Each study has a usefulness score out of 100 (rubric version 4.0). Tap a score to see what makes it up.
Highest usefulness score first. Studies without a score come last.
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Human apolipoprotein E (APOE) exists in three isoforms ɛ2, ɛ3, and ɛ4, of which APOE4 is the main genetic risk factor of Alzheimer's disease (AD).
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Brain pathology of Alzheimer's diseases (AD) and the genetics of autosomal dominant familial AD have been the "lamp posts" under which the AD field has been looking for therapeutic targets.
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The mean coverage of the amino acid sequence of full-length ApoE was 91.6% in the protein resequence.
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Over 200 rare and fully penetrant pathogenic mutations in amyloid precursor protein (APP), presenilin 1 and 2 (PSEN1 and PSEN2) cause a subset of early-onset familial Alzheimer's disease (EO-FAD).
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The syndrome of hypogonadotropic hypogonadism, ataxia, and dementia can be caused by inactivating mutations in RNF216 or by the combination of mutations in RNF216 and OTUD4.
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The three human alleles of apolipoprotein E (APOE) differentially influence outcome after CNS injury and affect one's risk of developing Alzheimer's disease (AD).
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This study provides empirical support for the suggestion that the APOE locus is the major susceptibility gene for late-onset AD in the human genome, with an OR significantly greater than any other locus in the human genome.
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Cockayne syndrome and xeroderma pigmentosum-Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology.
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The ageing of the human brain is a cause of cognitive decline in the elderly and the major risk factor for Alzheimer's disease.
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41/100
The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype.
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The mean AAO was 46.9 years (median 45 years; range 33 to 60 years).
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41/100
In a family with autopsy-confirmed Alzheimer disease, the authors found a mutation in the presenilin 2 (PS2) gene (PSEN2) that predicts a methionine-to-isoleucine change at PS2 residue 239 (M239I), at which a change to valine was known in another family.
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The Volga German kindreds are a group of seven related families with autosomal dominant early-onset Alzheimer's disease (AD).
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Apolipoprotein E4 (apoE4), one of the three common isoforms of apoE, has been implicated in Alzheimer's disease.
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Linkage analysis was used to search the genome for chromosomal regions harboring familial Alzheimer's disease genes.
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A variable combination of developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy occurred in four members of a family and was maternally transmitted.
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Amyloid beta-protein (AP) is a peptide of relative molecular mass (Mr) 42,000 found in the senile plaques, cerebrovascular amyloid deposits, and neurofibrillary tangles of patients with Alzheimer's disease and Down's syndrome (trisomy 21).
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With the recently cloned complementary DNA probe, lambda Am4 for the chromosome 21 gene encoding brain amyloid polypeptide (beta amyloid protein) of Alzheimer's disease, leukocyte DNA from three patients with sporadic Alzheimer's disease and two patients with karyotypically normal Down syndrome was found to contain three copies of this gene.
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Alzheimer's disease is a leading cause of morbidity and mortality among the elderly.
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With the rapid generation of spatial transcriptomics (ST) data, integrative analysis of multiple ST datasets from different conditions, technologies and developmental stages is becoming increasingly important.
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Alzheimer's Disease (AD) is a multifactorial disease that shares common etiologies with its multiple comorbidities, especially vascular diseases.
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The impact of apolipoprotein E ε4 (APOE4), the strongest genetic risk factor for Alzheimer's disease (AD), on human brain cellular function remains unclear.
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Resolving glial contributions to Alzheimer's disease (AD) is necessary because changes in neuronal function, such as reduced synaptic density, altered electrophysiological properties, and degeneration, are not entirely cell autonomous.
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Alzheimer's disease (AD) is the most common neurodegenerative disease, with cognitive decline as the primary clinical feature.
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The hippocampal-entorhinal system supports cognitive functions, has lifelong neurogenic capabilities in many species, and is selectively vulnerable to Alzheimer's disease.
From across this topic
9 of the 933 studies in this topic, picked by a fixed rule (a hash of each study's address), not by score or date; each page of this list shows a different 9. The same 9 appear here every time.
- Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases
- A single-cell transcriptome atlas of glial diversity in the human hippocampus across the postnatal lifespan
- Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence
- Apolipoprotein E: the resilience gene
- Early Prediction of Parkinson’s Disease Progression by Integrating Research Cohort and Real-World Data Using Knowledge-Anchored Graph Learning
- Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
- APOE genotype and stress response - a mini review
- Apolipoprotein E in animal models of CNS injury and in Alzheimer's disease
- Neuropsychiatric symptom clusters and plasma proteomic signatures across cognitive ageing and dementia in Kinshasa, Democratic Republic of the Congo: a cross-sectional analysis of the EVCD-RDC cohort