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Article

Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2004

Niemann S, Joos H, Meyer T, Vielhaber S, Reuner U, Gleichmann M, Dengler R, Müller U

Abstract excerpt

Mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1) account for approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS). In this study, sequence analysis of exons 1-5 of SOD1 in a large German cohort with FALS was performed. Among 75 affected patients, who were not obviously related probands with a positive family history, nine had missense mutations in SOD1. Four of the nine...

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Source

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Identifiers

PMID: 15258228
DOI: 10.1136/jnnp.2003.028324
PMCID: PMC1739190

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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