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Article

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Mar 2014

Byrne Susan, Heverin Mark, Elamin Marwa, Walsh Cathal, Hardiman Orla

Abstract excerpt

An expanded hexanucleotide repeat in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia. All studies to date state that patients have a pathological expansion if they carry 30 or more repeats. We analysed the frequency of C9orf72 repeat expansions in a population based cohort of patients with ALS, and demonstrate that patients with between 20 and 30 repeats are phenotypically similar to...

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Identifiers

PMID: 24053774
DOI: 10.3109/21678421.2013.838586

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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