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Article

SMN1 gene duplications are associated with sporadic ALS.

Neurology - 13 Mar 2012

Blauw H M, Barnes C P, van Vught P W J, van Rheenen W, Verheul M, Cuppen E, Veldink J H, van den Berg L H

Abstract excerpt

OBJECTIVE: To investigate the role of SMN1 and SMN2 copy number variation and point mutations in amyotrophic lateral sclerosis (ALS) pathogenesis in a large population. METHODS: We conducted a genetic association study including 847 patients with ALS and 984 controls. We used multiplexed ligation-dependent probe amplification (MLPA) assays to determine SMN1 and SMN2 copy numbers and examined effects on disease...

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Share to Amyotrophic Lateral Sclerosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22323753
DOI: 10.1212/WNL.0b013e318249f697
PMCID: PMC3304946

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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