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Research

27,380 Alzheimer's and dementia studies in plain English, each scored out of 100.

Find studies

Showing 51–75 of 78 studies in Brain tissue and pathology · tagged Genetics (page 3 of 4) · 27,380 in the whole library · How the 0–100 score works

Browse by subject, author or institution

Each number is how many studies that link shows, with your other filters kept.

Other subjects

Authors

Names as each record prints them; the same person can appear under two spellings.

Institutions

From OpenAlex; 12,859 studies have no institution on record and are not counted here.

What “Brain tissue and pathology” covers

Brain tissue and pathology — What is found in the brain itself, usually after death: plaques, tangles and other changes, and how they match symptoms in life.

A note on reading research. One study is rarely the final word.

We try to note the size of a study, whether it was in humans or animals, and how early-stage the finding is. If a summary here doesn't make that clear, treat it with extra caution and check the original source.

Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage

✓ Peer-reviewed alzhub usefulness score 45 out of 100. American journal of human genetics 1991-06-01

A genetic component in the etiology of Alzheimer disease (AD) has been supported by indirect evidence for several years, with autosomal dominant inheritance with age-dependent penetrance being suggested to explain the familial aggregation of affecteds. 4 key findings →

Evidence: low

Full summary, score breakdown and related studies → Original source Full text may need a subscription

Molecular Mechanisms of Protein Aggregation in ALS-FTD: Focus on TDP-43 and Cellular Protective Responses

✓ Peer-reviewed alzhub usefulness score 44 out of 100. Cells 2025-05-08

Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) are two neurodegenerative disorders that share common genes and pathomechanisms and are referred to as the ALS-FTD spectrum. 5 key findings →

Evidence: low

Full summary, score breakdown and related studies → Original source Free full text

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder

✓ Peer-reviewed alzhub usefulness score 43 out of 100. Biochimica et biophysica acta 2008-09-18

Inclusion body myopathy (IBM) associated with Paget disease of the bone (PDB) and frontotemporal dementia (FTD) (now called IBMPFD), is a progressive autosomal dominant disorder that was recently identified as being caused by mutations in the VCP (p97 or CDC48) gene which plays a key role in the ubiquitin-proteasome dependent degradation of cytosolic proteins and in the retro translocation of misfolded proteins from the endoplasmic reticulum into the cytoplasm. 4 key findings →

Evidence: low

Full summary, score breakdown and related studies → Original source Free full text

Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment

✓ Peer-reviewed alzhub usefulness score 43 out of 100. Acta Neuropathologica Communications 2025-01-04

Mutations in the ANXA11 gene, encoding an RNA-binding protein, have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), but the underlying in vivo mechanisms remain unclear. 4 key findings →

Evidence: low

Full summary, score breakdown and related studies → Original source Free full text

A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease

✓ Peer-reviewed alzhub usefulness score 43 out of 100. Scientific Reports 2025-01-23

Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. 2 key findings →

Evidence: low

Full summary, score breakdown and related studies → Original source Free full text

Myopathic aggregation-prone variants in the TDP-43 prion-like domain: genetics paving the way

✓ Peer-reviewed alzhub usefulness score 41 out of 100. Brain 2025-02-26

While neuropathological and genetic studies have established the crucial involvement of TDP-43 proteinopathy in the pathogenesis of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and related neurodegenerative disorders, multiple studies have described the presence of TDP-43 inclusions in muscular disorders, including inclusion body myositis but also other related rimmed vacuole myopathies. 5 key findings →

Evidence: low

Full summary, score breakdown and related studies → Original source Free full text

Data‐driven discovery of midlife cardiometabolic profile associated with incident early‐onset and late‐onset dementia

✓ Peer-reviewed alzhub usefulness score 41 out of 100. Diabetes Obesity and Metabolism 2025-03-06

During a median follow-up of 14.1 years, 279 early-onset dementia cases and 3167 late-onset dementia cases were documented. 5 key findings →

Participants: 249 Evidence: low

Full summary, score breakdown and related studies → Original source Full text may need a subscription

