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Article

FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.

European journal of human genetics : EJHG - 1 Feb 2017

Osmanovic Alma, Rangnau Isolde, Kosfeld Anne, Abdulla Susanne, Janssen Claas, Auber Bernd, Raab Peter, Preller Matthias, Petri Susanne, Weber Ruthild G

Abstract excerpt

We aimed to identify the genetic cause of the devastating neurodegenerative disease amyotrophic lateral sclerosis (ALS) in a German family with two affected individuals, and to assess the prevalence of variants in the identified risk gene, FIG4, in a central European ALS cohort. Whole-exome sequencing (WES) and an overlapping data analysis strategy were performed in an ALS family with autosomal dominant...

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Identifiers

PMID: 28051077
DOI: 10.1038/ejhg.2016.186
PMCID: PMC5315518

Genes

FIG4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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