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Article

Homozygosity analysis in amyotrophic lateral sclerosis.

European journal of human genetics : EJHG - 1 Dec 2013

Mok Kin, Laaksovirta Hannu, Tienari Pentti J, Peuralinna Terhi, Myllykangas Liisa, Chiò Adriano, Traynor Bryan J, Nalls Michael A, Gurunlian Nicole, Shatunov Aleksey, Restagno Gabriella, Mora Gabriele, Nigel Leigh P, Shaw Chris E, Morrison Karen E, Shaw Pamela J, Al-Chalabi Ammar, Hardy John, Orrell Richard W

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) may appear to be familial or sporadic, with recognised dominant and recessive inheritance in a proportion of cases. Sporadic ALS may be caused by rare homozygous recessive mutations. We studied patients and controls from the UK and a multinational pooled analysis of GWAS data on homozygosity in ALS to determine any potential recessive variant leading to the disease. Six-hundred...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23612577
DOI: 10.1038/ejhg.2013.59
PMCID: PMC3829775

Genes

SOD1

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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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