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects

✓ Peer-reviewed alzhub usefulness score 40 out of 100. Annals of neurology 1999-08-01

Phenotypic heterogeneity in sporadic Creutzfeldt-Jakob disease (sCJD) is well documented, but there is not yet a systematic classification of the disease variants. 1 key finding →

Evidence: low

Full summary, score breakdown and related studies → Original source

TDP-43 and Limbic-Predominant Age-Related TDP-43 Encephalopathy

✓ Peer-reviewed alzhub usefulness score 39 out of 100. Frontiers in aging neuroscience 2020-01-14

Through a number of an extensive autopsy, biomarker, and genomics studies, researchers have recently defined a novel type of dementia known as limbic-predominant age-related TDP-43 encephalopathy (LATE). 1 key finding →

Evidence: low

Full summary, score breakdown and related studies → Original source

Accumulation of TDP-43 causes karyopherin-α4 pathology that characterises amyotrophic lateral sclerosis

✓ Peer-reviewed alzhub usefulness score 38 out of 100. Frontiers in Neuroscience 2025-07-23

Cytoplasmic mislocalisation and nuclear depletion of TDP-43 are pathological hallmarks of amyotrophic lateral sclerosis (ALS), including mutations in the C9ORF72 gene that characterise the most common genetic form of ALS (C9ALS). 3 key findings →

Evidence: low

Full summary, score breakdown and related studies → Original source Free full text

Late-onset dementia with leukoencephalopathy and a COL4A2 gene variant, causal link or fortuitous association: a case report

✓ Peer-reviewed alzhub usefulness score 36 out of 100. Cerebral Circulation - Cognition and Behavior 2025-01-01

Cerebral small vessel disease can manifest as vascular dementia, typically associated with vascular risk factors or cerebral amyloid angiopathy, and more rarely associated with hereditary conditions. 5 key findings →

Evidence: low

Full summary, score breakdown and related studies → Original source Free full text

Aggregation of alpha-synuclein in Lewy bodies of sporadic Parkinson's disease and dementia with Lewy bodies

✓ Peer-reviewed alzhub usefulness score 36 out of 100. The American journal of pathology 1998-04-01

Lewy bodies (LBs) are hallmark lesions of degenerating neurons in the brains of patients with Parkinson's disease (PD) and dementia with Lewy bodies (DLB). 3 key findings →

Evidence: low

Full summary, score breakdown and related studies → Original source

Assessing Co‐Localization of ITM2B With Alzheimer's Disease and Limbic‐Predominant Age‐Related TDP ‐43 Encephalopathy Neuropathologic Changes

✓ Peer-reviewed alzhub usefulness score 35 out of 100. Neuropathology 2025-03-05

Mutations in the Integral membrane protein 2B (ITM2B) gene are linked to the development of familial British and Danish dementias, two relatively early-onset dementia disorders known also to be associated with Tau neurofibrillary tangles (NFTs). 2 key findings →

Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

Identifying potential drug targets for cerebral amyloid angiopathy: A Mendelian randomization study based on the druggable genes

✓ Peer-reviewed alzhub usefulness score 33 out of 100. Medicine 2025-10-31

Cerebral amyloid angiopathy (CAA), which is prevalent among older adults, constitutes a major cause of brain hemorrhage, dementia, and cognitive decline. 4 key findings →

Evidence: low

Full summary, score breakdown and related studies → Original source Free full text

TDP-43 proteinopathy: the complex biological and clinical findings in LATE-NC, LANS, and other mixed age-related major neurocognitive disorders

✓ Peer-reviewed alzhub usefulness score 32 out of 100. Current Opinion in Psychiatry 2025-07-15

Since the term limbic-predominant age-related TDP-43 encephalopathy (LATE) was coined in 2019, more than 200 articles addressing the subject were published. 1 key finding →

Evidence: low

Full summary, score breakdown and related studies → Original source Full text may need a subscription

Transactive response DNA-binding protein 43 (TDP-43) proteinopathy: the complex biological and clinical findings in limbic-predominant age-related TDP-43 encephalopathy (LATE) neuropathological changes, limbic-predominant amnestic neurodegenerative syndrome, and other mixed age-related major neurocognitive disorders

