s & Dementia","n_participants":1189,"pmid":"40990522","source_url":"https://pubmed.ncbi.nlm.nih.gov/40990522/","study_design":"cross-sectional","title":"Facets of language performance in early\u2010onset and late\u2010onset Alzheimer's disease dementia","title_match":false,"year":2025},{"alzhub_score":35,"alzhub_url":"https://alzhub.org/study/assessing-colocalization-of-itm2b-with-alzheimer-s-disease-and-40042444","doi":"10.1111/neup.70003","journal":"Neuropathology","n_participants":null,"pmid":"40042444","source_url":"https://pubmed.ncbi.nlm.nih.gov/40042444/","study_design":null,"title":"Assessing Co\u2010Localization of ITM2B With Alzheimer's Disease and Limbic\u2010Predominant Age\u2010Related TDP \u201043 Encephalopathy Neuropathologic Changes","title_match":false,"year":2025},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/diagnosis-of-anosmia-in-middle-age-but-not-in-older-adulthood-40091590","doi":"10.21053/ceo.2024.00345","journal":"Clinical and Experimental Otorhinolaryngology","n_participants":8023,"pmid":"40091590","source_url":"https://pubmed.ncbi.nlm.nih.gov/40091590/","study_design":"cohort study","title":"Diagnosis of Anosmia in Middle Age, But Not in Older Adulthood, Increases Alzheimer Dementia Risk","title_match":false,"year":2025},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/a-de-novo-mosaic-and-complex-chromosome-21-rearrangement-causes-app-39849058","doi":"10.1038/s41598-025-86645-0","journal":"Scientific Reports","n_participants":null,"pmid":"39849058","source_url":"https://pubmed.ncbi.nlm.nih.gov/39849058/","study_design":null,"title":"A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease","title_match":true,"year":2025},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/datadriven-discovery-of-midlife-cardiometabolic-profile-associated-40045775","doi":"10.1111/dom.16292","journal":"Diabetes Obesity and Metabolism","n_participants":249,"pmid":"40045775","source_url":"https://pubmed.ncbi.nlm.nih.gov/40045775/","study_design":null,"title":"Data\u2010driven discovery of midlife cardiometabolic profile associated with incident early\u2010onset and late\u2010onset dementia","title_match":false,"year":2025},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/frontotemporal-dementia-patient-derived-ipsc-neurons-show-cell-41006764","doi":"10.1038/s41380-025-03272-x","journal":"Molecular Psychiatry","n_participants":null,"pmid":"41006764","source_url":"https://pubmed.ncbi.nlm.nih.gov/41006764/","study_design":null,"title":"Frontotemporal dementia patient-derived iPSC neurons show cell pathological hallmarks and evidence for synaptic dysfunction and DNA damage","title_match":false,"year":2025},{"alzhub_score":35,"alzhub_url":"https://alzhub.org/study/nature-and-management-of-delirium-in-the-intensive-care-unit-04f2084b","doi":"10.3928/00485713-20250528-01","journal":"Psychiatric Annals","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.3928/00485713-20250528-01","study_design":null,"title":"Nature and Management of Delirium in the Intensive Care Unit","title_match":false,"year":2025},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/secondary-causes-among-adult-patients-presenting-with-first-episode-852f95a0","doi":"10.64898/2026.09.02.26362044","journal":"medRxiv (preprint)","n_participants":37,"pmid":null,"source_url":"https://doi.org/10.64898/2026.09.02.26362044","study_design":null,"title":"Secondary causes among adult patients presenting with first-episode psychosis to acute medical settings in Hong Kong: A 10-Year retrospective study","title_match":false,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/smartphone-passive-digital-phenotyping-in-frontotemporal-lobar-7ef6cdb9","doi":"10.64898/2026.09.18.26363439","journal":"medRxiv (preprint)","n_participants":567,"pmid":null,"source_url":"https://doi.org/10.64898/2026.09.18.26363439","study_design":"longitudinal study","title":"Smartphone Passive Digital Phenotyping in Frontotemporal Lobar Degeneration","title_match":false,"year":2026},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/association-between-alcohol-use-disorders-and-dementia-in-262-703-36525370","doi":"10.1093/gerona/glac252","journal":"The journals of gerontology. Series A, Biological sciences and medical sciences","n_participants":null,"pmid":"36525370","source_url":"https://pubmed.ncbi.nlm.nih.gov/36525370/","study_design":"cohort study","title":"Association Between Alcohol Use Disorders and Dementia in 262,703 Dementia-free Finnish Adults: Is Cardiovascular Disease a Mediator?","title_match":false,"year":2023},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/rural-urban-differences-in-alzheimer-s-disease-and-related-disorders-26515331","doi":"10.1111/jrh.12155","journal":"The Journal of rural health : official journal of the American Rural Health Association and the National Rural Health Care Association","n_participants":null,"pmid":"26515331","source_url":"https://pubmed.ncbi.nlm.nih.gov/26515331/","study_design":null,"title":"Rural-Urban Differences in Alzheimer's Disease and Related Disorders Diagnostic Prevalence in Kentucky and West Virginia","title_match":false,"year":2016},{"alzhub_score":79,"alzhub_url":"https://alzhub.org/study/clinical-and-biomarker-changes-in-dominantly-inherited-alzheimer-s-22784036","doi":"10.1056/nejmoa1202753","journal":"New England Journal of Medicine","n_participants":128,"pmid":"22784036","source_url":"https://pubmed.ncbi.nlm.nih.gov/22784036/","study_design":"cross-sectional","title":"Clinical and Biomarker Changes in Dominantly Inherited Alzheimer's Disease","title_match":false,"year":2012},{"alzhub_score":56,"alzhub_url":"https://alzhub.org/study/the-determinants-of-quality-of-life-of-nursing-home-residents-with-28558375","doi":"10.1159/000477087","journal":"Dementia and Geriatric Cognitive Disorders","n_participants":207,"pmid":"28558375","source_url":"https://pubmed.ncbi.nlm.nih.gov/28558375/","study_design":"cross-sectional","title":"The Determinants of Quality of Life of Nursing Home Residents with Young-Onset Dementia and the Differences between Dementia Subtypes","title_match":true,"year":2017},{"alzhub_score":64,"alzhub_url":"https://alzhub.org/study/cloning-of-a-gene-bearing-missense-mutations-in-early-onset-familial-7596406","doi":"10.1038/375754a0","journal":"Nature","n_participants":null,"pmid":"7596406","source_url":"https://pubmed.ncbi.nlm.nih.gov/7596406/","study_design":null,"title":"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease","title_match":true,"year":1995},{"alzhub_score":61,"alzhub_url":"https://alzhub.org/study/the-amyloid-hypothesis-of-alzheimer-s-disease-at-25-years-27025652","doi":"10.15252/emmm.201606210","journal":"EMBO Molecular Medicine","n_participants":null,"pmid":"27025652","source_url":"https://pubmed.ncbi.nlm.nih.gov/27025652/","study_design":null,"title":"The amyloid hypothesis of Alzheimer's disease at 25 years","title_match":false,"year":2016},{"alzhub_score":63,"alzhub_url":"https://alzhub.org/study/secretase-activity-clinical-features-and-biomarkers-of-autosomal-39074479","doi":"10.1016/s1474-4422(24)00236-9","journal":"The Lancet. Neurology","n_participants":190,"pmid":"39074479","source_url":"https://pubmed.ncbi.nlm.nih.gov/39074479/","study_design":"cross-sectional","title":"\u03b3-Secretase activity, clinical features, and biomarkers of autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analysis of the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS)","title_match":true,"year":2024},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/location-of-pathogenic-variants-in-psen1-impacts-progression-of-37291760","doi":"10.1111/acel.13871","journal":"Aging cell","n_participants":null,"pmid":"37291760","source_url":"https://pubmed.ncbi.nlm.nih.gov/37291760/","study_design":"cross-sectional","title":"Location of pathogenic variants in PSEN1 impacts progression of cognitive, clinical, and neurodegenerative measures in autosomal-dominant Alzheimer's disease","title_match":true,"year":2023},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/retinal-imaging-findings-in-carriers-with-psen1-associated-early-33180114","doi":"10.1001/jamaophthalmol.2020.4909","journal":"JAMA ophthalmology","n_participants":null,"pmid":"33180114","source_url":"https://pubmed.ncbi.nlm.nih.gov/33180114/","study_design":"cross-sectional","title":"Retinal Imaging Findings in Carriers With PSEN1-Associated Early-Onset Familial Alzheimer Disease Before Onset of Cognitive Symptoms","title_match":true,"year":2021},{"alzhub_score":31,"alzhub_url":"https://alzhub.org/study/screening-for-mutations-of-the-precursor-of-beta-amyloid-protein-in-8023065","doi":null,"journal":"Revue neurologique","n_participants":null,"pmid":"8023065","source_url":"https://pubmed.ncbi.nlm.nih.gov/8023065/","study_design":"clinical trial","title":"[Screening for mutations of the precursor of beta-amyloid protein in early forms of Alzheimer disease. French Study Group of Alzheimer Disease]","title_match":false,"year":1993},{"alzhub_score":42,"alzhub_url":"https://alzhub.org/study/investigating-the-role-of-neuroinflammation-and-brain-clearance-in-40754329","doi":"10.1136/bmjopen-2025-102668","journal":"BMJ open","n_participants":25,"pmid":"40754329","source_url":"https://pubmed.ncbi.nlm.nih.gov/40754329/","study_design":null,"title":"Investigating the role of neuroinflammation and brain clearance in frontotemporal lobar degeneration using 7T MRI and fluid biomarkers: protocol for a cross-sectional study in a tertiary care setting","title_match":false,"year":2025},{"alzhub_score":44,"alzhub_url":"https://alzhub.org/study/consensus-report-of-the-working-group-on-molecular-and-biochemical-73d1d490","doi":"10.1016/s0197-4580(98)00022-0","journal":"Neurobiology of Aging","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.1016/s0197-4580(98)00022-0","study_design":null,"title":"Consensus Report of the Working Group on: \u201cMolecular and Biochemical Markers of Alzheimer\u2019s Disease\u201d","title_match":false,"year":1998},{"alzhub_score":59,"alzhub_url":"https://alzhub.org/study/clinical-and-biomarker-changes-of-alzheimer-s-disease-in-adults-with-32593336","doi":"10.1016/s0140-6736(20)30689-9","journal":"The Lancet","n_participants":null,"pmid":"32593336","source_url":"https://pubmed.ncbi.nlm.nih.gov/32593336/","study_design":null,"title":"Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study","title_match":false,"year":2020},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/lewy-bodies-in-alzheimer-s-disease-a-neuropathological-review-of-145-10885656","doi":"10.1111/j.1750-3639.2000.tb00269.x","journal":"Brain Pathology","n_participants":null,"pmid":"10885656","source_url":"https://pubmed.ncbi.nlm.nih.gov/10885656/","study_design":null,"title":"Lewy Bodies in Alzheimer's Disease: A Neuropathological Review of 145 Cases Using \u03b1\u2010Synuclein Immunohistochemistry","title_match":false,"year":2000},{"alzhub_score":51,"alzhub_url":"https://alzhub.org/study/autosomal-dominant-alzheimer-s-disease-a-review-and-proposal-for-the-21a895c8","doi":"10.1186/alzrt59","journal":"Alzheimer s Research & Therapy","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.1186/alzrt59","study_design":null,"title":"Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease","title_match":true,"year":2010},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/tau-pathology-in-a-family-with-dementia-and-a-p301l-mutation-in-tau-10218629","doi":"10.1097/00005072-199904000-00004","journal":"Journal of neuropathology and experimental neurology","n_participants":null,"pmid":"10218629","source_url":"https://pubmed.ncbi.nlm.nih.gov/10218629/","study_design":null,"title":"Tau pathology in a family with dementia and a P301L mutation in tau","title_match":false,"year":1999},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/refining-frontotemporal-dementia-with-parkinsonism-linked-to-18413467","doi":"10.1001/archneur.65.4.460","journal":"Archives of neurology","n_participants":null,"pmid":"18413467","source_url":"https://pubmed.ncbi.nlm.nih.gov/18413467/","study_design":null,"title":"Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN)","title_match":false,"year":2008},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/alzheimer-s-disease-including-focal-presentations-30925614","doi":"10.1055/s-0039-1681041","journal":"Seminars in neurology","n_participants":null,"pmid":"30925614","source_url":"https://pubmed.ncbi.nlm.nih.gov/30925614/","study_design":null,"title":"Alzheimer's Disease Including Focal Presentations","title_match":false,"year":2019},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/associations-between-cognitively-stimulating-leisure-activities-24989949","doi":"10.1002/gps.4155","journal":"International journal of geriatric psychiatry","n_participants":65000,"pmid":"24989949","source_url":"https://pubmed.ncbi.nlm.nih.gov/24989949/","study_design":null,"title":"Associations between cognitively stimulating leisure activities, cognitive function and age-related cognitive decline","title_match":false,"year":2015},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/a-comprehensive-review-and-androgen-deprivation-therapy-and-its-38774717","doi":"10.2147/dnnd.s445130","journal":"Degenerative neurological and neuromuscular disease","n_participants":null,"pmid":"38774717","source_url":"https://pubmed.ncbi.nlm.nih.gov/38774717/","study_design":null,"title":"A Comprehensive Review and Androgen Deprivation Therapy and Its Impact on Alzheimer's Disease Risk in Older Men with Prostate Cancer","title_match":false,"year":2024},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/limited-engagement-in-yet-clear-preferences-for-advance-care-planning-31342861","doi":"10.1177/0269216319864777","journal":"Palliative medicine","n_participants":15,"pmid":"31342861","source_url":"https://pubmed.ncbi.nlm.nih.gov/31342861/","study_design":null,"title":"Limited engagement in, yet clear preferences for advance care planning in young-onset dementia: An exploratory interview-study with family caregivers","title_match":true,"year":2019},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/a-qualitative-study-with-people-with-young-onset-dementia-and-their-35470742","doi":"10.1177/02692163221090385","journal":"Palliative medicine","n_participants":null,"pmid":"35470742","source_url":"https://pubmed.ncbi.nlm.nih.gov/35470742/","study_design":null,"title":"A qualitative study with people with young-onset dementia and their family caregivers on advance care planning: A holistic, flexible, and relational approach is recommended","title_match":true,"year":2022},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/csf-neurofilament-proteins-in-the-differential-diagnosis-of-dementia-17314187","doi":"10.1136/jnnp.2006.107326","journal":"Journal of neurology, neurosurgery, and psychiatry","n_participants":null,"pmid":"17314187","source_url":"https://pubmed.ncbi.nlm.nih.gov/17314187/","study_design":null,"title":"CSF neurofilament proteins in the differential diagnosis of dementia","title_match":false,"year":2007},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/plasma-biomarkers-of-astrocytic-and-neuronal-dysfunction-in-early-and-31879236","doi":"10.1016/j.jalz.2019.09.004","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"31879236","source_url":"https://pubmed.ncbi.nlm.nih.gov/31879236/","study_design":null,"title":"Plasma biomarkers of astrocytic and neuronal dysfunction in early- and late-onset Alzheimer's disease","title_match":false,"year":2020},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/mutant-presenilins-specifically-elevate-the-levels-of-the-42-residue-14645205","doi":"10.1093/hmg/ddh019","journal":"Human molecular genetics","n_participants":null,"pmid":"14645205","source_url":"https://pubmed.ncbi.nlm.nih.gov/14645205/","study_design":null,"title":"Mutant presenilins specifically elevate the levels of the 42 residue beta-amyloid peptide in vivo: evidence for augmentation of a 42-specific gamma secretase","title_match":false,"year":2004},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/characterization-and-molecular-profiling-of-psen1-familial-alzheimer-24416243","doi":"10.1371/journal.pone.0084547","journal":"PloS