We identify novel genome-wide significant associations between DNA variants in TMEM106B and CSF levels of NfL, and between CPOX and YKL-40. 4 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
Research
30,580 Alzheimer's and dementia studies in plain English, each scored out of 100.
The strategies of classifying APP, PSEN1, and PSEN2 variants varied substantially in the previous studies. 1 key finding →
Evidence: low
Full summary, score breakdown and related studies → Original source
Presenilin1 (PSEN1) gene is the most common known genetic cause of early-onset familial Alzheimer's disease. 2 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
Presenilin 2 gene (PSEN2) mutations account for <5% of all early-onset familial Alzheimer's disease (EOFAD) cases and only 13 have strong evidence for pathogenicity. 1 key finding →
Participants: 19 Evidence: low
Full summary, score breakdown and related studies → Original source
We report a case of EOAD having a pathogenic PSEN1 (Trp165Cys) confirmed with in silico and in vitro predictions. 1 key finding →
Evidence: low
Full summary, score breakdown and related studies → Original source
A pathogenic mutation in the PSEN2 gene in a Korean patient associated with EOAD was identified. 5 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
Familial Alzheimer's disease (FAD) is caused by autosomal dominant mutations in the PSEN1, PSEN2 or APP genes, giving rise to considerable clinical and pathological heterogeneity in FAD. 4 key findings →
Evidence: moderate
Full summary, score breakdown and related studies → Original source
We identified two novel heterozygous mutations in two unrelated patients, Cys139Arg in the PGRN gene and Val412Ile in the PSEN1 gene. 4 key findings →
Participants: 17 Evidence: low
Full summary, score breakdown and related studies → Original source
Genetics can provide a systematic approach to discovering the tissues and cell types relevant for a complex disease or trait. 1 key finding →
Evidence: low
Full summary, score breakdown and related studies → Original source
45/100
Ninety per cent of the human population has been right-handed since the Paleolithic, yet the brain signature and genetic basis of handedness remain poorly characterized. 5 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
Genome-wide association studies (GWAS) aim to identify genetic factors associated with phenotypes. 2 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
Alzheimer's disease (AD) is the most common neurodegenerative disease in the world. 3 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
Although the frequency of the mutations is low in our series (4 of 188 patients [2%]), our results, similar to those already reported, support a direct pathogenic role of p62 in different types of FTD. 3 key findings →
Evidence: moderate
Full summary, score breakdown and related studies → Original source
Cerebrospinal fluid (CSF) biomarkers can directly reflect physiological and pathological changes within the central nervous system, serving as a critical element in the preliminary diagnosis and disease monitoring of central nervous system disorders. 1 key finding →
Evidence: low
Full summary, score breakdown and related studies → Original source
The We and others have previously shown that polygenic risk score analysis (PRS) has considerable predictive utility for identifying those at high risk of developing Alzheimer's disease (AD) with an area under the curve (AUC) of >0.8. 3 key findings →
Evidence: moderate
Full summary, score breakdown and related studies → Original source
GWAS focuses on significance loosing false positives; machine learning probes sub-significant features relying on predictivity. 3 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
While preclinical studies suggest that Phosphodiesterase 5 (PDE5) inhibition may reduce cognitive impairment, findings from observational studies on whether PDE5 inhibitors reduce Alzheimer's disease (AD) risk have been inconsistent. 2 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
43/100
Transcriptome-wide association study (TWAS) tools have been applied to conduct proteome-wide association studies (PWASs) by integrating proteomics data with genome-wide association study (GWAS) summary data. 2 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
For decades, the study of genetically isolated populations has improved our understanding and management of genetic diseases that affect all populations. 5 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
After more than 10 years of accumulated efforts, genome-wide association studies (GWAS) have led to many findings, most of which have been deposited into the GWAS Catalog. 5 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
Ventricular enlargement occurs in several neurodegenerative and psychiatric diseases. 4 key findings →
Evidence: moderate
Full summary, score breakdown and related studies → Original source
43/100
Alzheimer disease (AD) is a complex and progressive neurodegenerative disorder that accounts for the majority of individuals with dementia. 5 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
43/100
Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS). 5 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
The purpose of this protocol is to clearly describe the process for the scoping review we plan to conduct on the topic of polygenic risk scores (PRS) in common neurodegenerative diseases. 1 key finding →
Evidence: low
Full summary, score breakdown and related studies → Original source
Two SNPs at novel loci, rs112404845 (P = 3.8 × 10-8), upstream of COBL, and rs16961023 (P = 4.6 × 10-8), downstream of SLC10A2, obtained genome-wide significant evidence of association with the posterior liability. 2 key findings →
Evidence: low
Full summary, score breakdown and related studies → Original source
From across this tag
8 of the 359 studies in this tag that have a study page, 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 8. The same 8 appear here every time.
- Causal associations between risk factors and common diseases inferred from GWAS summary data
- A human phenome-interactome network of protein complexes implicated in genetic disorders
- Genome-Wide Association Study Identifies SLAMF1 Affecting the Rate of Memory Decline
- Multivariate genome wide association and network analysis of subcortical imaging phenotypes in Alzheimer's disease
- Genome-wide association study of Alzheimer's disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset
- Polygenic risk and hazard scores for Alzheimer's disease prediction
- Alzheimer's disease genetics: from the bench to the clinic
- Alzheimer's Disease Variant Portal: A Catalog of Genetic Findings for Alzheimer's Disease
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 30,580 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 30,580 records, built mostly from automated pulls of Europe PMC (64.7% of the library) and OpenAlex (16.6%), 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.
1,037 records (3.4% of the library) are not peer-reviewed — 964 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 Where this research is being discussed: events