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Article

Clinical and pathological studies of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R mutation in large Japanese families.

Acta neuropathologica - 1 Dec 2003

Arisato Takayo, Okubo Ryuichi, Arata Hitoshi, Abe Koji, Fukada Kei, Sakoda Saburo, Shimizu Akira, Qin Xing Hui, Izumo Shuji, Osame Mitsuhiro, Nakagawa Masanori

Abstract excerpt

We clarified the clinical and pathological aspects of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R heterozygous mutation in the Miyakonojo Basin, a region in southern Japan where the prevalence of ALS is 11.4 per 10(5) of the population. We studied 17 patients, including one autop...

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PMID: 14517684
DOI: 10.1007/s00401-003-0763-5

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SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14517684-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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