one","n_participants":null,"pmid":"24416243","source_url":"https://pubmed.ncbi.nlm.nih.gov/24416243/","study_design":null,"title":"Characterization and molecular profiling of PSEN1 familial Alzheimer's disease iPSC-derived neural progenitors","title_match":false,"year":2014},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/csf-a42-predicts-early-onset-dementia-in-parkinson-disease-24748671","doi":"10.1212/wnl.0000000000000425","journal":"Neurology","n_participants":20,"pmid":"24748671","source_url":"https://pubmed.ncbi.nlm.nih.gov/24748671/","study_design":null,"title":"CSF A\u03b242 predicts early-onset dementia in Parkinson disease","title_match":true,"year":2014},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/alzheimer-presenilin-1-mutations-dramatically-reduce-trimming-of-long-25239621","doi":"10.1074/jbc.m114.581165","journal":"The Journal of biological chemistry","n_participants":null,"pmid":"25239621","source_url":"https://pubmed.ncbi.nlm.nih.gov/25239621/","study_design":null,"title":"Alzheimer presenilin-1 mutations dramatically reduce trimming of long amyloid \u03b2-peptides (A\u03b2) by \u03b3-secretase to increase 42-to-40-residue A\u03b2","title_match":false,"year":2014},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/activation-and-intrinsic-gamma-secretase-activity-of-presenilin-1-21115843","doi":"10.1073/pnas.1013246107","journal":"Proceedings of the National Academy of Sciences of the United States of America","n_participants":null,"pmid":"21115843","source_url":"https://pubmed.ncbi.nlm.nih.gov/21115843/","study_design":null,"title":"Activation and intrinsic gamma-secretase activity of presenilin 1","title_match":false,"year":2010},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/dissociation-between-the-processivity-and-total-activity-of-secretase-21919498","doi":"10.1021/bi2007146","journal":"Biochemistry","n_participants":null,"pmid":"21919498","source_url":"https://pubmed.ncbi.nlm.nih.gov/21919498/","study_design":null,"title":"Dissociation between the processivity and total activity of \u03b3-secretase: implications for the mechanism of Alzheimer's disease-causing presenilin mutations","title_match":false,"year":2011},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/amyloid-beta-a-d7h-mutation-increases-oligomeric-a42-and-alters-22558227","doi":"10.1371/journal.pone.0035807","journal":"PloS one","n_participants":null,"pmid":"22558227","source_url":"https://pubmed.ncbi.nlm.nih.gov/22558227/","study_design":null,"title":"Amyloid-beta (A\u03b2) D7H mutation increases oligomeric A\u03b242 and alters properties of A\u03b2-zinc/copper assemblies","title_match":false,"year":2012},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/alzheimer-s-disease-mutations-in-app-but-not-secretase-modulators-23907250","doi":"10.1038/ncomms3246","journal":"Nature communications","n_participants":null,"pmid":"23907250","source_url":"https://pubmed.ncbi.nlm.nih.gov/23907250/","study_design":null,"title":"Alzheimer's disease mutations in APP but not \u03b3-secretase modulators affect epsilon-cleavage-dependent AICD production","title_match":false,"year":2013},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/familial-alzheimer-s-disease-mutations-in-amyloid-protein-precursor-33450230","doi":"10.1016/j.jbc.2021.100281","journal":"The Journal of biological chemistry","n_participants":null,"pmid":"33450230","source_url":"https://pubmed.ncbi.nlm.nih.gov/33450230/","study_design":null,"title":"Familial Alzheimer's disease mutations in amyloid protein precursor alter proteolysis by \u03b3-secretase to increase amyloid \u03b2-peptides of \u226545 residues","title_match":false,"year":2021},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/comparison-of-abeta-levels-in-the-brain-of-familial-and-sporadic-19524115","doi":"10.1016/j.neuint.2009.03.007","journal":"Neurochemistry international","n_participants":null,"pmid":"19524115","source_url":"https://pubmed.ncbi.nlm.nih.gov/19524115/","study_design":null,"title":"Comparison of Abeta levels in the brain of familial and sporadic Alzheimer's disease","title_match":false,"year":2009},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/rapid-doubling-of-alzheimer-s-amyloid-40-and-42-levels-in-brains-of-24358824","doi":"10.12688/f1000research.1-70.v1","journal":"F1000Research","n_participants":null,"pmid":"24358824","source_url":"https://pubmed.ncbi.nlm.nih.gov/24358824/","study_design":null,"title":"Rapid doubling of Alzheimer's amyloid-\u03b240 and 42 levels in brains of mice exposed to a nickel nanoparticle model of air pollution","title_match":false,"year":2012},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/presenilin-1-adopts-pathogenic-conformation-in-normal-aging-and-in-23138650","doi":"10.1007/s00401-012-1065-6","journal":"Acta neuropathologica","n_participants":null,"pmid":"23138650","source_url":"https://pubmed.ncbi.nlm.nih.gov/23138650/","study_design":null,"title":"Presenilin-1 adopts pathogenic conformation in normal aging and in sporadic Alzheimer's disease","title_match":false,"year":2013},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/riluzole-reduces-amyloid-beta-pathology-improves-memory-and-restores-30108205","doi":"10.1038/s41398-018-0201-z","journal":"Translational psychiatry","n_participants":null,"pmid":"30108205","source_url":"https://pubmed.ncbi.nlm.nih.gov/30108205/","study_design":null,"title":"Riluzole reduces amyloid beta pathology, improves memory, and restores gene expression changes in a transgenic mouse model of early-onset Alzheimer's disease","title_match":true,"year":2018},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/plasma-glial-fibrillary-acidic-protein-in-autosomal-dominant-36576155","doi":"10.1002/alz.12879","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"36576155","source_url":"https://pubmed.ncbi.nlm.nih.gov/36576155/","study_design":null,"title":"Plasma glial fibrillary acidic protein in autosomal dominant Alzheimer's disease: Associations with A\u03b2-PET, neurodegeneration, and cognition","title_match":true,"year":2023},{"alzhub_score":71,"alzhub_url":"https://alzhub.org/study/plasma-biomarker-profiles-in-autosomal-dominant-alzheimer-s-disease-36626935","doi":"10.1093/brain/awac399","journal":"Brain : a journal of neurology","n_participants":164,"pmid":"36626935","source_url":"https://pubmed.ncbi.nlm.nih.gov/36626935/","study_design":"longitudinal study","title":"Plasma biomarker profiles in autosomal dominant Alzheimer's disease","title_match":true,"year":2023},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/a-comprehensive-evaluation-of-the-process-of-copying-a-complex-figure-32491988","doi":"10.2196/18136","journal":"Journal of medical Internet research","n_participants":null,"pmid":"32491988","source_url":"https://pubmed.ncbi.nlm.nih.gov/32491988/","study_design":null,"title":"A Comprehensive Evaluation of the Process of Copying a Complex Figure in Early- and Late-Onset Alzheimer Disease: A Quantitative Analysis of Digital Pen Data","title_match":false,"year":2020},{"alzhub_score":64,"alzhub_url":"https://alzhub.org/study/thirty-years-of-alzheimer-s-disease-genetics-the-implications-of-18802446","doi":"10.1038/nrn2494","journal":"Nature reviews. Neuroscience","n_participants":null,"pmid":"18802446","source_url":"https://pubmed.ncbi.nlm.nih.gov/18802446/","study_design":"meta-analysis","title":"Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses","title_match":false,"year":2008},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/resistance-to-autosomal-dominant-alzheimer-s-disease-in-an-apoe3-31686034","doi":"10.1038/s41591-019-0611-3","journal":"Nature medicine","n_participants":null,"pmid":"31686034","source_url":"https://pubmed.ncbi.nlm.nih.gov/31686034/","study_design":null,"title":"Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report","title_match":true,"year":2019},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/molecular-genetics-of-early-onset-alzheimer-s-disease-revisited-27016693","doi":"10.1016/j.jalz.2016.01.012","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"27016693","source_url":"https://pubmed.ncbi.nlm.nih.gov/27016693/","study_design":null,"title":"Molecular genetics of early-onset Alzheimer's disease revisited","title_match":true,"year":2016},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/the-multiplex-model-of-the-genetics-of-alzheimer-s-disease-32112059","doi":"10.1038/s41593-020-0599-5","journal":"Nature neuroscience","n_participants":null,"pmid":"32112059","source_url":"https://pubmed.ncbi.nlm.nih.gov/32112059/","study_design":null,"title":"The multiplex model of the genetics of Alzheimer's disease","title_match":false,"year":2020},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/alzheimer-s-disease-an-updated-overview-of-its-genetics-36835161","doi":"10.3390/ijms24043754","journal":"International journal of molecular sciences","n_participants":null,"pmid":"36835161","source_url":"https://pubmed.ncbi.nlm.nih.gov/36835161/","study_design":null,"title":"Alzheimer's Disease: An Updated Overview of Its Genetics","title_match":false,"year":2023},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/the-genetic-architecture-of-alzheimer-s-disease-beyond-app-psens-and-20594621","doi":"10.1016/j.neurobiolaging.2010.03.025","journal":"Neurobiology of aging","n_participants":null,"pmid":"20594621","source_url":"https://pubmed.ncbi.nlm.nih.gov/20594621/","study_design":null,"title":"The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE","title_match":false,"year":2012},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/epidemiology-and-etiology-of-alzheimer-s-disease-from-genetic-to-non-23919770","doi":"10.2174/15672050113109990155","journal":"Current Alzheimer research","n_participants":null,"pmid":"23919770","source_url":"https://pubmed.ncbi.nlm.nih.gov/23919770/","study_design":null,"title":"Epidemiology and etiology of Alzheimer's disease: from genetic to non-genetic factors","title_match":false,"year":2013},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/familial-alzheimer-s-disease-linked-presenilin-1-variants-elevate-8938131","doi":"10.1016/s0896-6273(00)80230-5","journal":"Neuron","n_participants":null,"pmid":"8938131","source_url":"https://pubmed.ncbi.nlm.nih.gov/8938131/","study_design":null,"title":"Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo","title_match":false,"year":1996},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/increased-amyloid-beta42-43-in-brains-of-mice-expressing-mutant-8878479","doi":"10.1038/383710a0","journal":"Nature","n_participants":null,"pmid":"8878479","source_url":"https://pubmed.ncbi.nlm.nih.gov/8878479/","study_design":null,"title":"Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1","title_match":false,"year":1996},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/lysosomal-proteolysis-and-autophagy-require-presenilin-1-and-are-20541250","doi":"10.1016/j.cell.2010.05.008","journal":"Cell","n_participants":null,"pmid":"20541250","source_url":"https://pubmed.ncbi.nlm.nih.gov/20541250/","study_design":null,"title":"Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations","title_match":false,"year":2010},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/mutant-presenilins-of-alzheimer-s-disease-increase-production-of-42-8986743","doi":"10.1038/nm0197-67","journal":"Nature medicine","n_participants":null,"pmid":"8986743","source_url":"https://pubmed.ncbi.nlm.nih.gov/8986743/","study_design":null,"title":"Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice","title_match":false,"year":1997},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/early-onset-alzheimer-s-disease-caused-by-mutations-at-codon-717-of-1944558","doi":"10.1038/353844a0","journal":"Nature","n_participants":null,"pmid":"1944558","source_url":"https://pubmed.ncbi.nlm.nih.gov/1944558/","study_design":null,"title":"Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene","title_match":true,"year":1991},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/efficient-introduction-of-specific-homozygous-and-heterozygous-27120160","doi":"10.1038/nature17664","journal":"Nature","n_participants":null,"pmid":"27120160","source_url":"https://pubmed.ncbi.nlm.nih.gov/27120160/","study_design":null,"title":"Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9","title_match":false,"year":2016},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/skeletal-and-cns-defects-in-presenilin-1-deficient-mice-9160754","doi":"10.1016/s0092-8674(00)80244-5","journal":"Cell","n_participants":null,"pmid":"9160754","source_url":"https://pubmed.ncbi.nlm.nih.gov/9160754/","study_design":null,"title":"Skeletal and CNS defects in Presenilin-1-deficient mice","title_match":false,"year":1997},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/photoactivated-gamma-secretase-inhibitors-directed-to-the-active-site-10864326","doi":"10.1038/35015085","journal":"Nature","n_participants":null,"pmid":"10864326","source_url":"https://pubmed.ncbi.nlm.nih.gov/10864326/","study_design":null,"title":"Photoactivated gamma-secretase inhibitors directed to the active site covalently label presenilin 1","title_match":false,"year":2000},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/observation-of-metastable-abeta-amyloid-protofibrils-by-atomic-force-9190286","doi":"10.1016/s1074-5521(97)90255-6","journal":"Chemistry & biology","n_participants":null,"pmid":"9190286","source_url":"https://pubmed.ncbi.nlm.nih.gov/9190286/","study_design":null,"title":"Observation of metastable Abeta amyloid protofibrils by atomic force microscopy","title_match":false,"year":1997},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/presenilin-1-is-required-for-notch1-and-dii1-expression-in-the-9153393","doi":"10.1038/387288a0","journal":"Nature","n_participants":null,"pmid":"9153393","source_url":"https://pubmed.ncbi.nlm.nih.gov/9153393/","study_design":null,"title":"Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm","title_match":false,"year":1997},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/beta-amyloid-precursor-protein-deficient-mice-show-reactive-gliosis-7758106","doi":"10.1016/0092-8674(95)90073-x","journal":"Cell","n_participants":null,"pmid":"7758106","source_url":"https://pubmed.ncbi.nlm.nih.gov/7758106/","study_design":null,"title":"beta-Amyloid precursor protein-deficient mice show reactive gliosis and decreased locomotor activity","title_match":false,"year":1995},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/oxidative-modifications-and-down-regulation-of-ubiquitin-carboxyl-14722078","doi":"10.1074/jbc.m314124200","journal":"The Journal of biological chemistry","n_participants":null,"pmid":"14722078","source_url":"https://pubmed.ncbi.nlm.nih.gov/14722078/","study_design":null,"title":"Oxidative modifications and down-regulation of ubiquitin carboxyl-terminal hydrolase L1 associated with idiopathic Parkinson's and Alzheimer's diseases","title_match":false,"year":2004},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/distinct-18f-av-1451-tau-pet-retention-patterns-in-early-and-late-29050382","doi":"10.1093/brain/awx171","journal":"Brain : a journal of neurology","n_participants":20,"pmid":"29050382","source_url":"https://pubmed.ncbi.nlm.nih.gov/29050382/","study_design":null,"title":"Distinct 18F-AV-1451 tau PET retention patterns in early- and late-onset Alzheimer's disease","title_match":false,"year":2017},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/segregation-of-functional-networks-is-associated-with-cognitive-33725114","doi":"10.1093/brain/awab112","journal":"Brain : a journal of neurology","n_participants":108,"pmid":"33725114","source_url":"https://pubmed.ncbi.nlm.nih.gov/33725114/","study_design":null,"title":"Segregation of functional networks is associated with cognitive resilience in Alzheimer's disease","title_match":false,"year":2021},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/locus-coeruleus-integrity-is-related-to-tau-burden-and-memory-loss-in-35045380","doi":"10.1016/j.neurobiolaging.2021.11.006","journal":"Neurobiology of aging","n_participants":null,"pmid":"35045380","source_url":"https://pubmed.ncbi.nlm.nih.gov/35045380/","study_design":null,"title":"Locus coeruleus integrity is related to tau burden and memory loss in autosomal-dominant Alzheimer's