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Screening for spinocerebellar ataxia type 36 (SCA36) in the Greek population.

作者信息

Katsimpouris D, Kartanou C, Breza M, Panas M, Koutsis G, Karadima G

机构信息

Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece.

Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece.

出版信息

J Neurol Sci. 2019 Jul 15;402:131-132. doi: 10.1016/j.jns.2019.05.022. Epub 2019 May 22.

DOI:10.1016/j.jns.2019.05.022
PMID:31132534
Abstract
摘要

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Repeat expansions in are a cause of spinocerebellar ataxia Type 36 in the British population.在英国人群中,[原文此处未明确具体基因或区域]的重复扩增是36型脊髓小脑共济失调的一个病因。
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Genetic Movement Disorders Commonly Seen in Asians.
亚洲人常见的遗传性运动障碍
Mov Disord Clin Pract. 2023 May 8;10(6):878-895. doi: 10.1002/mdc3.13737. eCollection 2023 Jun.
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Spinocerebellar Ataxia 36: From Mutations Toward Therapies.脊髓小脑共济失调36型:从突变到治疗
Front Genet. 2022 Mar 4;13:837690. doi: 10.3389/fgene.2022.837690. eCollection 2022.