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Article

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p.

Acta neuropathologica - 1 Mar 2012

Stewart Heather, Rutherford Nicola J, Briemberg Hannah, Krieger Charles, Cashman Neil, Fabros Marife, Baker Matt, Fok Alice, DeJesus-Hernandez Mariely, Eisen Andrew, Rademakers Rosa, Mackenzie Ian R A

Abstract excerpt

Two studies recently identified a GGGGCC hexanucleotide repeat expansion in a non-coding region of the chromosome 9 open-reading frame 72 gene (C9ORF72) as the cause of chromosome 9p-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In a cohort of 231 probands with ALS...

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Identifiers

PMID: 22228244
DOI: 10.1007/s00401-011-0937-5
PMCID: PMC3322555

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22228244-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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