disease","title_match":true,"year":2022},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/predicting-future-rates-of-tau-accumulation-on-pet-33094327","doi":"10.1093/brain/awaa248","journal":"Brain : a journal of neurology","n_participants":203,"pmid":"33094327","source_url":"https://pubmed.ncbi.nlm.nih.gov/33094327/","study_design":null,"title":"Predicting future rates of tau accumulation on PET","title_match":false,"year":2020},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/regional-variability-of-imaging-biomarkers-in-autosomal-dominant-24194552","doi":"10.1073/pnas.1317918110","journal":"Proceedings of the National Academy of Sciences of the United States of America","n_participants":null,"pmid":"24194552","source_url":"https://pubmed.ncbi.nlm.nih.gov/24194552/","study_design":"longitudinal study","title":"Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease","title_match":true,"year":2013},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/amyloid-deposition-begins-in-the-striatum-of-presenilin-1-mutation-17553989","doi":"10.1523/jneurosci.0730-07.2007","journal":"The Journal of neuroscience : the official journal of the Society for Neuroscience","n_participants":null,"pmid":"17553989","source_url":"https://pubmed.ncbi.nlm.nih.gov/17553989/","study_design":null,"title":"Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees","title_match":false,"year":2007},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/diverging-patterns-of-amyloid-deposition-and-hypometabolism-in-23358601","doi":"10.1093/brain/aws327","journal":"Brain : a journal of neurology","n_participants":17,"pmid":"23358601","source_url":"https://pubmed.ncbi.nlm.nih.gov/23358601/","study_design":null,"title":"Diverging patterns of amyloid deposition and hypometabolism in clinical variants of probable Alzheimer's disease","title_match":false,"year":2013},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/increased-metabolic-vulnerability-in-early-onset-alzheimer-s-disease-20080878","doi":"10.1093/brain/awp326","journal":"Brain : a journal of neurology","n_participants":21,"pmid":"20080878","source_url":"https://pubmed.ncbi.nlm.nih.gov/20080878/","study_design":null,"title":"Increased metabolic vulnerability in early-onset Alzheimer's disease is not related to amyloid burden","title_match":true,"year":2010},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/the-topography-of-grey-matter-involvement-in-early-and-late-onset-17293358","doi":"10.1093/brain/awl377","journal":"Brain : a journal of neurology","n_participants":null,"pmid":"17293358","source_url":"https://pubmed.ncbi.nlm.nih.gov/17293358/","study_design":null,"title":"The topography of grey matter involvement in early and late onset Alzheimer's disease","title_match":false,"year":2007},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/dominantly-inherited-alzheimer-network-facilitating-research-and-24131566","doi":"10.1186/alzrt213","journal":"Alzheimer's research & therapy","n_participants":null,"pmid":"24131566","source_url":"https://pubmed.ncbi.nlm.nih.gov/24131566/","study_design":"longitudinal study","title":"Dominantly Inherited Alzheimer Network: facilitating research and clinical trials","title_match":false,"year":2013},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/measuring-cognition-and-function-in-the-preclinical-stage-of-29955653","doi":"10.1016/j.trci.2018.01.003","journal":"Alzheimer's & dementia (New York, N. Y.)","n_participants":null,"pmid":"29955653","source_url":"https://pubmed.ncbi.nlm.nih.gov/29955653/","study_design":null,"title":"Measuring cognition and function in the preclinical stage of Alzheimer's disease","title_match":false,"year":2018},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/sorl1-deficiency-in-human-excitatory-neurons-causes-app-dependent-34133918","doi":"10.1016/j.celrep.2021.109259","journal":"Cell reports","n_participants":null,"pmid":"34133918","source_url":"https://pubmed.ncbi.nlm.nih.gov/34133918/","study_design":null,"title":"SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network","title_match":false,"year":2021},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/facilitation-of-lin-12-mediated-signalling-by-sel-12-a-caenorhabditis-7566091","doi":"10.1038/377351a0","journal":"Nature","n_participants":null,"pmid":"7566091","source_url":"https://pubmed.ncbi.nlm.nih.gov/7566091/","study_design":null,"title":"Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene","title_match":false,"year":1995},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/aberrant-subcellular-neuronal-calcium-regulation-in-aging-and-20950656","doi":"10.1016/j.bbamcr.2010.10.005","journal":"Biochimica et biophysica acta","n_participants":null,"pmid":"20950656","source_url":"https://pubmed.ncbi.nlm.nih.gov/20950656/","study_design":null,"title":"Aberrant subcellular neuronal calcium regulation in aging and Alzheimer's disease","title_match":false,"year":2011},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/reverse-genetic-analysis-of-caenorhabditis-elegans-presenilins-10051671","doi":"10.1073/pnas.96.5.2497","journal":"Proceedings of the National Academy of Sciences of the United States of America","n_participants":null,"pmid":"10051671","source_url":"https://pubmed.ncbi.nlm.nih.gov/10051671/","study_design":null,"title":"Reverse genetic analysis of Caenorhabditis elegans presenilins reveals redundant but unequal roles for sel-12 and hop-1 in Notch-pathway signaling","title_match":false,"year":1999},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/genetics-functions-and-clinical-impact-of-presenilin-1-psen1-gene-36142879","doi":"10.3390/ijms231810970","journal":"International journal of molecular sciences","n_participants":null,"pmid":"36142879","source_url":"https://pubmed.ncbi.nlm.nih.gov/36142879/","study_design":null,"title":"Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene","title_match":false,"year":2022},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/characterization-of-the-3xtg-ad-mouse-model-of-alzheimer-s-disease-20471965","doi":"10.1016/j.brainres.2010.05.013","journal":"Brain research","n_participants":null,"pmid":"20471965","source_url":"https://pubmed.ncbi.nlm.nih.gov/20471965/","study_design":null,"title":"Characterization of the 3xTg-AD mouse model of Alzheimer's disease: part 1. Circadian changes","title_match":false,"year":2010},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/a-quantitative-morphometric-analysis-of-the-neuronal-and-synaptic-3572454","doi":"10.1016/0022-510x(87)90057-8","journal":"Journal of the neurological sciences","n_participants":null,"pmid":"3572454","source_url":"https://pubmed.ncbi.nlm.nih.gov/3572454/","study_design":null,"title":"A quantitative morphometric analysis of the neuronal and synaptic content of the frontal and temporal cortex in patients with Alzheimer's disease","title_match":false,"year":1987},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/2011-alzheimer-s-disease-facts-and-figures-21414557","doi":"10.1016/j.jalz.2011.02.004","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":200000,"pmid":"21414557","source_url":"https://pubmed.ncbi.nlm.nih.gov/21414557/","study_design":null,"title":"2011 Alzheimer's disease facts and figures","title_match":false,"year":2011},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/the-care-needs-and-experiences-with-the-use-of-services-of-people-27271788","doi":"10.1002/gps.4502","journal":"International journal of geriatric psychiatry","n_participants":null,"pmid":"27271788","source_url":"https://pubmed.ncbi.nlm.nih.gov/27271788/","study_design":null,"title":"The care needs and experiences with the use of services of people with young-onset dementia and their caregivers: a systematic review","title_match":true,"year":2016},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/imaging-of-onset-and-progression-of-alzheimer-s-disease-with-voxel-11476837","doi":"10.1016/s0140-6736(01)05408-3","journal":"Lancet (London, England)","n_participants":20,"pmid":"11476837","source_url":"https://pubmed.ncbi.nlm.nih.gov/11476837/","study_design":null,"title":"Imaging of onset and progression of Alzheimer's disease with voxel-compression mapping of serial magnetic resonance images","title_match":false,"year":2001},{"alzhub_score":69,"alzhub_url":"https://alzhub.org/study/the-prevalence-and-incidence-of-early-onset-dementia-among-adults-34378867","doi":"10.1002/aur.2590","journal":"Autism research : official journal of the International Society for Autism Research","n_participants":12648,"pmid":"34378867","source_url":"https://pubmed.ncbi.nlm.nih.gov/34378867/","study_design":"case-control study","title":"The prevalence and incidence of early-onset dementia among adults with autism spectrum disorder","title_match":true,"year":2021},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/clinical-features-of-early-onset-alzheimer-disease-in-a-large-kindred-9052708","doi":"10.1001/jama.1997.03540340027028","journal":"JAMA","n_participants":128,"pmid":"9052708","source_url":"https://pubmed.ncbi.nlm.nih.gov/9052708/","study_design":null,"title":"Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation","title_match":true,"year":1997},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/alzheimer-s-related-endosome-dysfunction-in-down-syndrome-is-abeta-20080541","doi":"10.1073/pnas.0908953107","journal":"Proceedings of the National Academy of Sciences of the United States of America","n_participants":null,"pmid":"20080541","source_url":"https://pubmed.ncbi.nlm.nih.gov/20080541/","study_design":null,"title":"Alzheimer's-related endosome dysfunction in Down syndrome is Abeta-independent but requires APP and is reversed by BACE-1 inhibition","title_match":false,"year":2010},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/a-human-stem-cell-model-of-early-alzheimer-s-disease-pathology-in-22344463","doi":"10.1126/scitranslmed.3003771","journal":"Science translational medicine","n_participants":null,"pmid":"22344463","source_url":"https://pubmed.ncbi.nlm.nih.gov/22344463/","study_design":null,"title":"A human stem cell model of early Alzheimer's disease pathology in Down syndrome","title_match":false,"year":2012},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/down-syndrome-partial-trisomy-21-and-absence-of-alzheimer-s-disease-27983553","doi":"10.3233/jad-160836","journal":"Journal of Alzheimer's disease : JAD","n_participants":null,"pmid":"27983553","source_url":"https://pubmed.ncbi.nlm.nih.gov/27983553/","study_design":null,"title":"Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer's Disease: The Role of APP","title_match":false,"year":2017},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/genetics-of-amyloid-precursor-protein-in-alzheimer-s-disease-28003277","doi":"10.1101/cshperspect.a024539","journal":"Cold Spring Harbor perspectives in medicine","n_participants":null,"pmid":"28003277","source_url":"https://pubmed.ncbi.nlm.nih.gov/28003277/","study_design":null,"title":"Genetics of \u03b2-Amyloid Precursor Protein in Alzheimer's Disease","title_match":false,"year":2017},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/truncated-beta-amyloid-peptide-channels-provide-an-alternative-20308552","doi":"10.1073/pnas.0914251107","journal":"Proceedings of the National Academy of Sciences of the United States of America","n_participants":null,"pmid":"20308552","source_url":"https://pubmed.ncbi.nlm.nih.gov/20308552/","study_design":null,"title":"Truncated beta-amyloid peptide channels provide an alternative mechanism for Alzheimer's Disease and Down syndrome","title_match":false,"year":2010},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/the-amyloid-plaque-proteome-in-early-onset-alzheimer-s-disease-and-35418158","doi":"10.1186/s40478-022-01356-1","journal":"Acta neuropathologica communications","n_participants":null,"pmid":"35418158","source_url":"https://pubmed.ncbi.nlm.nih.gov/35418158/","study_design":null,"title":"The amyloid plaque proteome in early onset Alzheimer's disease and Down syndrome","title_match":true,"year":2022},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/alzheimer-presenilins-in-the-nuclear-membrane-interphase-kinetochores-9298903","doi":"10.1016/s0092-8674(00)80356-6","journal":"Cell","n_participants":null,"pmid":"9298903","source_url":"https://pubmed.ncbi.nlm.nih.gov/9298903/","study_design":null,"title":"Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation","title_match":false,"year":1997},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/down-syndrome-recent-progress-and-future-prospects-19297404","doi":"10.1093/hmg/ddp010","journal":"Human molecular genetics","n_participants":null,"pmid":"19297404","source_url":"https://pubmed.ncbi.nlm.nih.gov/19297404/","study_design":null,"title":"Down syndrome--recent progress and future prospects","title_match":false,"year":2009},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/dysfunction-of-autophagy-and-endosomal-lysosomal-pathways-roles-in-28988799","doi":"10.1016/j.freeradbiomed.2017.10.001","journal":"Free radical biology & medicine","n_participants":null,"pmid":"28988799","source_url":"https://pubmed.ncbi.nlm.nih.gov/28988799/","study_design":null,"title":"Dysfunction of autophagy and endosomal-lysosomal pathways: Roles in pathogenesis of Down syndrome and Alzheimer's Disease","title_match":false,"year":2018},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/trisomy-of-human-chromosome-21-enhances-amyloid-deposition-29945247","doi":"10.1093/brain/awy159","journal":"Brain : a journal of neurology","n_participants":null,"pmid":"29945247","source_url":"https://pubmed.ncbi.nlm.nih.gov/29945247/","study_design":null,"title":"Trisomy of human chromosome 21 enhances amyloid-\u03b2 deposition independently of an extra copy of APP","title_match":false,"year":2018},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/plasma-p-tau217-predicts-in-vivo-brain-pathology-and-cognition-in-36571821","doi":"10.1002/alz.12906","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":24,"pmid":"36571821","source_url":"https://pubmed.ncbi.nlm.nih.gov/36571821/","study_design":null,"title":"Plasma p-tau217 predicts in vivo brain pathology and cognition in autosomal dominant Alzheimer's disease","title_match":true,"year":2023},{"alzhub_score":63,"alzhub_url":"https://alzhub.org/study/plasma-p-tau231-in-the-presenilin-1-e280a-autosomal-dominant-40588692","doi":"10.1002/alz.70421","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"40588692","source_url":"https://pubmed.ncbi.nlm.nih.gov/40588692/","study_design":"longitudinal study","title":"Plasma p-tau231 in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: A cross-sectional and longitudinal cohort study","title_match":true,"year":2025},{"alzhub_score":70,"alzhub_url":"https://alzhub.org/study/presymptomatic-plasma-biomarkers-in-autosomal-dominant-alzheimer-s-42637536","doi":"10.1136/jnnp-2026-339037","journal":"Journal of neurology, neurosurgery, and psychiatry","n_participants":113,"pmid":"42637536","source_url":"https://pubmed.ncbi.nlm.nih.gov/42637536/","study_design":"cohort study","title":"Presymptomatic plasma biomarkers in autosomal dominant Alzheimer's disease: sequence and timing","title_match":true,"year":2026},{"alzhub_score":61,"alzhub_url":"https://alzhub.org/study/plasma-amyloid-ratios-in-autosomal-dominant-alzheimer-s-disease-the-33892504","doi":"10.1093/brain/awab166","journal":"Brain : a journal of neurology","n_participants":null,"pmid":"33892504","source_url":"https://pubmed.ncbi.nlm.nih.gov/33892504/","study_design":"cohort study","title":"Plasma amyloid-\u03b2 ratios in autosomal dominant Alzheimer's disease: the influence of genotype","title_match":true,"year":2021},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/a-novel-v272d-presenilin-mutation-associated-with-logopenia-31500908","doi":"10.1016/j.neurobiolaging.2019.07.002","journal":"Neurobiology of aging","n_participants":null,"pmid":"31500908","source_url":"https://pubmed.ncbi.nlm.nih.gov/31500908/","study_design":null,"title":"A novel V272D presenilin mutation associated with logopenia, disorientation, and apraxia in an autosomal-dominant Alzheimer's disease