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Article

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation.

Neurobiology of aging - 1 Aug 2009

Chiò Adriano, Restagno Gabriella, Brunetti Maura, Ossola Irene, Calvo Andrea, Mora Gabriele, Sabatelli Mario, Monsurrò Maria Rosaria, Battistini Stefania, Mandrioli Jessica, Salvi Fabrizio, Spataro Rossella, Schymick Jennifer, Traynor Bryan J, La Bella Vincenzo

Abstract excerpt

Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a...

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Source

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Identifiers

PMID: 19450904
DOI: 10.1016/j.neurobiolaging.2009.05.001
PMCID: PMC2771748

Genes

FUS
SOD1
TARDBP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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