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Article

An autopsy case of familial amyotrophic lateral sclerosis with a TARDBP Q343R mutation.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Oct 2015

Okamoto Koichi, Fujita Yukio, Hoshino Eri, Tamura Yuhji, Fukuda Toshio, Hasegawa Masato, Takatama Masamitsu

Abstract excerpt

We describe a Japanese autopsy case of familial amyotrophic lateral sclerosis (FALS) with a TARDBP Q343R mutation. This male patient developed dysarthria at the age of 52 years, and bulbar symptoms progressed, with weakness and atrophy in the extremities. His mental status was normal, but he became bedridden, received artificial respiratory support at 54 years of age, and gradually acquired a locked-in state and...

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Identifiers

PMID: 26096467
DOI: 10.1111/neup.12209

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TARDBP

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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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