family","title_match":true,"year":2020},{"alzhub_score":61,"alzhub_url":"https://alzhub.org/study/cerebrospinal-fluid-biomarkers-in-the-longitudinal-early-onset-37491668","doi":"10.1002/alz.13399","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"37491668","source_url":"https://pubmed.ncbi.nlm.nih.gov/37491668/","study_design":"longitudinal study","title":"Cerebrospinal fluid biomarkers in the Longitudinal Early-onset Alzheimer's Disease Study","title_match":true,"year":2023},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/choriocapillaris-reduction-accurately-discriminates-against-early-38747519","doi":"10.1002/alz.13871","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"38747519","source_url":"https://pubmed.ncbi.nlm.nih.gov/38747519/","study_design":null,"title":"Choriocapillaris reduction accurately discriminates against early-onset Alzheimer's disease","title_match":true,"year":2024},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/relationships-of-csf-biomarkers-to-cortical-atrophy-in-early-onset-42477860","doi":"10.1002/alz.71479","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"42477860","source_url":"https://pubmed.ncbi.nlm.nih.gov/42477860/","study_design":null,"title":"Relationships of CSF biomarkers to cortical atrophy in early-onset Alzheimer's disease","title_match":true,"year":2026},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/psen2-mutation-spectrum-and-novel-functionally-validated-mutations-in-35491795","doi":"10.3233/jad-220194","journal":"Journal of Alzheimer's disease : JAD","n_participants":null,"pmid":"35491795","source_url":"https://pubmed.ncbi.nlm.nih.gov/35491795/","study_design":null,"title":"PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort","title_match":false,"year":2022},{"alzhub_score":63,"alzhub_url":"https://alzhub.org/study/relationship-between-physical-activity-and-biomarkers-of-pathology-39748841","doi":"10.1002/trc2.70003","journal":"Alzheimer's & dementia (New York, N. Y.)","n_participants":null,"pmid":"39748841","source_url":"https://pubmed.ncbi.nlm.nih.gov/39748841/","study_design":"longitudinal study","title":"Relationship between physical activity and biomarkers of pathology and neuroinflammation in preclinical autosomal-dominant Alzheimer's disease","title_match":true,"year":2024},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/crispr-cas9-treatment-partially-restores-amyloid-42-40-in-human-35505961","doi":"10.1016/j.omtn.2022.03.022","journal":"Molecular therapy. Nucleic acids","n_participants":null,"pmid":"35505961","source_url":"https://pubmed.ncbi.nlm.nih.gov/35505961/","study_design":null,"title":"CRISPR-Cas9 treatment partially restores amyloid-\u03b2 42/40 in human fibroblasts with the Alzheimer's disease PSEN 1 M146L mutation","title_match":false,"year":2022},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/cerebrospinal-fluid-biomarkers-and-cerebral-atrophy-in-distinct-25990306","doi":"10.1016/j.neurobiolaging.2015.04.011","journal":"Neurobiology of aging","n_participants":52,"pmid":"25990306","source_url":"https://pubmed.ncbi.nlm.nih.gov/25990306/","study_design":null,"title":"Cerebrospinal fluid biomarkers and cerebral atrophy in distinct clinical variants of probable Alzheimer's disease","title_match":false,"year":2015},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/cerebrospinal-fluid-biomarkers-in-familial-forms-of-alzheimer-s-25998699","doi":"10.1159/000381828","journal":"Dementia and geriatric cognitive disorders","n_participants":null,"pmid":"25998699","source_url":"https://pubmed.ncbi.nlm.nih.gov/25998699/","study_design":null,"title":"Cerebrospinal Fluid Biomarkers in Familial Forms of Alzheimer's Disease and Frontotemporal Dementia","title_match":false,"year":2015},{"alzhub_score":64,"alzhub_url":"https://alzhub.org/study/web-based-las-fname-and-blood-biomarkers-in-autosomal-dominant-41737720","doi":"10.1002/dad2.70289","journal":"Alzheimer's & dementia (Amsterdam, Netherlands)","n_participants":null,"pmid":"41737720","source_url":"https://pubmed.ncbi.nlm.nih.gov/41737720/","study_design":"longitudinal study","title":"Web-based LAS-FNAME and blood biomarkers in autosomal dominant Alzheimer's disease","title_match":true,"year":2026},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/combining-a-computerized-cognitive-test-with-serum-biomarkers-41143873","doi":"10.1177/13872877251389224","journal":"Journal of Alzheimer's disease : JAD","n_participants":54,"pmid":"41143873","source_url":"https://pubmed.ncbi.nlm.nih.gov/41143873/","study_design":null,"title":"Combining a computerized cognitive test with serum biomarkers improves detection of early-onset neurodegenerative disorders","title_match":false,"year":2025},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/effects-of-apoe4-and-apoe2-genotypes-on-subcortical-magnetic-34890142","doi":null,"journal":"Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing","n_participants":27535,"pmid":"34890142","source_url":"https://pubmed.ncbi.nlm.nih.gov/34890142/","study_design":null,"title":"Effects of ApoE4 and ApoE2 genotypes on subcortical magnetic susceptibility and microstructure in 27,535 participants from the UK Biobank","title_match":false,"year":2022},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/app-induced-patterned-neurodegeneration-is-exacerbated-by-apoe4-in-32580938","doi":"10.1534/g3.120.401486","journal":"G3 (Bethesda, Md.)","n_participants":null,"pmid":"32580938","source_url":"https://pubmed.ncbi.nlm.nih.gov/32580938/","study_design":null,"title":"APP-Induced Patterned Neurodegeneration Is Exacerbated by APOE4 in Caenorhabditis elegans","title_match":false,"year":2020},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/clinical-impact-of-whole-genome-sequencing-in-patients-with-early-35906014","doi":"10.1136/jnnp-2021-328146","journal":"Journal of neurology, neurosurgery, and psychiatry","n_participants":50,"pmid":"35906014","source_url":"https://pubmed.ncbi.nlm.nih.gov/35906014/","study_design":null,"title":"Clinical impact of whole-genome sequencing in patients with early-onset dementia","title_match":true,"year":2022},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/peripheral-trem2-mrna-levels-in-early-and-late-onset-alzheimer-32681391","doi":"10.1007/s11033-020-05661-7","journal":"Molecular biology reports","n_participants":null,"pmid":"32681391","source_url":"https://pubmed.ncbi.nlm.nih.gov/32681391/","study_design":null,"title":"Peripheral TREM2 mRNA levels in early and late-onset Alzheimer disease's patients","title_match":false,"year":2020},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/dian-dian-j-dian-tu-28739983","doi":"10.11477/mf.1416200811","journal":"Brain and nerve = Shinkei kenkyu no shinpo","n_participants":null,"pmid":"28739983","source_url":"https://pubmed.ncbi.nlm.nih.gov/28739983/","study_design":null,"title":"[DIAN/DIAN-J/DIAN-TU]","title_match":false,"year":2017},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/the-dian-study-24101429","doi":null,"journal":"Brain and nerve = Shinkei kenkyu no shinpo","n_participants":null,"pmid":"24101429","source_url":"https://pubmed.ncbi.nlm.nih.gov/24101429/","study_design":null,"title":"[The DIAN study]","title_match":false,"year":2013},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/app-psen1-and-psen2-mutations-in-asian-patients-with-early-onset-31557888","doi":"10.3390/ijms20194757","journal":"International journal of molecular sciences","n_participants":32,"pmid":"31557888","source_url":"https://pubmed.ncbi.nlm.nih.gov/31557888/","study_design":null,"title":"APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease","title_match":true,"year":2019},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/early-onset-familial-alzheimer-disease-variant-psen2-n141i-32741831","doi":"10.3233/jad-200492","journal":"Journal of Alzheimer's disease : JAD","n_participants":null,"pmid":"32741831","source_url":"https://pubmed.ncbi.nlm.nih.gov/32741831/","study_design":null,"title":"Early-Onset Familial Alzheimer Disease Variant PSEN2 N141I Heterozygosity is Associated with Altered Microglia Phenotype","title_match":true,"year":2020},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/presenilin-mutations-and-their-impact-on-neuronal-differentiation-in-34100423","doi":"10.4103/1673-5374.313016","journal":"Neural regeneration research","n_participants":null,"pmid":"34100423","source_url":"https://pubmed.ncbi.nlm.nih.gov/34100423/","study_design":null,"title":"Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease","title_match":false,"year":2022},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/genetic-study-of-young-onset-dementia-using-targeted-gene-panel-33580635","doi":"10.1002/ajmg.b.32836","journal":"American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics","n_participants":52,"pmid":"33580635","source_url":"https://pubmed.ncbi.nlm.nih.gov/33580635/","study_design":null,"title":"Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan","title_match":true,"year":2021},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/early-onset-familial-alzheimer-s-disease-eofad-22728850","doi":"10.1017/s0317167100013949","journal":"The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques","n_participants":null,"pmid":"22728850","source_url":"https://pubmed.ncbi.nlm.nih.gov/22728850/","study_design":null,"title":"Early-onset familial Alzheimer's disease (EOFAD)","title_match":true,"year":2012},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/corticobasal-syndrome-in-a-family-with-early-onset-alzheimer-s-30838239","doi":"10.1002/mdc3.12212","journal":"Movement disorders clinical practice","n_participants":null,"pmid":"30838239","source_url":"https://pubmed.ncbi.nlm.nih.gov/30838239/","study_design":null,"title":"Corticobasal Syndrome in a Family with Early-Onset Alzheimer's Disease Linked to a Presenilin-1 Gene Mutation","title_match":true,"year":2015},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/genetics-of-early-onset-alzheimer-dementia-12847300","doi":"10.1100/tsw.2003.39","journal":"TheScientificWorldJournal","n_participants":null,"pmid":"12847300","source_url":"https://pubmed.ncbi.nlm.nih.gov/12847300/","study_design":null,"title":"Genetics of early-onset Alzheimer dementia","title_match":true,"year":2003},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/genetic-analyses-of-early-onset-alzheimer-s-disease-using-next-31182772","doi":"10.1038/s41598-019-44848-2","journal":"Scientific reports","n_participants":67,"pmid":"31182772","source_url":"https://pubmed.ncbi.nlm.nih.gov/31182772/","study_design":null,"title":"Genetic analyses of early-onset Alzheimer's disease using next generation sequencing","title_match":true,"year":2019},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/discovery-and-validation-of-autosomal-dominant-alzheimer-s-disease-30021643","doi":"10.1186/s13195-018-0392-9","journal":"Alzheimer's research & therapy","n_participants":null,"pmid":"30021643","source_url":"https://pubmed.ncbi.nlm.nih.gov/30021643/","study_design":null,"title":"Discovery and validation of autosomal dominant Alzheimer's disease mutations","title_match":true,"year":2018},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/genetic-screening-in-early-onset-alzheimer-s-disease-identified-three-30797548","doi":"10.1016/j.neurobiolaging.2019.01.015","journal":"Neurobiology of aging","n_participants":68,"pmid":"30797548","source_url":"https://pubmed.ncbi.nlm.nih.gov/30797548/","study_design":null,"title":"Genetic screening in early-onset Alzheimer's disease identified three novel presenilin mutations","title_match":true,"year":2020},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/aberrant-splicing-of-psen2-but-not-psen1-in-individuals-with-sporadic-35949106","doi":"10.1093/brain/awac294","journal":"Brain : a journal of neurology","n_participants":null,"pmid":"35949106","source_url":"https://pubmed.ncbi.nlm.nih.gov/35949106/","study_design":null,"title":"Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease","title_match":false,"year":2023},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/psen2-thr421met-mutation-in-a-patient-with-early-onset-alzheimer-s-36362122","doi":"10.3390/ijms232113331","journal":"International journal of molecular sciences","n_participants":null,"pmid":"36362122","source_url":"https://pubmed.ncbi.nlm.nih.gov/36362122/","study_design":null,"title":"PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease","title_match":true,"year":2022},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/screening-for-genetic-mutations-associated-with-early-onset-alzheimer-36306459","doi":"10.2174/1567205020666221028112915","journal":"Current Alzheimer research","n_participants":34,"pmid":"36306459","source_url":"https://pubmed.ncbi.nlm.nih.gov/36306459/","study_design":null,"title":"Screening for Genetic Mutations Associated with Early-Onset Alzheimer's Disease in Han Chinese","title_match":true,"year":2022},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/in-search-of-pathogenic-amyloid-peptide-in-familial-alzheimer-s-31699328","doi":"10.1016/bs.pmbts.2019.07.002","journal":"Progress in molecular biology and translational science","n_participants":null,"pmid":"31699328","source_url":"https://pubmed.ncbi.nlm.nih.gov/31699328/","study_design":null,"title":"In search of pathogenic amyloid \u03b2-peptide in familial Alzheimer's disease","title_match":false,"year":2019},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/early-onset-familial-alzheimer-s-disease-in-a-family-with-mutation-of-33678657","doi":"10.11817/j.issn.1672-7347.2021.190616","journal":"Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences","n_participants":null,"pmid":"33678657","source_url":"https://pubmed.ncbi.nlm.nih.gov/33678657/","study_design":null,"title":"Early-onset familial Alzheimer's disease in a family with mutation of presenilin 2 gene","title_match":true,"year":2021},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/presenilin-gene-mutation-associated-psychosis-phenotypic-38227890","doi":"10.1097/wad.0000000000000599","journal":"Alzheimer disease and associated disorders","n_participants":52,"pmid":"38227890","source_url":"https://pubmed.ncbi.nlm.nih.gov/38227890/","study_design":null,"title":"Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications","title_match":false,"year":2024},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/epileptic-seizures-in-autosomal-dominant-forms-of-alzheimer-s-disease-30041064","doi":"10.1016/j.seizure.2018.07.015","journal":"Seizure","n_participants":null,"pmid":"30041064","source_url":"https://pubmed.ncbi.nlm.nih.gov/30041064/","study_design":null,"title":"Epileptic seizures in autosomal dominant forms of Alzheimer's disease","title_match":false,"year":2018},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/presenilin-1-psen1-mutations-clinical-phenotypes-beyond-alzheimer-s-37176125","doi":"10.3390/ijms24098417","journal":"International journal of molecular sciences","n_participants":null,"pmid":"37176125","source_url":"https://pubmed.ncbi.nlm.nih.gov/37176125/","study_design":null,"title":"Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease","title_match":false,"year":2023},{"alzhub_score":73,"alzhub_url":"https://alzhub.org/study/pathogenic-variants-in-the-longitudinal-early-onset-alzheimer-s-37801072","doi":"10.1002/alz.13482","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":299,"pmid":"37801072","source_url":"https://pubmed.ncbi.nlm.nih.gov/37801072/","study_design":"longitudinal study","title":"Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort","title_match":true,"year":2023},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/a-genetically-modified-minipig-model-for-alzheimer-s-disease-with-36099918","doi":"10.1016/j.xcrm.2022.100740","journal":"Cell reports. Medicine","n_participants":null,"pmid":"36099918","source_url":"https://pubmed.ncbi.nlm.nih.gov/36099918/","study_design":null,"title":"A genetically modified minipig model for Alzheimer's disease with SORL1 haploinsufficiency","title_match":false,"year":2022},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/the-genetics-of-alzheimer-s-disease-in-the-chinese-population-32235595","doi":"10.3390/ijms21072381","journal":"International journal of molecular sciences","n_participants":null,"pmid":"32235595","source_url":"https://pubmed.ncbi.nlm.nih.gov/32235595/","study_design":null,"title":"The