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Article

The evolving genetic risk for sporadic ALS.

Neurology - 18 Jul 2017

Gibson Summer B, Downie Jonathan M, Tsetsou Spyridoula, Feusier Julie E, Figueroa Karla P, Bromberg Mark B, Jorde Lynn B, Pulst Stefan M

Abstract excerpt

OBJECTIVE: To estimate the genetic risk conferred by known amyotrophic lateral sclerosis (ALS)-associated genes to the pathogenesis of sporadic ALS (SALS) using variant allele frequencies combined with predicted variant pathogenicity. METHODS: Whole exome sequencing and repeat expansion PCR of C9orf72 and ATXN2 were performed on 87 patients of European ancestry with SALS seen at the University of Utah. DNA...

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Identifiers

PMID: 28642336
DOI: 10.1212/WNL.0000000000004109
PMCID: PMC5513819

Genes

ATXN2

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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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