由新型TGM6变异导致的35型脊髓小脑共济失调：一个德国家庭的视频记录 - Suppr

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Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.

作者信息

Maass Fabian, Jamous Ala, Biskup Saskia, Eisenberg Hanna, D'Hedouville Zara, Bähr Mathias, van Riesen Christoph

机构信息

Department of Neurology University Medical Center Göttingen Göttingen Germany.

Department of Neuroradiology University Medical Center Göttingen Göttingen Germany.

出版信息

Mov Disord Clin Pract. 2023 Mar 27;10(6):1016-1019. doi: 10.1002/mdc3.13717. eCollection 2023 Jun.

DOI:10.1002/mdc3.13717

PMID:37332650

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10272897/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ccb/10272897/3a7ee4c85b77/MDC3-10-1016-g001.jpg

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J Neurosci Rural Pract. 2021 Sep 20;12(4):656-665. doi: 10.1055/s-0041-1734006. eCollection 2021 Oct.

Gene. 2021 May 5;779:145495. doi: 10.1016/j.gene.2021.145495. Epub 2021 Feb 13.

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.迟发性小脑共济失调伴罕见 TGM6（SCA35）突变 p.R342W 的病例报告。

BMC Neurol. 2020 Nov 7;20(1):408. doi: 10.1186/s12883-020-01964-1.

Parkinsonism Relat Disord. 2019 Jun;63:42-45. doi: 10.1016/j.parkreldis.2019.01.013. Epub 2019 Jan 17.

Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.遗传性小脑共济失调 35 型（SCA35）伴新型移码突变

Cerebellum. 2019 Apr;18(2):291-294. doi: 10.1007/s12311-018-0978-6.

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.外显子组测序和网络分析确定了脊髓小脑共济失调的共同发病机制。

Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251.

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A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.桑格测序和外显子组测序在诊断异质性疾病中的效用的事后比较。

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J Neurol. 2013 Mar;260(3):927-8. doi: 10.1007/s00415-012-6830-x. Epub 2013 Jan 25.

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