Genetics of Alzheimer's Disease in the Chinese Population","title_match":false,"year":2020},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/mutational-analysis-in-early-onset-familial-alzheimer-s-disease-in-24650794","doi":"10.1016/j.neurobiolaging.2014.02.014","journal":"Neurobiology of aging","n_participants":32,"pmid":"24650794","source_url":"https://pubmed.ncbi.nlm.nih.gov/24650794/","study_design":null,"title":"Mutational analysis in early-onset familial Alzheimer's disease in Mainland China","title_match":true,"year":2014},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/early-onset-familial-alzheimer-s-disease-mutation-frequency-in-31-12552037","doi":"10.1212/01.wnl.0000042088.22694.e3","journal":"Neurology","n_participants":null,"pmid":"12552037","source_url":"https://pubmed.ncbi.nlm.nih.gov/12552037/","study_design":null,"title":"Early onset familial Alzheimer's disease: Mutation frequency in 31 families","title_match":true,"year":2003},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/clinical-and-neuroimaging-characterization-of-chinese-dementia-25323700","doi":"10.1159/000366272","journal":"Dementia and geriatric cognitive disorders","n_participants":null,"pmid":"25323700","source_url":"https://pubmed.ncbi.nlm.nih.gov/25323700/","study_design":null,"title":"Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations","title_match":false,"year":2015},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/rare-autosomal-copy-number-variations-in-early-onset-familial-23752245","doi":"10.1038/mp.2013.77","journal":"Molecular psychiatry","n_participants":null,"pmid":"23752245","source_url":"https://pubmed.ncbi.nlm.nih.gov/23752245/","study_design":null,"title":"Rare autosomal copy number variations in early-onset familial Alzheimer's disease","title_match":true,"year":2014},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/incomplete-penetrance-in-familial-alzheimer-s-disease-with-psen1-32328830","doi":"10.1007/s10072-020-04421-6","journal":"Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology","n_participants":null,"pmid":"32328830","source_url":"https://pubmed.ncbi.nlm.nih.gov/32328830/","study_design":null,"title":"Incomplete penetrance in familial Alzheimer's disease with PSEN1 Ala260Gly mutation","title_match":false,"year":2020},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/developing-a-gene-therapy-for-the-treatment-of-autosomal-dominant-37578141","doi":"10.1089/hum.2023.092","journal":"Human gene therapy","n_participants":null,"pmid":"37578141","source_url":"https://pubmed.ncbi.nlm.nih.gov/37578141/","study_design":null,"title":"Developing a Gene Therapy for the Treatment of Autosomal Dominant Alzheimer's Disease","title_match":true,"year":2023},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/identification-of-psen2-mutation-p-n141i-in-argentine-pedigrees-with-26166204","doi":"10.1016/j.neurobiolaging.2015.06.011","journal":"Neurobiology of aging","n_participants":19,"pmid":"26166204","source_url":"https://pubmed.ncbi.nlm.nih.gov/26166204/","study_design":null,"title":"Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease","title_match":true,"year":2015},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/mutations-associated-with-early-onset-alzheimer-s-disease-discovered-27799753","doi":"10.2147/cia.s116218","journal":"Clinical interventions in aging","n_participants":null,"pmid":"27799753","source_url":"https://pubmed.ncbi.nlm.nih.gov/27799753/","study_design":null,"title":"Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries","title_match":true,"year":2016},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/rare-causes-of-early-onset-dystonia-parkinsonism-with-cognitive-28664294","doi":"10.1007/s10048-017-0518-4","journal":"Neurogenetics","n_participants":null,"pmid":"28664294","source_url":"https://pubmed.ncbi.nlm.nih.gov/28664294/","study_design":null,"title":"Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation","title_match":false,"year":2017},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/significance-and-progress-of-dian-a4-api-27025079","doi":null,"journal":"Nihon rinsho. Japanese journal of clinical medicine","n_participants":null,"pmid":"27025079","source_url":"https://pubmed.ncbi.nlm.nih.gov/27025079/","study_design":null,"title":"[Significance and progress of DIAN/A4/API]","title_match":false,"year":2016},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/evaluating-pathogenicity-of-variants-of-unknown-significance-in-app-39875235","doi":"10.1016/j.neurot.2025.e00527","journal":"Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics","n_participants":null,"pmid":"39875235","source_url":"https://pubmed.ncbi.nlm.nih.gov/39875235/","study_design":null,"title":"Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2","title_match":false,"year":2025},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/a-possible-pathogenic-psen2-gly56ser-mutation-in-a-korean-patient-35328387","doi":"10.3390/ijms23062967","journal":"International journal of molecular sciences","n_participants":null,"pmid":"35328387","source_url":"https://pubmed.ncbi.nlm.nih.gov/35328387/","study_design":null,"title":"A Possible Pathogenic PSEN2 Gly56Ser Mutation in a Korean Patient with Early-Onset Alzheimer's Disease","title_match":true,"year":2022},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/a-novel-presenilin-2-gene-mutation-d439a-in-a-patient-with-early-11723295","doi":"10.1212/wnl.57.10.1926","journal":"Neurology","n_participants":null,"pmid":"11723295","source_url":"https://pubmed.ncbi.nlm.nih.gov/11723295/","study_design":null,"title":"A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease","title_match":true,"year":2001},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/a-pathogenic-psen1-trp165cys-mutation-associated-with-early-onset-31391004","doi":"10.1186/s12883-019-1419-y","journal":"BMC neurology","n_participants":null,"pmid":"31391004","source_url":"https://pubmed.ncbi.nlm.nih.gov/31391004/","study_design":null,"title":"A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease","title_match":true,"year":2019},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/comprehensive-screening-for-disease-risk-variants-in-early-onset-28106563","doi":"10.3233/jad-161185","journal":"Journal of Alzheimer's disease : JAD","n_participants":null,"pmid":"28106563","source_url":"https://pubmed.ncbi.nlm.nih.gov/28106563/","study_design":null,"title":"Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants","title_match":true,"year":2017},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/a-pathogenic-psen2-p-his169asn-mutation-associated-with-early-onset-30104866","doi":"10.2147/cia.s170374","journal":"Clinical interventions in aging","n_participants":null,"pmid":"30104866","source_url":"https://pubmed.ncbi.nlm.nih.gov/30104866/","study_design":null,"title":"A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease","title_match":true,"year":2018},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/presenilin-1-and-app-gene-mutations-in-early-onset-ad-families-from-a-32579498","doi":"10.2174/1567205017666200624195809","journal":"Current Alzheimer research","n_participants":67,"pmid":"32579498","source_url":"https://pubmed.ncbi.nlm.nih.gov/32579498/","study_design":null,"title":"Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China","title_match":true,"year":2020},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/what-is-early-onset-dementia-19604328","doi":"10.1111/j.1479-8301.2009.00274.x","journal":"Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society","n_participants":null,"pmid":"19604328","source_url":"https://pubmed.ncbi.nlm.nih.gov/19604328/","study_design":null,"title":"What is 'early onset dementia'?","title_match":true,"year":2009},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/a-novel-psen1-mutation-i238m-associated-with-early-onset-alzheimer-s-24413619","doi":"10.3233/jad-131844","journal":"Journal of Alzheimer's disease : JAD","n_participants":null,"pmid":"24413619","source_url":"https://pubmed.ncbi.nlm.nih.gov/24413619/","study_design":null,"title":"A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman","title_match":true,"year":2014},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/contribution-of-homozygous-and-compound-heterozygous-missense-33023779","doi":"10.1016/j.neurobiolaging.2020.09.009","journal":"Neurobiology of aging","n_participants":1148,"pmid":"33023779","source_url":"https://pubmed.ncbi.nlm.nih.gov/33023779/","study_design":null,"title":"Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease","title_match":false,"year":2021},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/early-onset-familial-alzheimer-s-disease-with-spastic-paraparesis-37994898","doi":"10.17116/jnevro2023123111120","journal":"Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova","n_participants":null,"pmid":"37994898","source_url":"https://pubmed.ncbi.nlm.nih.gov/37994898/","study_design":null,"title":"[Early-onset familial Alzheimer's disease with spastic paraparesis associated with PSEN1 gene]","title_match":true,"year":2023},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/very-early-onset-ad-with-a-de-novo-mutation-in-the-presenilin-1-gene-14581682","doi":"10.1212/01.wnl.0000086811.39675.79","journal":"Neurology","n_participants":null,"pmid":"14581682","source_url":"https://pubmed.ncbi.nlm.nih.gov/14581682/","study_design":null,"title":"Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)","title_match":true,"year":2003},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/novel-psen1-and-pgrn-mutations-in-early-onset-familial-frontotemporal-18314228","doi":"10.1016/j.neurobiolaging.2008.01.005","journal":"Neurobiology of aging","n_participants":17,"pmid":"18314228","source_url":"https://pubmed.ncbi.nlm.nih.gov/18314228/","study_design":null,"title":"Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia","title_match":true,"year":2009},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/single-nucleus-rna-sequencing-demonstrates-an-autosomal-dominant-38417436","doi":"10.1016/j.neuron.2024.02.009","journal":"Neuron","n_participants":null,"pmid":"38417436","source_url":"https://pubmed.ncbi.nlm.nih.gov/38417436/","study_design":null,"title":"Single-nucleus RNA sequencing demonstrates an autosomal dominant Alzheimer's disease profile and possible mechanisms of disease protection","title_match":true,"year":2024},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/osteopontin-drives-neuroinflammation-and-cell-loss-in-mapt-n279k-38626772","doi":"10.1016/j.stem.2024.03.013","journal":"Cell stem cell","n_participants":null,"pmid":"38626772","source_url":"https://pubmed.ncbi.nlm.nih.gov/38626772/","study_design":null,"title":"Osteopontin drives neuroinflammation and cell loss in MAPT-N279K frontotemporal dementia patient neurons","title_match":false,"year":2024},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/epigenetic-age-acceleration-telomere-length-and-neurocognitive-41309628","doi":"10.1038/s41467-025-65664-5","journal":"Nature communications","n_participants":null,"pmid":"41309628","source_url":"https://pubmed.ncbi.nlm.nih.gov/41309628/","study_design":"cross-sectional","title":"Epigenetic age acceleration, telomere length, and neurocognitive function in long-term survivors of childhood cancer","title_match":false,"year":2025},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/multi-omic-atlas-of-the-parahippocampal-gyrus-in-alzheimer-s-disease-37684260","doi":"10.1038/s41597-023-02507-2","journal":"Scientific data","n_participants":null,"pmid":"37684260","source_url":"https://pubmed.ncbi.nlm.nih.gov/37684260/","study_design":null,"title":"Multi-omic atlas of the parahippocampal gyrus in Alzheimer's disease","title_match":false,"year":2023},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/accelerated-epigenetic-aging-in-newborns-with-down-syndrome-35661546","doi":"10.1111/acel.13652","journal":"Aging cell","n_participants":null,"pmid":"35661546","source_url":"https://pubmed.ncbi.nlm.nih.gov/35661546/","study_design":null,"title":"Accelerated epigenetic aging in newborns with Down syndrome","title_match":false,"year":2022},{"alzhub_score":64,"alzhub_url":"https://alzhub.org/study/tau-accumulation-in-autosomal-dominant-alzheimer-s-disease-a-37231491","doi":"10.1186/s13195-023-01234-5","journal":"Alzheimer's research & therapy","n_participants":59,"pmid":"37231491","source_url":"https://pubmed.ncbi.nlm.nih.gov/37231491/","study_design":"cohort study","title":"Tau accumulation in autosomal dominant Alzheimer's disease: a longitudinal [18F]flortaucipir study","title_match":true,"year":2023},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/detection-of-tau-in-gerstmann-straussler-scheinker-disease-prnp-f198s-30373672","doi":"10.1186/s40478-018-0608-z","journal":"Acta neuropathologica communications","n_participants":null,"pmid":"30373672","source_url":"https://pubmed.ncbi.nlm.nih.gov/30373672/","study_design":null,"title":"Detection of tau in Gerstmann-Str\u00e4ussler-Scheinker disease (PRNP F198S) by [18F]Flortaucipir PET","title_match":false,"year":2018},{"alzhub_score":49,"alzhub_url":"https://alzhub.org/study/diagnostic-impact-of-18f-flutemetamol-pet-in-early-onset-dementia-28093088","doi":"10.1186/s13195-016-0228-4","journal":"Alzheimer's research & therapy","n_participants":211,"pmid":"28093088","source_url":"https://pubmed.ncbi.nlm.nih.gov/28093088/","study_design":null,"title":"Diagnostic impact of [18F]flutemetamol PET in early-onset dementia","title_match":true,"year":2017},{"alzhub_score":61,"alzhub_url":"https://alzhub.org/study/modeling-autosomal-dominant-alzheimer-s-disease-with-machine-learning-33480178","doi":"10.1002/alz.12259","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"33480178","source_url":"https://pubmed.ncbi.nlm.nih.gov/33480178/","study_design":"longitudinal study","title":"Modeling autosomal dominant Alzheimer's disease with machine learning","title_match":true,"year":2021},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/functional-connectivity-of-the-hippocampus-in-early-and-vs-late-onset-29057631","doi":"10.3988/jcn.2017.13.4.387","journal":"Journal of clinical neurology (Seoul, Korea)","n_participants":13,"pmid":"29057631","source_url":"https://pubmed.ncbi.nlm.nih.gov/29057631/","study_design":null,"title":"Functional Connectivity of the Hippocampus in Early- and vs. Late-Onset Alzheimer's Disease","title_match":false,"year":2017},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/high-resolution-functional-connectivity-of-the-default-mode-network-33070299","doi":"10.1007/s11682-020-00399-z","journal":"Brain imaging and behavior","n_participants":null,"pmid":"33070299","source_url":"https://pubmed.ncbi.nlm.nih.gov/33070299/","study_design":null,"title":"High-resolution functional connectivity of the default mode network in young adults with down syndrome","title_match":false,"year":2021},{"alzhub_score":58,"alzhub_url":"https://alzhub.org/study/disease-specific-and-nonspecific-metabolic-brain-networks-in-36334269","doi":"10.1002/hbm.26140","journal":"Human brain mapping","n_participants":null,"pmid":"36334269","source_url":"https://pubmed.ncbi.nlm.nih.gov/36334269/","study_design":"longitudinal study","title":"Disease specific and nonspecific metabolic brain networks in behavioral variant of frontotemporal dementia","title_match":false,"year":2023},{"alzhub_score":59,"alzhub_url":"https://alzhub.org/study/early-detection-of-dementia-through-retinal-imaging-and-trustworthy-ai-39428420","doi":"10.1038/s41746-024-01292-5","journal":"NPJ digital medicine","n_participants":1671,"pmid":"39428420","source_url":"https://pubmed.ncbi.nlm.nih.gov/39428420/","study_design":null,"title":"Early detection of dementia through retinal imaging and trustworthy AI","title_match":false,"year":2024},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/optical-coherence-tomography-reveals-light-dependent-retinal-32512126","doi":"10.1016/j.neuroimage.2020.117022","journal":"NeuroImage","n_participants":null,"pmid":"32512126","source_url":"https://pubmed.ncbi.nlm.nih.gov/32512126/","study_design":null,"title":"Optical coherence tomography reveals light-dependent retinal responses in Alzheimer's