Amyotrophic lateral sclerosis & frontotemporal degeneration
SOD1 mutations in Taiwanese ALS patients: Clinical characteristics, frequency, and a p.T138R founder effect.
Kang-Yang Jih, Yu-Sheun Tsai, Shih-Yu Fang, Fang-Chi Hsu, Hou-Ping Sytwu, Yi-Chu Liao, Pei-Chien Tsai, Yi-Chung Lee
Published: 202510.1080/21678421.2025.2604236
Abstract
OBJECTIVE: Mutations in SOD1 are a well-established genetic cause of amyotrophic lateral sclerosis (ALS), exerting toxic gain-of-function effects that promote protein misfolding and aggregation in motor neurons and glial cells. The emergence of SOD1-…
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