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Article

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

Brain : a journal of neurology - 1 Mar 2012

Cooper-Knock Johnathan, Hewitt Christopher, Highley J Robin, Brockington Alice, Milano Antonio, Man Somai, Martindale Joanne, Hartley Judith, Walsh Theresa, Gelsthorpe Catherine, Baxter Lynne, Forster Gillian, Fox Melanie, Bury Joanna, Mok Kin, McDermott Christopher J, Traynor Bryan J, Kirby Janine, Wharton Stephen B, Ince Paul G, Hardy John, Shaw Pamela J

Abstract excerpt

Intronic expansion of the GGGGCC hexanucleotide repeat within the C9ORF72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in both familial and sporadic cases. Initial reports indicate that this variant within the frontotemporal dementia/amyotrophic lateral sclerosis spectrum is associated with transactive response DNA binding protein (TDP-43) proteinopathy. The...

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Identifiers

PMID: 22366792
DOI: 10.1093/brain/awr365
PMCID: PMC3286332

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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