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Article

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles.

Neurology - 5 Nov 2013

Cooper-Knock Johnathan, Higginbottom Adrian, Connor-Robson Natalie, Bayatti Nadhim, Bury Joanna J, Kirby Janine, Ninkina Natalia, Buchman Vladimir L, Shaw Pamela J

Abstract excerpt

Discovery of intronic hexanucleotide repeat expansions of the C9ORF72 gene in a significant proportion of patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)(1,2) was an important step for research into these disorders. The C9ORF72 genetic variant is more common than other described mutations and, unlike patients with mutations in SOD1, C9ORF72-ALS clinically and pathologically...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24107864
DOI: 10.1212/01.wnl.0000435295.41974.2e
PMCID: PMC3812108

Genes

SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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