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Article

Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene.

Journal of the neurological sciences - 15 Jun 2010

Battistini Stefania, Ricci Claudia, Lotti Enrico Maria, Benigni Michele, Gagliardi Stella, Zucco Riccardo, Bondavalli Massimo, Marcello Norina, Ceroni Mauro, Cereda Cristina

Abstract excerpt

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease associated with a positive familial history in 5-10% of ALS cases. Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12%-23% of patients diagnosed with familial ALS. Here we report a novel mutation in exon 4 of SOD1 gene in a 55-year-old ALS patient belonging to a large Italian family with ALS first clinically described in...

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Identifiers

PMID: 20385392
DOI: 10.1016/j.jns.2010.03.009

Genes

SOD1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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