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Research

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

Find studies

Showing 1–25 of 29 studies in American journal of human genetics · free to read (page 1 of 2) · 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.

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.

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.

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

✓ Peer-reviewed alzhub usefulness score 60 out of 100. American journal of human genetics 1999-09-01

To determine the prevalence of early-onset Alzheimer disease (EOAD) and of autosomal dominant forms of EOAD (ADEOAD), we performed a population-based study in the city of Rouen (426,710 residents). 4 key findings →

Participants: 100,000 Evidence: low

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

Genetic control of human brain transcript expression in Alzheimer disease

✓ Peer-reviewed alzhub usefulness score 57 out of 100. American journal of human genetics 2009-04-01

We recently surveyed the relationship between the human brain transcriptome and genome in a series of neuropathologically normal postmortem samples. 4 key findings →

Participants: 188 Evidence: moderate

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

Age at onset in two common neurodegenerative diseases is genetically controlled

✓ Peer-reviewed alzhub usefulness score 53 out of 100. American journal of human genetics 2002-03-01

To identify genes influencing age at onset (AAO) in two common neurodegenerative diseases, a genomic screen was performed for AAO in families with Alzheimer disease (AD; n=449) and Parkinson disease (PD; n=174). 2 key findings →

Participants: 449 Evidence: low

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

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

✓ Peer-reviewed alzhub usefulness score 53 out of 100. American journal of human genetics 2012-05-17

We performed hypothesis-free linkage analysis and exome sequencing in a family with two siblings who had neuronal ceroid lipofuscinosis (NCL). 3 key findings →

Evidence: low

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

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype

✓ Peer-reviewed alzhub usefulness score 53 out of 100. American journal of human genetics 2002-06-21

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as "Nasu-Hakola disease," is a globally distributed recessively inherited disease leading to death during the 5th decade of life and is characterized by early-onset progressive dementia and bone cysts. 4 key findings →

Evidence: low

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

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

✓ Peer-reviewed alzhub usefulness score 52 out of 100. American journal of human genetics 2011-07-01

To identify rare causal variants in late-onset Parkinson disease (PD), we investigated an Austrian family with 16 affected individuals by exome sequencing. 4 key findings →

Evidence: low

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

The number of trait loci in late-onset Alzheimer disease

✓ Peer-reviewed alzhub usefulness score 51 out of 100. American journal of human genetics 2000-01-01

Although it is clear that apoE plays an important role in the genetics of late-onset Alzheimer disease (AD), evidence exists that additional genes may play a role in AD, and estimates of the total contribution of apoE to the variance in onset of AD vary widely. 2 key findings →

Participants: 742 Evidence: low

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

Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer disease

✓ Peer-reviewed alzhub usefulness score 50 out of 100. American Journal of Human Genetics 2026-04-30

Alzheimer disease (AD) risk differs across ancestral populations, yet most genetic studies have focused on non-Hispanic White (NHW) cohorts. 1 key finding →

Design: cross-sectional Participants: 751 Evidence: early

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

A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics

✓ Peer-reviewed alzhub usefulness score 49 out of 100. American journal of human genetics 2017-12-01

Despite the success of large-scale genome-wide association studies (GWASs) on complex traits, our understanding of their genetic architecture is far from complete. 2 key findings →

Evidence: low

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

Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease

✓ Peer-reviewed alzhub usefulness score 49 out of 100. American journal of human genetics 2009-01-01

Only Apolipoprotein E polymorphisms have been consistently associated with the risk of late-onset Alzheimer disease (LOAD), but they represent only a minority of the underlying genetic effect. 2 key findings →

Evidence: low

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

SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease

✓ Peer-reviewed alzhub usefulness score 48 out of 100. American journal of human genetics 2000-06-21

There has been great interest in the prospects of using single-nucleotide polymorphisms (SNPs) in the search for complex disease genes, and several initiatives devoted to the identification and mapping of SNPs throughout the human genome are currently underway. 2 key findings →

Evidence: low

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

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement

✓ Peer-reviewed alzhub usefulness score 48 out of 100. American journal of human genetics 2011-06-16

Autosomal-dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders. 5 key findings →

Evidence: moderate

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

GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank

✓ Peer-reviewed alzhub usefulness score 48 out of 100. American journal of human genetics 2019-09-26

Age-related hearing impairment (ARHI) is the most common sensory impairment in the aging population; a third of individuals are affected by disabling hearing loss by the age of 65. 3 key findings →

Evidence: low

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

omicSynth: An open multi-omic community resource for identifying druggable targets across neurodegenerative diseases

✓ Peer-reviewed alzhub usefulness score 48 out of 100. American journal of human genetics 2024-01-01

Treatments for neurodegenerative disorders remain rare, but recent FDA approvals, such as lecanemab and aducanumab for Alzheimer disease (MIM: 607822), highlight the importance of the underlying biological mechanisms in driving discovery and creating disease modifying therapies. 4 key findings →

Evidence: low

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

Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease

✓ Peer-reviewed alzhub usefulness score 47 out of 100. American journal of human genetics 2006-04-10

Genetic variations in promoter sequences that alter gene expression play a prominent role in increasing susceptibility to complex diseases. 1 key finding →

Evidence: low

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

High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes

✓ Peer-reviewed alzhub usefulness score 47 out of 100. American journal of human genetics 2000-01-01

Clinical differential diagnosis of early-onset dementia (EOD) includes familial Alzheimer disease (FAD) and hereditary prion disease. 4 key findings →

Participants: 16 Evidence: low

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

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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.

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