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Article

Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.

Muscle & nerve - 1 Sept 2016

Akiyama Tetsuya, Warita Hitoshi, Kato Masaaki, Nishiyama Ayumi, Izumi Rumiko, Ikeda Chikako, Kamada Masaki, Suzuki Naoki, Aoki Masashi

Abstract excerpt

INTRODUCTION: We investigated possible genotype-phenotype correlations in Japanese patients with familial amyotrophic lateral sclerosis (FALS) carrying fused in sarcoma/translated in liposarcoma (FUS/TLS) gene mutations. METHODS: A consecutive series of 111 Japanese FALS pedigrees were screened for copper/zinc superoxide dismutase 1 (SOD1) and FUS/TLS gene mutations. Clinical data, including onset age, onset...

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Source

Identifiers

PMID: 26823199
DOI: 10.1002/mus.25061

Genes

FUS
SOD1

Provenance

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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Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.PMID 26823199Read ↗

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