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Article

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.

Acta neuropathologica - 1 Mar 2014

Woollacott Ione O C, Mead Simon

Abstract excerpt

The discovery of the C9ORF72 hexanucleotide repeat expansion in 2011 and the immediate realisation of a remarkably high prevalence in both familial and sporadic frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) triggered an explosion of interest in studies aiming to define the associated clinical and investigation phenotypes and attempts to develop technologies to measure more...

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Identifiers

PMID: 24515836
DOI: 10.1007/s00401-014-1253-7

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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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