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Article

TARDBP variants in Taiwanese ALS patients: Genetic spectrum, clinical features, and founder effects.

Journal of the neurological sciences - 15 Jul 2025

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

Abstract excerpt

BACKGROUND: TARDBP is one of the most commonly implicated genes in amyotrophic lateral sclerosis (ALS). It encodes TAR DNA-binding protein 43 (TDP-43), a protein critical to ALS pathology, whose pathogenic variants disrupt its nuclear-cytoplasmic translocation, leading to aggregation. This study aimed to investigate the role of TARDBP variants in a Taiwanese ALS cohort. METHODS: We analyzed the coding regions of...

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Identifiers

PMID: 40373480
DOI: 10.1016/j.jns.2025.123531

Genes

TARDBP

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