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Article

A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex.

Neuroscience bulletin - 1 Oct 2024

Liu Han-Kui, Hao Hong-Lin, You Hui, Feng Feng, Qi Xiu-Hong, Huang Xiao-Yan, Hou Bo, Tian Chang-Geng, Wang Han, Yang Huan-Ming, Wang Jian, Wu Rui, Fang Hui, Zhou Jiang-Ning, Zhang Jian-Guo, Zhang Zhen-Xin

Abstract excerpt

This study aimed to identify possible pathogenic genes in a 90-member family with a rare combination of multiple neurodegenerative disease phenotypes, which has not been depicted by the known neurodegenerative disease. We performed physical and neurological examinations with International Rating Scales to assess signs of ataxia, Parkinsonism, and cognitive function, as well as brain magnetic resonance imaging...

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Identifiers

PMID: 38869703
DOI: 10.1007/s12264-024-01231-0
PMCID: PMC11422396

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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