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Article

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Archives of neurology - 1 Sept 2012

Daoud Hussein, Suhail Hamid, Sabbagh Mike, Belzil Veronique, Szuto Anna, Dionne-Laporte Alexandre, Khoris Jawad, Camu William, Salachas Francois, Meininger Vincent, Mathieu Jean, Strong Michael, Dion Patrick A, Rouleau Guy A

Abstract excerpt

OBJECTIVE: To further assess the presence of a large hexanucleotide repeat expansion in the first intron of the C9orf72 gene identified as the genetic cause of chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD) in 4 unrelated families with a conclusive linkage to c9ALS/FTD. DESIGN: A repeat-primed polymerase chain reaction assay. SETTING: Academic research. PARTICIPANTS:...

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PMID: 22964911
DOI: 10.1001/archneurol.2012.377

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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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