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Article

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2017

Corcia Philippe, Danel Veronique, Lacour Arnaud, Beltran Stephane, Andres Christian, Couratier Philippe, Blasco Helene, Vourc'h Patrick

Abstract excerpt

Although amyotrophic lateral sclerosis (ALS) typically occurs around 60 years, numerous publications report an onset of ALS before the age of 25 years that define juvenile ALS (jALS). Over the last decade, growing literature mentioned jALS with an aggressive evolution which are mainly linked to the FUS gene. We report here the case of a 25-year-old woman with a bulbar onset ALS that progressed in less than 12...

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Source

Identifiers

PMID: 28054830
DOI: 10.1080/21678421.2016.1265564

Genes

FUS

Variants

Provenance

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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A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.PMID 28054830Read ↗

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