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Article

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Oct 2012

Ogaki Kotaro, Li Yuanzhe, Atsuta Naoki, Tomiyama Hiroyuki, Funayama Manabu, Watanabe Hazuki, Nakamura Ryoichi, Yoshino Hideo, Yato Seiji, Tamura Asako, Naito Yutaka, Taniguchi Akira, Fujita Koji, Izumi Yuishin, Kaji Ryuji, Hattori Nobutaka, Sobue Gen

Abstract excerpt

Recently, a hexanucleotide repeat expansion in C9orf72 was identified as the most common cause of both sporadic and familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in Western populations. We analyzed 563 Japanese patients with ALS (552 sporadic and 11 familial) using fluorescent fragment-length analysis of C9orf72 and repeat-primed polymerase chain reaction analysis. Haplotype analysis...

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PMID: 22727276
DOI: 10.1016/j.neurobiolaging.2012.05.011

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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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