Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.

doi:10.1016/j.neurobiolaging.2013.03.003

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Article

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.

Neurobiology of aging - 1 Sept 2013

Jones Ashley R, Woollacott Ione, Shatunov Aleksey, Cooper-Knock Johnathan, Buchman Vladimir, Sproviero William, Smith Bradley, Scott Kirsten M, Balendra Rubika, Abel Olubunmi, McGuffin Peter, Ellis Catherine M, Shaw Pamela J, Morrison Karen E, Farmer Anne, Lewis Cathryn M, Leigh P Nigel, Shaw Christopher E, Powell John F, Al-Chalabi Ammar

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons. Single-nucleotide polymorphism rs3849942 is associated with ALS, tagging a hexanucleotide repeat mutation in the C9orf72 gene. It is possible that there is more than 1 disease-causing genetic variation at this locus, in which case association might remain after removal of cases carrying the mutation. DNA from patients with ALS...

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PMID: 23587638
DOI: 10.1016/j.neurobiolaging.2013.03.003
PMCID: PMC3753508

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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