Evidence map›Paper›PMID 42195033›Full record

ReviewGenes2026

From Mutation to Manifestation: Penetrance in Amyotrophic Lateral Sclerosis.

Elodie Richard, Sally Al-Hajj Vourc'h, Sylviane Marouillat, Stéphane Beltran, Hélène Blasco, Philippe Corcia, Patrick Vourc'h

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

7 authors.

Elodie RichardService de Biochimie et Biologie Moléculaire, CHRU de Tours, 37044 Tours, France.
Sally Al-Hajj Vourc'hCentre de Référence SLA et Autres Maladies du Neurone Moteur, CHRU de Tours, 37044 Tours, France.
Sylviane MarouillatImaging Brain & Neuropsychiatry IBraiN U1253, INSERM, Université de Tours, 37020 Tours, France.ORCID 0000-0001-7918-9755
Stéphane BeltranCentre de Référence SLA et Autres Maladies du Neurone Moteur, CHRU de Tours, 37044 Tours, France.ORCID 0000-0003-4718-0902
Hélène BlascoService de Biochimie et Biologie Moléculaire, CHRU de Tours, 37044 Tours, France.
Philippe CorciaCentre de Référence SLA et Autres Maladies du Neurone Moteur, CHRU de Tours, 37044 Tours, France.ORCID 0000-0002-1625-8845
Patrick Vourc'hService de Biochimie et Biologie Moléculaire, CHRU de Tours, 37044 Tours, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by progressive loss of motor neurons in the brain and spinal cord. While most cases are sporadic, around 10% are familial. Recent genetic studies show that many apparently isolated cases carry pathogenic mutations, highlighting the importance of penetrance, the probability that a causal mutation manifests clinically. This review focuses on mutation penetrance in ALS (

Indexed as

Amyotrophic Lateral SclerosisMutationPenetranceC9orf72 ProteinDNA-Binding ProteinsGenetic CounselingGenetic Predisposition to DiseaseHumansRNA-Binding Protein FUSSuperoxide Dismutase-1C9orf72 ProteinC9orf72 protein, humanDNA-Binding ProteinsFUS protein, humanRNA-Binding Protein FUSSOD1 protein, humanSuperoxide Dismutase-1TARDBP protein, humanALSgenetic counselinggeneticsvariable expressivity

Identifiers

PMID42195033
PMCPMC13206507

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.