✓ Peer-reviewed alzhub usefulness score 32 out of 100. Current Opinion in Psychiatry 2025-07-16

As the term limbic-predominant age-related transactive response DNA-binding protein 43 (TDP-43) encephalopathy (LATE) was coined in 2019, more than 200 articles addressing the subject were published. 1 key finding →

Evidence: low

Full summary, score breakdown and related studies → Original source Full text may need a subscription

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Where “Free full text” comes from

Free full text links and the Full text may need a subscription label come from Unpaywall, Europe PMC and OpenAlex records of free copies, checked 10 Oct 2026. A study with neither is unknown, not paywalled. Show only studies that are free to read

How the 0–100 score works — and why some entries are capped

This is alzhub's own score. It is not an official metric, not an impact factor, and no journal, publisher or ranking body endorses it. We built it so that a reader who is not a scientist can tell a landmark trial from a conference abstract without having to already know the difference. Every point comes from one of 20 components, all of them printed on the study itself, so you can disagree with our arithmetic rather than having to trust the total.

  • Journal tier up to 10 pts
  • Journal's citation record up to 4 pts
  • Study design up to 12 pts
  • Strength of evidence up to 5 pts
  • Peer-review validation up to 10 pts
  • How recent up to 5 pts
  • Sample size up to 4 pts
  • Effect reported up to 3 pts
  • Studied in people up to 3 pts
  • Randomised / blinded up to 2 pts
  • Times cited up to 7 pts
  • Citations per year up to 5 pts
  • Impact for its field and year up to 6 pts
  • Cited by studies here up to 6 pts
  • Still being cited up to 4 pts
  • Senior author's track record up to 4 pts
  • Institution's track record up to 3 pts
  • Multi-centre collaboration up to 3 pts
  • Indexed in PubMed up to 2 pts
  • Free to read up to 2 pts

Journals are placed in ordered tiers, never given a numeric impact factor — we could not verify current impact factors from a source we control, and an invented one would be worse than none. Tier 1 is the top-tier general journals (NEJM, The Lancet, JAMA, Nature, Science, Nature Medicine); tier 2 is the leading specialty journals; tier 3 is every other peer-reviewed journal. A separate part scores how much the journal's own papers are cited, which tells the tier-3 journals apart.

Two rules we don't bend. First, we never fill in a missing value: if a record does not state a sample size or a design, that component scores zero, and if we simply have no data for a part, such as a citation count, that part is left out and the study is scored on the parts we could check. The study card says which. Second, anything that is not a peer-reviewed article is capped at 16/100 and carries a warning chip — so a conference abstract or a company press release can never outrank a peer-reviewed paper, no matter how good it looks.

We rank a rigorous null result — a good trial showing that something does not work — above an early positive finding. Someone deciding whether to buy a supplement is served by that, and the rigour is already counted by the design and journal components.

The score is computed from the published data alone and is reproducible: the same file always yields the same numbers.

See the whole rubric drawn out → — four charts covering all 27,380 studies: how the scores are spread and where the cap bites, which of the 20 components the library is strong and weak on, which subjects rest on stronger evidence, and what kinds of study each subject is actually built from.

What this library is — and isn't

This is a large sample of the Alzheimer's literature, not an exhaustive index of it. It holds 27,380 records, built mostly from automated pulls of Europe PMC (60.6% of the library) and OpenAlex (18.6%), plus smaller pulls from PubMed, Crossref and medRxiv. If a study, a drug, or a finding isn't here, that is not evidence it doesn't exist in the literature — it may simply not have been pulled in yet.

1,032 records (3.8% of the library) are not peer-reviewed — 962 of those are preprints posted before any journal review, and the rest are conference abstracts, regulatory notices and reports. Every study card on this page states its status plainly, and the score above is capped for anything that isn't a peer-reviewed article.

See the full, machine-readable breakdown of this library's coverage →

Newest studies, as a dated timeline →    Atom feed