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Article

Prevalence of SOD1 mutations in the Italian ALS population.

Neurology - 12 Feb 2008

Chiò A, Traynor B J, Lombardo F, Fimognari M, Calvo A, Ghiglione P, Mutani R, Restagno G

Abstract excerpt

BACKGROUND: Five to 10% of amyotrophic lateral sclerosis (ALS) cases are reported to be familial (FALS), and mutations of SOD1 account for 20% of these cases. However, estimates of SOD1 mutation prevalence have been exclusively based on case series and clinic referral cohorts. OBJECTIVE: To assess the frequency and nature of SOD1 mutations in a large population-based cohort of Italian patients diagnosed with ALS...

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Source

Identifiers

PMID: 18268245
DOI: 10.1212/01.wnl.0000299187.90432.3f

Genes

SOD1

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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