disease","title_match":false,"year":2020},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/past-present-and-future-role-of-retinal-imaging-in-neurodegenerative-33460813","doi":"10.1016/j.preteyeres.2020.100938","journal":"Progress in retinal and eye research","n_participants":null,"pmid":"33460813","source_url":"https://pubmed.ncbi.nlm.nih.gov/33460813/","study_design":null,"title":"Past, present and future role of retinal imaging in neurodegenerative disease","title_match":false,"year":2021},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/can-anti-amyloid-monoclonal-antibodies-work-in-autosomal-dominant-33575481","doi":"10.1212/nxg.0000000000000535","journal":"Neurology. Genetics","n_participants":144,"pmid":"33575481","source_url":"https://pubmed.ncbi.nlm.nih.gov/33575481/","study_design":null,"title":"Can Anti-\u03b2-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?","title_match":true,"year":2021},{"alzhub_score":79,"alzhub_url":"https://alzhub.org/study/inflammatory-proteins-associated-with-alzheimer-s-disease-reduced-by-39358806","doi":"10.1186/s13195-024-01573-x","journal":"Alzheimer's research & therapy","n_participants":13752,"pmid":"39358806","source_url":"https://pubmed.ncbi.nlm.nih.gov/39358806/","study_design":null,"title":"Inflammatory proteins associated with Alzheimer's disease reduced by a GLP1 receptor agonist: a post hoc analysis of the EXSCEL randomized placebo controlled trial","title_match":false,"year":2024},{"alzhub_score":86,"alzhub_url":"https://alzhub.org/study/safety-and-efficacy-of-crenezumab-in-cognitively-unimpaired-carriers-41579901","doi":"10.1016/s1474-4422(25)00426-0","journal":"The Lancet. Neurology","n_participants":85,"pmid":"41579901","source_url":"https://pubmed.ncbi.nlm.nih.gov/41579901/","study_design":null,"title":"Safety and efficacy of crenezumab in cognitively unimpaired carriers of the PSEN1Glu280Ala mutation at risk for autosomal-dominant Alzheimer's disease in Colombia (API ADAD Colombia Trial): a phase 2, randomised, double-blind, placebo-controlled trial","title_match":true,"year":2026},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/sorting-out-the-role-of-the-sortilin-related-receptor-1-in-alzheimer-32587946","doi":"10.3233/adr-200177","journal":"Journal of Alzheimer's disease reports","n_participants":null,"pmid":"32587946","source_url":"https://pubmed.ncbi.nlm.nih.gov/32587946/","study_design":null,"title":"Sorting Out the Role of the Sortilin-Related Receptor 1 in Alzheimer's Disease","title_match":false,"year":2020},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/the-effects-of-aerobic-exercise-in-patients-with-early-onset-dementia-33957623","doi":"10.1159/000516231","journal":"Dementia and geriatric cognitive disorders","n_participants":null,"pmid":"33957623","source_url":"https://pubmed.ncbi.nlm.nih.gov/33957623/","study_design":null,"title":"The Effects of Aerobic Exercise in Patients with Early-Onset Dementia: A Scoping Review","title_match":true,"year":2021},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/role-of-diet-and-exercise-in-aging-alzheimer-s-disease-and-other-37832608","doi":"10.1016/j.arr.2023.102091","journal":"Ageing research reviews","n_participants":null,"pmid":"37832608","source_url":"https://pubmed.ncbi.nlm.nih.gov/37832608/","study_design":null,"title":"Role of diet and exercise in aging, Alzheimer's disease, and other chronic diseases","title_match":false,"year":2023},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/outdoor-nighttime-light-exposure-light-pollution-is-associated-with-38405987","doi":"10.1101/2024.02.14.24302831","journal":"Frontiers in neuroscience","n_participants":null,"pmid":"38405987","source_url":"https://pubmed.ncbi.nlm.nih.gov/38405987/","study_design":null,"title":"Outdoor Nighttime Light Exposure (Light Pollution) is Associated with Alzheimer's Disease","title_match":false,"year":2024},{"alzhub_score":57,"alzhub_url":"https://alzhub.org/study/environmental-factors-and-risk-of-early-onset-dementia-a-population-41379750","doi":"10.1159/000549445","journal":"Neuroepidemiology","n_participants":null,"pmid":"41379750","source_url":"https://pubmed.ncbi.nlm.nih.gov/41379750/","study_design":"case-control study","title":"Environmental Factors and Risk of Early-Onset Dementia: A Population-Based Case-Control Study","title_match":true,"year":2025},{"alzhub_score":46,"alzhub_url":"https://alzhub.org/study/dietary-habits-and-risk-of-early-onset-dementia-in-an-italian-case-33260315","doi":"10.3390/nu12123682","journal":"Nutrients","n_participants":54,"pmid":"33260315","source_url":"https://pubmed.ncbi.nlm.nih.gov/33260315/","study_design":null,"title":"Dietary Habits and Risk of Early-Onset Dementia in an Italian Case-Control Study","title_match":true,"year":2020},{"alzhub_score":54,"alzhub_url":"https://alzhub.org/study/synuclein-seed-amplification-assay-detects-lewy-body-co-pathology-in-38666355","doi":"10.1002/alz.13818","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":26,"pmid":"38666355","source_url":"https://pubmed.ncbi.nlm.nih.gov/38666355/","study_design":null,"title":"\u03b1-Synuclein seed amplification assay detects Lewy body co-pathology in autosomal dominant Alzheimer's disease late in the disease course and dependent on Lewy pathology burden","title_match":true,"year":2024},{"alzhub_score":39,"alzhub_url":"https://alzhub.org/study/clinical-nurse-specialist-s-role-in-young-onset-dementia-care-33275505","doi":"10.12968/bjcn.2020.25.12.604","journal":"British journal of community nursing","n_participants":null,"pmid":"33275505","source_url":"https://pubmed.ncbi.nlm.nih.gov/33275505/","study_design":null,"title":"Clinical nurse specialist's role in young-onset dementia care","title_match":true,"year":2020},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/cannabidiol-for-chronic-neuroinflammation-clinical-pharmacology-and-f55806d2","doi":"10.22541/authorea.15009897/v1","journal":"Authorea Preprints","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.22541/authorea.15009897/v1","study_design":"narrative review","title":"Cannabidiol for chronic neuroinflammation: clinical pharmacology and what an interpretable trial will require","title_match":false,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/plasma-biomarker-profiles-in-a-colombian-cohort-of-heterozygous-apoe3-6c38e2c0","doi":"10.21203/rs.3.rs-10705602/v1","journal":"Research Square","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.21203/rs.3.rs-10705602/v1","study_design":"cross-sectional","title":"Plasma Biomarker Profiles in a Colombian Cohort of Heterozygous APOE3-Christchurch Carriers","title_match":false,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/large-scale-cerebrospinal-fluid-proteomics-identifies-diagnostic-b2999acb","doi":"10.64898/2026.09.29.755483","journal":"bioRxiv","n_participants":566,"pmid":null,"source_url":"https://doi.org/10.64898/2026.09.29.755483","study_design":null,"title":"Large-scale cerebrospinal fluid proteomics identifies diagnostic biomarker candidates across the clinico-pathological continuum of frontotemporal lobar degeneration","title_match":false,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/too-early-for-late-age-at-onset-is-associated-with-the-clinical-and-9b371049","doi":"10.64898/2026.10.15.26365384","journal":"medRxiv","n_participants":196,"pmid":null,"source_url":"https://doi.org/10.64898/2026.10.15.26365384","study_design":null,"title":"Too early for LATE? Age at onset is associated with the clinical and neuroimaging expression of limbic-predominant age- related TDP-43 pathology in Alzheimer\u2019s disease","title_match":false,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/person-centred-care-in-the-early-post-diagnostic-phase-of-young-onset-76f5166c","doi":"10.21203/rs.3.rs-10915497/v1","journal":"Research Square","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.21203/rs.3.rs-10915497/v1","study_design":null,"title":"Person-centred care in the early post-diagnostic phase of young-onset dementia: co-created insights from service users and professionals through participatory action research","title_match":true,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/navigating-young-onset-dementia-caregiving-a-qualitative-study-of-0bed91a8","doi":"10.21203/rs.3.rs-10249782/v1","journal":"Research Square","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.21203/rs.3.rs-10249782/v1","study_design":null,"title":"Navigating young-onset dementia caregiving: A qualitative study of unmet needs, support, and resilience","title_match":true,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/prevalence-of-epilepsy-and-young-onset-dementia-in-adults-with-1135530e","doi":"10.31234/osf.io/647m3_v2","journal":"PsyArXiv","n_participants":847430,"pmid":null,"source_url":"https://doi.org/10.31234/osf.io/647m3_v2","study_design":"cross-sectional","title":"Prevalence of epilepsy and young-onset dementia in adults with intellectual disability: Contrasting Down syndrome and autism diagnoses","title_match":true,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/assessing-the-risk-of-early-onset-dementia-within-5-years-of-cancer-294a2b0f","doi":"10.64898/2026.02.12.26346204","journal":"medRxiv","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.64898/2026.02.12.26346204","study_design":"longitudinal study","title":"Assessing the risk of early-onset dementia within 5 years of cancer diagnosis","title_match":true,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/cerebrospinal-fluid-ywhag-nptx2-ratio-predicts-clinical-severity-and-4579e717","doi":"10.64898/2026.08.22.746470","journal":"bioRxiv","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.64898/2026.08.22.746470","study_design":null,"title":"Cerebrospinal fluid YWHAG:NPTX2 ratio predicts clinical severity and future phenoconversion in frontotemporal lobar degeneration","title_match":false,"year":2026},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/the-amyloid-plaque-proteomes-of-alzheimers-disease-and-mild-cognitive-e4a188be","doi":"10.21203/rs.3.rs-9012095/v1","journal":"Research Square","n_participants":240,"pmid":null,"source_url":"https://doi.org/10.21203/rs.3.rs-9012095/v1","study_design":null,"title":"The Amyloid Plaque Proteomes of Alzheimer\u2019s Disease and Mild Cognitive Impairment","title_match":false,"year":2026},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/apolipoprotein-e-abundance-is-elevated-in-the-brains-of-individuals-39d43f22","doi":"10.1101/2025.02.24.639862","journal":"Acta neuropathologica","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.1101/2025.02.24.639862","study_design":null,"title":"Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome-Alzheimer\u2019s disease","title_match":false,"year":2025},{"alzhub_score":16,"alzhub_url":"https://alzhub.org/study/tissue-and-compartment-resolved-brain-age-reveals-vascular-metabolic-be334a05","doi":"10.21203/rs.3.rs-10808325/v1","journal":"Research Square","n_participants":null,"pmid":null,"source_url":"https://doi.org/10.21203/rs.3.rs-10808325/v1","study_design":null,"title":"Tissue- and compartment-resolved brain age reveals vascular-metabolic and neurodegenerative aging","title_match":false,"year":2026},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/aberrant-ipsc-derived-human-astrocytes-in-alzheimer-s-disease-28333144","doi":"10.1038/cddis.2017.89","journal":"Cell Death and Disease","n_participants":null,"pmid":"28333144","source_url":"https://pubmed.ncbi.nlm.nih.gov/28333144/","study_design":null,"title":"Aberrant iPSC-derived human astrocytes in Alzheimer's disease","title_match":false,"year":2017},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/apolipoprotein-e-4-allele-as-a-major-risk-factor-for-sporadic-early-8069300","doi":"10.1093/hmg/3.4.569","journal":"Human Molecular Genetics","n_participants":36,"pmid":"8069300","source_url":"https://pubmed.ncbi.nlm.nih.gov/8069300/","study_design":null,"title":"Apolipoprotein E, \u025b4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region","title_match":false,"year":1994},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/a-familial-alzheimer-s-disease-locus-on-chromosome-1-7638621","doi":"10.1126/science.7638621","journal":"Science","n_participants":null,"pmid":"7638621","source_url":"https://pubmed.ncbi.nlm.nih.gov/7638621/","study_design":null,"title":"A Familial Alzheimer's Disease Locus on Chromosome 1","title_match":false,"year":1995},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/synuclein-membrane-interactions-and-lipid-specificity-10915790","doi":"10.1074/jbc.m004345200","journal":"Journal of Biological Chemistry","n_participants":null,"pmid":"10915790","source_url":"https://pubmed.ncbi.nlm.nih.gov/10915790/","study_design":null,"title":"\u03b1-Synuclein Membrane Interactions and Lipid Specificity","title_match":false,"year":2000},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/modeling-familial-alzheimer-s-disease-with-induced-pluripotent-stem-21900357","doi":"10.1093/hmg/ddr394","journal":"Human Molecular Genetics","n_participants":null,"pmid":"21900357","source_url":"https://pubmed.ncbi.nlm.nih.gov/21900357/","study_design":null,"title":"Modeling familial Alzheimer's disease with induced pluripotent stem cells","title_match":false,"year":2011},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/epidemiology-of-early-onset-dementia-a-review-of-the-literature-23878613","doi":"10.2174/1745017901309010088","journal":"Clinical Practice and Epidemiology in Mental Health","n_participants":null,"pmid":"23878613","source_url":"https://pubmed.ncbi.nlm.nih.gov/23878613/","study_design":null,"title":"Epidemiology of early-onset dementia: a review of the literature","title_match":true,"year":2013},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/galectin-3-is-elevated-in-csf-and-is-associated-with-a-deposits-and-35895141","doi":"10.1007/s00401-022-02469-6","journal":"Acta neuropathologica","n_participants":119,"pmid":"35895141","source_url":"https://pubmed.ncbi.nlm.nih.gov/35895141/","study_design":null,"title":"Galectin-3 is elevated in CSF and is associated with A\u03b2 deposits and tau aggregates in brain tissue in Alzheimer's disease","title_match":false,"year":2022},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/biochemical-neuropathological-and-neuroimaging-characteristics-of-21094210","doi":"10.1016/j.neulet.2010.10.039","journal":"Neuroscience letters","n_participants":null,"pmid":"21094210","source_url":"https://pubmed.ncbi.nlm.nih.gov/21094210/","study_design":null,"title":"Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation","title_match":true,"year":2011},{"alzhub_score":50,"alzhub_url":"https://alzhub.org/study/sex-differences-in-blood-biomarkers-and-cognitive-performance-in-37279390","doi":"10.1002/alz.13314","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"37279390","source_url":"https://pubmed.ncbi.nlm.nih.gov/37279390/","study_design":"cross-sectional","title":"Sex differences in blood biomarkers and cognitive performance in individuals with autosomal dominant Alzheimer's disease","title_match":true,"year":2023},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/the-coarse-grained-plaque-a-divergent-a-plaque-type-in-early-onset-32926214","doi":"10.1007/s00401-020-02198-8","journal":"Acta neuropathologica","n_participants":74,"pmid":"32926214","source_url":"https://pubmed.ncbi.nlm.nih.gov/32926214/","study_design":null,"title":"The coarse-grained plaque: a divergent A\u03b2 plaque-type in early-onset Alzheimer's disease","title_match":true,"year":2020},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/pharmacological-inhibition-of-g9a-glp-restores-cognition-and-reduces-31804189","doi":"10.18632/aging.102558","journal":"Aging","n_participants":null,"pmid":"31804189","source_url":"https://pubmed.ncbi.nlm.nih.gov/31804189/","study_design":null,"title":"Pharmacological inhibition of G9a/GLP restores cognition and reduces oxidative stress, neuroinflammation and \u03b2-Amyloid plaques in an early-onset Alzheimer's disease mouse model","title_match":true,"year":2019},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/the-coexistence-of-an-equal-amount-of-alzheimer-s-amyloid-40-and-42-24720730","doi":"10.1111/febs.12813","journal":"The FEBS