Evidence map›Paper›PMID 25261972›Full record

ArticleBrain : a journal of neurology2014

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

Janel O Johnson, Shannon M Glynn, J Raphael Gibbs, Mike A Nalls, Mario Sabatelli, Gabriella Restagno, Vivian E Drory, Adriano Chiò, Ekaterina Rogaeva, Bryan J Traynor

Open access · hybridAbstract readLetterComment
In one paragraph

Article in Brain : a journal of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
81citing papers in PubMed, 2 pooled it
12.6field-weighted citation impact, top 1% of its field
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

81 citing papers in PubMed, 2 syntheses or guidelines pooled it, 151 citations in OpenAlex.

  1. Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Pooled it
  2. Pooled it
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  6. SLP2/PHB Aggregates in ALS Mouse Models and Patients: Implications BeyondInternational journal of molecular sciences · 2025
    Article
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  12. Review
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  17. Skeletal muscle in amyotrophic lateral sclerosis.Brain : a journal of neurology · 2023
    Review
  18. Review
  19. Review
  20. Review

21 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 6 institutions in 4 countries.

Janel O Johnson1 Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Shannon M Glynn1 Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
J Raphael Gibbs2 Computational Biology Core, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Mike A Nalls3 Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Mario Sabatelli4 Neurological Institute, Catholic University and Insieme Contro le Malattie del Motoneurone Association for ALS Research, Largo Agostino Gemelli 8, Rome 00168, Italy.
Gabriella Restagno5 Molecular Genetics Unit, Department of Clinical Pathology, Azienda Sanitaria Ospedaliera Ospedale Infantile Regina Margherita-Santa Anna, Turin 10126, Italy.
Vivian E Drory6 Department of Neurology, Sourasky Medical Centre, 6 Weizmann Street, Tel Aviv 64239, Israel.
Adriano Chiò7 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin 10124, Italy.
Ekaterina Rogaeva8 Tanz Centre for Research of Neurodegenerative Diseases, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario M5S 3H2, Canada.
Bryan J Traynor1 Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA traynorb@mail.nih.gov.
Catholic University of America · USNational Institutes of Health · USOspedale Regina Margherita · ITUniversity of Toronto · CAUniversity of Turin · ITWeizmann Institute of Science · IL

Funding

Genome wide SNP analysis in Amyotrophic Lateral SclerosisZIAAG000933 · NIA · NATIONAL INSTITUTE ON AGING · PI TRAYNOR, BRYAN · 2009 to 2025
$9.8M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Intramural NIH HHSNIA NIH HHS Z01-AG000949-02
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Amyotrophic Lateral SclerosisDNA, MitochondrialFemaleFrontotemporal DementiaHumansMaleMitochondriaMitochondrial DiseasesMitochondrial ProteinsDNA, MitochondrialMitochondrial Proteins

Identifiers

PMID25261972
PMCPMC4240285
OpenAlexW1984709596

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.