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Article

FUS-associated ALS in Taiwan: genetic spectrum, clinical features, and a founder haplotype of p.H517D.

Journal of neurology - 10 Jun 2026

Sytwu Hou-Ping, Jih Kang-Yang, Tsai Yu-Sheun, Fang Shih-Yu, Liao Yi-Chu, Lee Yi-Chung

Abstract excerpt

OBJECTIVE: To characterize the genetic spectrum and clinical features of FUS-associated amyotrophic lateral sclerosis (ALS) in a Taiwanese cohort and to investigate whether the recurrent p.H517D variant represents a founder mutation. METHODS: All coding exons and flanking intronic regions of FUS were analyzed by Sanger sequencing in 650 unrelated Taiwanese patients with ALS. Clinical characteristics of patients...

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Identifiers

PMID: 42268433
DOI: 10.1007/s00415-026-13929-4
PMCID: PMC13253602

Genes

FUS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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