journal","n_participants":null,"pmid":"24720730","source_url":"https://pubmed.ncbi.nlm.nih.gov/24720730/","study_design":null,"title":"The coexistence of an equal amount of Alzheimer's amyloid-\u03b2 40 and 42 forms structurally stable and toxic oligomers through a distinct pathway","title_match":false,"year":2014},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/a-novel-presenilin-1-mutation-leu85pro-in-early-onset-alzheimer-15534188","doi":"10.1001/archneur.61.11.1773","journal":"Archives of neurology","n_participants":null,"pmid":"15534188","source_url":"https://pubmed.ncbi.nlm.nih.gov/15534188/","study_design":null,"title":"A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis","title_match":true,"year":2004},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/genome-editing-applications-of-crispr-cas9-to-promote-in-vitro-29445268","doi":"10.2147/cia.s155145","journal":"Clinical interventions in aging","n_participants":null,"pmid":"29445268","source_url":"https://pubmed.ncbi.nlm.nih.gov/29445268/","study_design":null,"title":"Genome-editing applications of CRISPR-Cas9 to promote in vitro studies of Alzheimer's disease","title_match":false,"year":2018},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/a42-a40-ratios-of-presenilin-1-mutations-correlate-with-clinical-30412504","doi":"10.3233/jad-180829","journal":"Journal of Alzheimer's disease : JAD","n_participants":null,"pmid":"30412504","source_url":"https://pubmed.ncbi.nlm.nih.gov/30412504/","study_design":null,"title":"A\u03b242/A\u03b240 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease","title_match":false,"year":2018},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/autosomal-dominant-alzheimer-s-disease-mutations-at-the-same-codon-of-24117942","doi":"10.1111/jnc.12466","journal":"Journal of neurochemistry","n_participants":null,"pmid":"24117942","source_url":"https://pubmed.ncbi.nlm.nih.gov/24117942/","study_design":null,"title":"Autosomal-dominant Alzheimer's disease mutations at the same codon of amyloid precursor protein differentially alter A\u03b2 production","title_match":true,"year":2014},{"alzhub_score":60,"alzhub_url":"https://alzhub.org/study/amyloid-pathogenesis-chemical-properties-versus-cellular-levels-26225732","doi":"10.1016/j.jalz.2015.06.1895","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"26225732","source_url":"https://pubmed.ncbi.nlm.nih.gov/26225732/","study_design":null,"title":"\u03b2-Amyloid pathogenesis: Chemical properties versus cellular levels","title_match":false,"year":2016},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/novel-presenilin-1-and-2-double-knock-out-cell-line-for-in-vitro-32032730","doi":"10.1016/j.nbd.2020.104785","journal":"Neurobiology of disease","n_participants":null,"pmid":"32032730","source_url":"https://pubmed.ncbi.nlm.nih.gov/32032730/","study_design":null,"title":"Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations","title_match":false,"year":2020},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/alzheimer-s-polygenic-risk-scores-are-associated-with-cognitive-37855447","doi":"10.1002/alz.13506","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"37855447","source_url":"https://pubmed.ncbi.nlm.nih.gov/37855447/","study_design":null,"title":"Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome","title_match":false,"year":2024},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/a-novel-psen1-m139l-mutation-found-in-a-chinese-pedigree-with-early-30958370","doi":"10.3233/jad-181291","journal":"Journal of Alzheimer's disease : JAD","n_participants":null,"pmid":"30958370","source_url":"https://pubmed.ncbi.nlm.nih.gov/30958370/","study_design":null,"title":"A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases A\u03b242/A\u03b240 ratio","title_match":true,"year":2019},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/a-novel-presenilin-2-mutation-v393m-in-early-onset-dementia-with-18727676","doi":"10.1111/j.1468-1331.2008.02256.x","journal":"European journal of neurology","n_participants":null,"pmid":"18727676","source_url":"https://pubmed.ncbi.nlm.nih.gov/18727676/","study_design":null,"title":"A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment","title_match":true,"year":2008},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/cell-free-dna-as-peripheral-biomarker-of-alzheimer-s-disease-38607732","doi":"10.14336/ad.2024.0329","journal":"Aging and disease","n_participants":null,"pmid":"38607732","source_url":"https://pubmed.ncbi.nlm.nih.gov/38607732/","study_design":null,"title":"Cell-Free DNA As Peripheral Biomarker of Alzheimer's Disease","title_match":false,"year":2024},{"alzhub_score":43,"alzhub_url":"https://alzhub.org/study/a-public-resource-of-baseline-data-from-the-alzheimer-s-prevention-36373344","doi":"10.1002/alz.12843","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"36373344","source_url":"https://pubmed.ncbi.nlm.nih.gov/36373344/","study_design":null,"title":"A public resource of baseline data from the Alzheimer's Prevention Initiative Autosomal-Dominant Alzheimer's Disease Trial","title_match":true,"year":2023},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/blood-biomarker-profiles-in-young-onset-neurocognitive-disorders-a-39825484","doi":"10.1177/00048674241312805","journal":"The Australian and New Zealand journal of psychiatry","n_participants":18,"pmid":"39825484","source_url":"https://pubmed.ncbi.nlm.nih.gov/39825484/","study_design":null,"title":"Blood biomarker profiles in young-onset neurocognitive disorders: A cohort study","title_match":false,"year":2025},{"alzhub_score":66,"alzhub_url":"https://alzhub.org/study/sex-differences-in-cognitive-abilities-among-children-with-the-34463747","doi":"10.1001/jamanetworkopen.2021.21697","journal":"JAMA network open","n_participants":null,"pmid":"34463747","source_url":"https://pubmed.ncbi.nlm.nih.gov/34463747/","study_design":"cohort study","title":"Sex Differences in Cognitive Abilities Among Children With the Autosomal Dominant Alzheimer Disease Presenilin 1 E280A Variant From a Colombian Cohort","title_match":true,"year":2021},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/alzheimer-s-prevention-initiative-a-plan-to-accelerate-the-evaluation-21971471","doi":"10.3233/jad-2011-0059","journal":"Journal of Alzheimer's disease : JAD","n_participants":null,"pmid":"21971471","source_url":"https://pubmed.ncbi.nlm.nih.gov/21971471/","study_design":null,"title":"Alzheimer's Prevention Initiative: a plan to accelerate the evaluation of presymptomatic treatments","title_match":false,"year":2011},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/consensus-report-of-the-working-group-on-molecular-and-biochemical-9558143","doi":null,"journal":"Neurobiology of aging","n_participants":null,"pmid":"9558143","source_url":"https://pubmed.ncbi.nlm.nih.gov/9558143/","study_design":null,"title":"Consensus report of the Working Group on: \"Molecular and Biochemical Markers of Alzheimer's Disease\". The Ronald and Nancy Reagan Research Institute of the Alzheimer's Association and the National Institute on Aging Working Group","title_match":false,"year":1998},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/cerebrospinal-fluid-proteomics-define-the-natural-history-of-37550416","doi":"10.1038/s41591-023-02476-4","journal":"Nature medicine","n_participants":null,"pmid":"37550416","source_url":"https://pubmed.ncbi.nlm.nih.gov/37550416/","study_design":null,"title":"Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer's disease","title_match":true,"year":2023},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/role-of-the-beta-amyloid-protein-in-alzheimer-s-disease-7896005","doi":"10.1096/fasebj.9.5.7896005","journal":"FASEB journal : official publication of the Federation of American Societies for Experimental Biology","n_participants":null,"pmid":"7896005","source_url":"https://pubmed.ncbi.nlm.nih.gov/7896005/","study_design":null,"title":"Role of the beta-amyloid protein in Alzheimer's disease","title_match":false,"year":1995},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/neurotechnology-and-ai-approach-for-early-dementia-onset-biomarker-34892639","doi":"10.1109/embc46164.2021.9630736","journal":"Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference","n_participants":null,"pmid":"34892639","source_url":"https://pubmed.ncbi.nlm.nih.gov/34892639/","study_design":null,"title":"Neurotechnology and AI Approach for Early Dementia Onset Biomarker from EEG in Emotional Stimulus Evaluation Task","title_match":false,"year":2021},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/the-mapp-room-memory-test-examining-contextual-memory-using-a-novel-38374753","doi":"10.14283/jpad.2024.7","journal":"The journal of prevention of Alzheimer's disease","n_participants":15,"pmid":"38374753","source_url":"https://pubmed.ncbi.nlm.nih.gov/38374753/","study_design":null,"title":"The MAPP Room Memory Test: Examining Contextual Memory Using a Novel Computerized Test in Cognitively-Unimpaired Individuals with Autosomal Dominant Alzheimer's Disease","title_match":true,"year":2024},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/risk-factors-for-alzheimer-s-disease-31556570","doi":"10.5114/fn.2019.85929","journal":"Folia neuropathologica","n_participants":null,"pmid":"31556570","source_url":"https://pubmed.ncbi.nlm.nih.gov/31556570/","study_design":null,"title":"Risk factors for Alzheimer's disease","title_match":false,"year":2019},{"alzhub_score":66,"alzhub_url":"https://alzhub.org/study/evidence-for-human-transmission-of-amyloid-pathology-and-cerebral-26354483","doi":"10.1038/nature15369","journal":"Nature","n_participants":116,"pmid":"26354483","source_url":"https://pubmed.ncbi.nlm.nih.gov/26354483/","study_design":"cohort study","title":"Evidence for human transmission of amyloid-\u03b2 pathology and cerebral amyloid angiopathy","title_match":false,"year":2015},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/amyloid-precursor-protein-regulates-brain-apolipoprotein-e-and-17920016","doi":"10.1016/j.neuron.2007.08.008","journal":"Neuron","n_participants":null,"pmid":"17920016","source_url":"https://pubmed.ncbi.nlm.nih.gov/17920016/","study_design":null,"title":"Amyloid precursor protein regulates brain apolipoprotein E and cholesterol metabolism through lipoprotein receptor LRP1","title_match":false,"year":2007},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/alzheimer-s-disease-pathogenesis-and-therapeutic-interventions-15177383","doi":"10.1016/j.jocn.2003.12.007","journal":"Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia","n_participants":null,"pmid":"15177383","source_url":"https://pubmed.ncbi.nlm.nih.gov/15177383/","study_design":null,"title":"Alzheimer's disease pathogenesis and therapeutic interventions","title_match":false,"year":2004},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/early-onset-versus-late-onset-alzheimer-s-disease-the-case-of-the-21185234","doi":"10.1016/s1474-4422(10)70306-9","journal":"The Lancet. Neurology","n_participants":null,"pmid":"21185234","source_url":"https://pubmed.ncbi.nlm.nih.gov/21185234/","study_design":null,"title":"Early-onset versus late-onset Alzheimer's disease: the case of the missing APOE \u025b4 allele","title_match":false,"year":2011},{"alzhub_score":66,"alzhub_url":"https://alzhub.org/study/smoking-is-associated-with-an-increased-risk-of-dementia-a-meta-25763939","doi":"10.1371/journal.pone.0118333","journal":"PloS one","n_participants":null,"pmid":"25763939","source_url":"https://pubmed.ncbi.nlm.nih.gov/25763939/","study_design":null,"title":"Smoking is associated with an increased risk of dementia: a meta-analysis of prospective cohort studies with investigation of potential effect modifiers","title_match":false,"year":2015},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/monoaminergic-neuropathology-in-alzheimer-s-disease-27084356","doi":"10.1016/j.pneurobio.2016.04.001","journal":"Progress in neurobiology","n_participants":null,"pmid":"27084356","source_url":"https://pubmed.ncbi.nlm.nih.gov/27084356/","study_design":null,"title":"Monoaminergic neuropathology in Alzheimer's disease","title_match":false,"year":2017},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/polygenic-risk-score-of-sporadic-late-onset-alzheimer-s-disease-28943286","doi":"10.1016/j.jalz.2017.08.013","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"28943286","source_url":"https://pubmed.ncbi.nlm.nih.gov/28943286/","study_design":null,"title":"Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms","title_match":false,"year":2018},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/genome-wide-screen-identifies-rs646776-near-sortilin-as-a-regulator-21087763","doi":"10.1016/j.ajhg.2010.11.002","journal":"American journal of human genetics","n_participants":null,"pmid":"21087763","source_url":"https://pubmed.ncbi.nlm.nih.gov/21087763/","study_design":null,"title":"Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma","title_match":false,"year":2010},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/tmem106b-p-t185s-regulates-tmem106b-protein-levels-implications-for-23742080","doi":"10.1111/jnc.12329","journal":"Journal of neurochemistry","n_participants":null,"pmid":"23742080","source_url":"https://pubmed.ncbi.nlm.nih.gov/23742080/","study_design":null,"title":"TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia","title_match":false,"year":2013},{"alzhub_score":86,"alzhub_url":"https://alzhub.org/study/rare-mutations-in-sqstm1-modify-susceptibility-to-frontotemporal-24899140","doi":"10.1007/s00401-014-1298-7","journal":"Acta neuropathologica","n_participants":3899,"pmid":"24899140","source_url":"https://pubmed.ncbi.nlm.nih.gov/24899140/","study_design":"meta-analysis","title":"Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration","title_match":false,"year":2014},{"alzhub_score":81,"alzhub_url":"https://alzhub.org/study/family-based-association-analyses-of-imputed-genotypes-reveal-genome-26830138","doi":"10.1038/mp.2015.218","journal":"Molecular psychiatry","n_participants":3500,"pmid":"26830138","source_url":"https://pubmed.ncbi.nlm.nih.gov/26830138/","study_design":"meta-analysis","title":"Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3","title_match":false,"year":2016},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/quantitative-interaction-proteomics-of-neurodegenerative-disease-25959826","doi":"10.1016/j.celrep.2015.04.030","journal":"Cell reports","n_participants":null,"pmid":"25959826","source_url":"https://pubmed.ncbi.nlm.nih.gov/25959826/","study_design":null,"title":"Quantitative interaction proteomics of neurodegenerative disease proteins","title_match":false,"year":2015},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/pooled-dna-sequencing-identifies-novel-causative-variants-in-psen1-22906081","doi":"10.1186/alzrt137","journal":"Alzheimer's research & therapy","n_participants":null,"pmid":"22906081","source_url":"https://pubmed.ncbi.nlm.nih.gov/22906081/","study_design":null,"title":"Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort","title_match":false,"year":2012},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/screening-of-dementia-genes-by-whole-exome-sequencing-in-early-onset-26242991","doi":"10.1038/ejhg.2015.173","journal":"European journal of human genetics : EJHG","n_participants":264,"pmid":"26242991","source_url":"https://pubmed.ncbi.nlm.nih.gov/26242991/","study_design":null,"title":"Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons","title_match":true,"year":2016},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/mutations-in-mme-cause-an-autosomal-recessive-charcot-marie-tooth-26991897","doi":"10.1002/ana.24612","journal":"Annals of neurology","n_participants":303,"pmid":"26991897","source_url":"https://pubmed.ncbi.nlm.nih.gov/26991897/","study_design":null,"title":"Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2","title_match":false,"year":2016},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/lt-i-gt-complement-c7-lt-i-gt-is-a-novel-risk-gene-for-alzheimer-s-31032141","doi":"10.1093/nsr/nwy127","journal":"National science