Evidence map›Paper›PMID 41919497›Full record

ReviewThe Journal of clinical investigation2026

Genetic analysis of neurodegenerative diseases.

Maurizio Grassano, Alice B Schindler, Bryan J Traynor, Sonja W Scholz

Abstract readReview
In one paragraph

Review in The Journal of clinical investigation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Maurizio GrassanoNeurodegenerative Diseases Research Section, National Institute of Neurological Disorders and Stroke.
Alice B SchindlerNeurogenetics Branch, National Institute of Neurological Disorders and Stroke; and.
Bryan J TraynorNeuromuscular Diseases Research Section, National Institute on Aging, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Sonja W ScholzNeurodegenerative Diseases Research Section, National Institute of Neurological Disorders and Stroke.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recent advances in genomic technologies have greatly enhanced our understanding of neurodegeneration. Techniques like whole-genome sequencing, long-read sequencing, and large-scale population studies have expanded the range of identified genetic risk factors, uncovering new disease mechanisms and biological pathways that could serve as therapeutic targets. However, translating these genetic insights into clinical practice remains difficult because of challenges in interpreting variants and the limited functional validation of new discoveries. This Review highlights the key genomic technologies advancing diagnosis and research in neurodegeneration. We focus on improvements in variant classification, detection of structural variants and repeat expansions, and combining transcriptomic, proteomic, and functional data to better determine variant pathogenicity. The ongoing integration of genomics, molecular neurobiology, and data science offers great potential for more accurate, biologically informed diagnosis and treatment of neurodegenerative disorders.

Indexed as

GenomicsNeurodegenerative DiseasesAnimalsHumansProteomics

Identifiers

PMID41919497
PMCPMC13038203

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.