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Article

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.

Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2013

Konno Takuya, Shiga Atsushi, Tsujino Akira, Sugai Akihiro, Kato Taisuke, Kanai Kazuaki, Yokoseki Akio, Eguchi Hiroto, Kuwabara Satoshi, Nishizawa Masatoyo, Takahashi Hitoshi, Onodera Osamu

Abstract excerpt

BACKGROUND: A GGGGCC hexanucleotide repeat expansion in C9ORF72 occurs on a chromosome 9p21 locus that is linked with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in white populations. The diseases resulting from this expansion are referred to as 'c9FTD/ALS'. It has been suggested that c9FTD/ALS arose from a single founder. However, the existence of c9FTD/ALS in non-white populations has...

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Identifiers

PMID: 23012445
DOI: 10.1136/jnnp-2012-302272

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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