review","n_participants":null,"pmid":"31032141","source_url":"https://pubmed.ncbi.nlm.nih.gov/31032141/","study_design":null,"title":"Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese","title_match":false,"year":2019},{"alzhub_score":45,"alzhub_url":"https://alzhub.org/study/exome-sequencing-reveals-an-unexpected-genetic-cause-of-disease-22153900","doi":"10.1016/j.neurobiolaging.2011.10.009","journal":"Neurobiology of aging","n_participants":null,"pmid":"22153900","source_url":"https://pubmed.ncbi.nlm.nih.gov/22153900/","study_design":null,"title":"Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease","title_match":false,"year":2012},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/i-sorl1-i-mutations-in-early-and-late-onset-alzheimer-disease-27822510","doi":"10.1212/nxg.0000000000000116","journal":"Neurology. Genetics","n_participants":null,"pmid":"27822510","source_url":"https://pubmed.ncbi.nlm.nih.gov/27822510/","study_design":null,"title":"SORL1 mutations in early- and late-onset Alzheimer disease","title_match":false,"year":2016},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/deleterious-abca7-mutations-and-transcript-rescue-mechanisms-in-early-28447221","doi":"10.1007/s00401-017-1714-x","journal":"Acta neuropathologica","n_participants":null,"pmid":"28447221","source_url":"https://pubmed.ncbi.nlm.nih.gov/28447221/","study_design":null,"title":"Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease","title_match":true,"year":2017},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/increased-expression-of-the-frontotemporal-dementia-risk-factor-27126638","doi":"10.1093/hmg/ddw127","journal":"Human molecular genetics","n_participants":null,"pmid":"27126638","source_url":"https://pubmed.ncbi.nlm.nih.gov/27126638/","study_design":null,"title":"Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomes","title_match":false,"year":2016},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/alzheimer-disease-scientific-breakthroughs-and-translational-28578785","doi":"10.1016/j.mayocp.2017.02.011","journal":"Mayo Clinic proceedings","n_participants":null,"pmid":"28578785","source_url":"https://pubmed.ncbi.nlm.nih.gov/28578785/","study_design":null,"title":"Alzheimer Disease: Scientific Breakthroughs and Translational Challenges","title_match":false,"year":2017},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/whole-genome-sequencing-suggests-a-chemokine-gene-cluster-that-26324103","doi":"10.1038/mp.2015.131","journal":"Molecular psychiatry","n_participants":72,"pmid":"26324103","source_url":"https://pubmed.ncbi.nlm.nih.gov/26324103/","study_design":null,"title":"Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease","title_match":false,"year":2015},{"alzhub_score":55,"alzhub_url":"https://alzhub.org/study/a-neurodegenerative-disease-landscape-of-rare-mutations-in-colombia-35260199","doi":"10.1186/s13073-022-01035-9","journal":"Genome medicine","n_participants":376,"pmid":"35260199","source_url":"https://pubmed.ncbi.nlm.nih.gov/35260199/","study_design":null,"title":"A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects","title_match":false,"year":2022},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/genome-sequencing-for-early-onset-or-atypical-dementia-high-31836585","doi":"10.1101/mcs.a003491","journal":"Cold Spring Harbor molecular case studies","n_participants":32,"pmid":"31836585","source_url":"https://pubmed.ncbi.nlm.nih.gov/31836585/","study_design":null,"title":"Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles","title_match":false,"year":2019},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/triggering-receptor-expressed-on-myeloid-cell-2-r47h-exacerbates-33101276","doi":"10.3389/fimmu.2020.559342","journal":"Frontiers in immunology","n_participants":null,"pmid":"33101276","source_url":"https://pubmed.ncbi.nlm.nih.gov/33101276/","study_design":null,"title":"Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain","title_match":false,"year":2020},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/homozygous-carriers-of-app-a713t-mutation-in-an-autosomal-dominant-25948718","doi":"10.1212/wnl.0000000000001648","journal":"Neurology","n_participants":null,"pmid":"25948718","source_url":"https://pubmed.ncbi.nlm.nih.gov/25948718/","study_design":null,"title":"Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family","title_match":true,"year":2015},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/autophagy-failure-in-alzheimer-s-disease-locating-the-primary-defect-21296668","doi":"10.1016/j.nbd.2011.01.021","journal":"Neurobiology of disease","n_participants":null,"pmid":"21296668","source_url":"https://pubmed.ncbi.nlm.nih.gov/21296668/","study_design":null,"title":"Autophagy failure in Alzheimer's disease--locating the primary defect","title_match":false,"year":2011},{"alzhub_score":40,"alzhub_url":"https://alzhub.org/study/autosomal-dominant-alzheimer-s-disease-a-review-and-proposal-for-the-21211070","doi":"10.1186/alzrt59","journal":"Alzheimer's research & therapy","n_participants":null,"pmid":"21211070","source_url":"https://pubmed.ncbi.nlm.nih.gov/21211070/","study_design":null,"title":"Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease","title_match":true,"year":2011},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/the-swedish-mutation-causes-early-onset-alzheimer-s-disease-by-beta-7489411","doi":"10.1038/nm1295-1291","journal":"Nature medicine","n_participants":null,"pmid":"7489411","source_url":"https://pubmed.ncbi.nlm.nih.gov/7489411/","study_design":null,"title":"The Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway","title_match":true,"year":1995},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/destabilization-of-beta-catenin-by-mutations-in-presenilin-1-9790190","doi":"10.1038/27208","journal":"Nature","n_participants":null,"pmid":"9790190","source_url":"https://pubmed.ncbi.nlm.nih.gov/9790190/","study_design":null,"title":"Destabilization of beta-catenin by mutations in presenilin-1 potentiates neuronal apoptosis","title_match":false,"year":1998},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/linking-abeta-and-tau-in-late-onset-alzheimer-s-disease-a-dual-19038212","doi":"10.1016/j.neuron.2008.11.007","journal":"Neuron","n_participants":null,"pmid":"19038212","source_url":"https://pubmed.ncbi.nlm.nih.gov/19038212/","study_design":null,"title":"Linking Abeta and tau in late-onset Alzheimer's disease: a dual pathway hypothesis","title_match":false,"year":2008},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/presenilin-1-mutations-downregulate-the-signalling-pathway-of-the-10587643","doi":"10.1038/70265","journal":"Nature cell biology","n_participants":null,"pmid":"10587643","source_url":"https://pubmed.ncbi.nlm.nih.gov/10587643/","study_design":null,"title":"Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response","title_match":false,"year":1999},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/alzheimer-associated-presenilins-1-and-2-neuronal-expression-in-brain-8574969","doi":"10.1038/nm0296-224","journal":"Nature medicine","n_participants":null,"pmid":"8574969","source_url":"https://pubmed.ncbi.nlm.nih.gov/8574969/","study_design":null,"title":"Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells","title_match":false,"year":1996},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/oxidative-damage-of-dj-1-is-linked-to-sporadic-parkinson-and-16517609","doi":"10.1074/jbc.m509079200","journal":"The Journal of biological chemistry","n_participants":null,"pmid":"16517609","source_url":"https://pubmed.ncbi.nlm.nih.gov/16517609/","study_design":null,"title":"Oxidative damage of DJ-1 is linked to sporadic Parkinson and Alzheimer diseases","title_match":false,"year":2006},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/presenilins-and-secretase-structure-function-and-role-in-alzheimer-22315713","doi":"10.1101/cshperspect.a006304","journal":"Cold Spring Harbor perspectives in medicine","n_participants":null,"pmid":"22315713","source_url":"https://pubmed.ncbi.nlm.nih.gov/22315713/","study_design":null,"title":"Presenilins and \u03b3-secretase: structure, function, and role in Alzheimer Disease","title_match":false,"year":2012},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/alzheimer-s-presenilin-mutation-sensitizes-neural-cells-to-apoptosis-9151738","doi":"10.1523/jneurosci.17-11-04212.1997","journal":"The Journal of neuroscience : the official journal of the Society for Neuroscience","n_participants":null,"pmid":"9151738","source_url":"https://pubmed.ncbi.nlm.nih.gov/9151738/","study_design":null,"title":"Alzheimer's presenilin mutation sensitizes neural cells to apoptosis induced by trophic factor withdrawal and amyloid beta-peptide: involvement of calcium and oxyradicals","title_match":false,"year":1997},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/disruption-of-neurogenesis-by-amyloid-beta-peptide-and-perturbed-12472904","doi":"10.1046/j.1471-4159.2002.01267.x","journal":"Journal of neurochemistry","n_participants":null,"pmid":"12472904","source_url":"https://pubmed.ncbi.nlm.nih.gov/12472904/","study_design":null,"title":"Disruption of neurogenesis by amyloid beta-peptide, and perturbed neural progenitor cell homeostasis, in models of Alzheimer's disease","title_match":false,"year":2002},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/gamma-secretase-gene-mutations-in-familial-acne-inversa-20929727","doi":"10.1126/science.1196284","journal":"Science (New York, N.Y.)","n_participants":null,"pmid":"20929727","source_url":"https://pubmed.ncbi.nlm.nih.gov/20929727/","study_design":null,"title":"Gamma-secretase gene mutations in familial acne inversa","title_match":false,"year":2010},{"alzhub_score":48,"alzhub_url":"https://alzhub.org/study/plasma-a-beta-40-and-a-beta-42-and-alzheimer-s-disease-relation-to-14610118","doi":"10.1212/01.wnl.0000091890.32140.8f","journal":"Neurology","n_participants":530,"pmid":"14610118","source_url":"https://pubmed.ncbi.nlm.nih.gov/14610118/","study_design":null,"title":"Plasma A[beta]40 and A[beta]42 and Alzheimer's disease: relation to age, mortality, and risk","title_match":false,"year":2003},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/amyloid-precursor-protein-presenilins-and-alpha-synuclein-molecular-12223532","doi":"10.1124/pr.54.3.469","journal":"Pharmacological reviews","n_participants":null,"pmid":"12223532","source_url":"https://pubmed.ncbi.nlm.nih.gov/12223532/","study_design":null,"title":"Amyloid precursor protein, presenilins, and alpha-synuclein: molecular pathogenesis and pharmacological applications in Alzheimer's disease","title_match":false,"year":2002},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/l-685-458-an-aspartyl-protease-transition-state-mimic-is-a-potent-10913280","doi":"10.1021/bi0005456","journal":"Biochemistry","n_participants":null,"pmid":"10913280","source_url":"https://pubmed.ncbi.nlm.nih.gov/10913280/","study_design":null,"title":"L-685,458, an aspartyl protease transition state mimic, is a potent inhibitor of amyloid beta-protein precursor gamma-secretase activity","title_match":false,"year":2000},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/stabilization-of-neurotoxic-alzheimer-amyloid-beta-oligomers-by-20713699","doi":"10.1073/pnas.1001740107","journal":"Proceedings of the National Academy of Sciences of the United States of America","n_participants":null,"pmid":"20713699","source_url":"https://pubmed.ncbi.nlm.nih.gov/20713699/","study_design":null,"title":"Stabilization of neurotoxic Alzheimer amyloid-beta oligomers by protein engineering","title_match":false,"year":2010},{"alzhub_score":41,"alzhub_url":"https://alzhub.org/study/the-structure-of-the-presenilin-1-s182-gene-and-identification-of-six-7550356","doi":"10.1038/ng1095-219","journal":"Nature genetics","n_participants":null,"pmid":"7550356","source_url":"https://pubmed.ncbi.nlm.nih.gov/7550356/","study_design":null,"title":"The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families","title_match":true,"year":1995},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/bace1-the-beta-secretase-enzyme-in-alzheimer-s-disease-15126696","doi":"10.1385/jmn:23:1-2:105","journal":"Journal of molecular neuroscience : MN","n_participants":null,"pmid":"15126696","source_url":"https://pubmed.ncbi.nlm.nih.gov/15126696/","study_design":null,"title":"BACE1: the beta-secretase enzyme in Alzheimer's disease","title_match":false,"year":2004},{"alzhub_score":38,"alzhub_url":"https://alzhub.org/study/epigenetics-in-alzheimer-s-disease-perspective-of-dna-methylation-28092081","doi":"10.1007/s12035-016-0357-6","journal":"Molecular neurobiology","n_participants":null,"pmid":"28092081","source_url":"https://pubmed.ncbi.nlm.nih.gov/28092081/","study_design":null,"title":"Epigenetics in Alzheimer's Disease: Perspective of DNA Methylation","title_match":false,"year":2018},{"alzhub_score":36,"alzhub_url":"https://alzhub.org/study/redox-proteomics-identification-of-oxidatively-modified-brain-17183150","doi":"10.3233/jad-2006-10407","journal":"Journal of Alzheimer's disease : JAD","n_participants":null,"pmid":"17183150","source_url":"https://pubmed.ncbi.nlm.nih.gov/17183150/","study_design":null,"title":"Redox proteomics identification of oxidatively modified brain proteins in inherited Alzheimer's disease: an initial assessment","title_match":false,"year":2006},{"alzhub_score":47,"alzhub_url":"https://alzhub.org/study/the-apoe-r136s-mutation-protects-against-apoe4-driven-tau-pathology-37957317","doi":"10.1038/s41593-023-01480-8","journal":"Nature neuroscience","n_participants":null,"pmid":"37957317","source_url":"https://pubmed.ncbi.nlm.nih.gov/37957317/","study_design":null,"title":"The APOE-R136S mutation protects against APOE4-driven Tau pathology, neurodegeneration and neuroinflammation","title_match":false,"year":2023},{"alzhub_score":62,"alzhub_url":"https://alzhub.org/study/the-longitudinal-early-onset-alzheimer-s-disease-study-leads-34018654","doi":"10.1002/alz.12350","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"34018654","source_url":"https://pubmed.ncbi.nlm.nih.gov/34018654/","study_design":"longitudinal study","title":"The Longitudinal Early-onset Alzheimer's Disease Study (LEADS): Framework and methodology","title_match":true,"year":2021},{"alzhub_score":66,"alzhub_url":"https://alzhub.org/study/amyloid-and-tau-pet-in-early-onset-ad-baseline-data-from-the-37690109","doi":"10.1002/alz.13453","journal":"Alzheimer's & dementia : the journal of the Alzheimer's Association","n_participants":null,"pmid":"37690109","source_url":"https://pubmed.ncbi.nlm.nih.gov/37690109/","study_design":"longitudinal study","title":"Amyloid and tau-PET in early-onset AD: Baseline data from the Longitudinal Early-onset Alzheimer's Disease Study (LEADS)","title_match":true,"year":2023},{"alzhub_score":52,"alzhub_url":"https://alzhub.org/study/amyloid-and-tau-pathology-associations-with-personality-traits-32228870","doi":"10.1016/j.biopsych.2020.01.023","journal":"Biological psychiatry","n_participants":117,"pmid":"32228870","source_url":"https://pubmed.ncbi.nlm.nih.gov/32228870/","study_design":null,"title":"Amyloid and Tau Pathology Associations With Personality Traits, Neuropsychiatric Symptoms, and Cognitive Lifestyle in the Preclinical Phases of Sporadic and Autosomal Dominant Alzheimer's Disease","title_match":true,"year":2021},{"alzhub_score":53,"alzhub_url":"https://alzhub.org/study/longitudinal-amyloid-and-tau-accumulation-in-autosomal-dominant-33451357","doi":"10.1186/s13195-020-00765-5","journal":"Alzheimer's research & therapy","n_participants":null,"pmid":"33451357","source_url":"https://pubmed.ncbi.nlm.nih.gov/33451357/","study_design":"cross-sectional","title":"Longitudinal amyloid and tau accumulation in autosomal dominant Alzheimer's disease: findings from the Colombia-Boston (COLBOS) biomarker study","title_match":true,"year":2021},{"alzhub_score":83,"alzhub_url":"https://alzhub.org/study/demographic-clinical-biomarker-and-neuropathological-correlates-of-38267189","doi":"10.1016/s1474-4422(23)00414-3","journal":"The Lancet. Neurology","n_participants":1092,"pmid":"38267189","source_url":"https://pubmed.ncbi.nlm.nih.gov/38267189/","study_design":"meta-analysis","title":"Demographic, clinical, biomarker, and neuropathological correlates of posterior cortical atrophy: an international cohort study and individual participant data meta-analysis","title_match":false,"year":2024}]}