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Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias.

Parkinsonism & related disorders - 1 Aug 2021

Wan Na, Chen Zhao, Wan Linlin, Yuan Hongyu, Tang Zhichao, Liu Mingjie, Peng Yun, Peng Linliu, Lei Lijing, Xie Yue, Deng Qi, Wang Shang, Wang Chunrong, Peng Huirong, Hou Xuan, Shi Yuting, Long Zhe, Qiu Rong, Xia Kun, Tang Beisha, Jiang Hong

Abstract excerpt

INTRODUCTION: Hereditary ataxias demonstrate a high degree of clinical and genetic heterogeneity. Understanding the genetic etiology of hereditary ataxias is crucial for genetic counseling and clinical management. METHODS: The clinical and genetic data of patients with familial or sporadic ataxias who referred to our tertiary medical center were retrospectively analyzed. Probands in this study underwent SCA...

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PMID: 34284285
DOI: 10.1016/j.parkreldis.2021.07.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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