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Article

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis.

Muscle & nerve - 1 Aug 2010

Rademakers Rosa, Stewart Heather, Dejesus-Hernandez Mariely, Krieger Charles, Graff-Radford Neill, Fabros Marife, Briemberg Hannah, Cashman Neil, Eisen Andrew, Mackenzie Ian R A

Abstract excerpt

Mutations in the fused in sarcoma (FUS) gene have recently been found to cause familial amyotrophic lateral sclerosis (FALS). We screened FUS in a cohort of 200 ALS patients [32 FALS and 168 sporadic ALS (SALS)]. In one FALS proband, we identified a mutation (p.R521C) that was also present in her affected daughter. Their clinical phenotype was remarkably similar and atypical of classic ALS, with symmetric...

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Source

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Identifiers

PMID: 20544928
DOI: 10.1002/mus.21665
PMCID: PMC2969843

Genes

FUS
SOD1
TARDBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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