Spinocerebellar Ataxia Type 35 Caused by a New <scp>TGM6</scp> Variant: Video Documentation of a German Family-Reference-Cited by-同舟云学术

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

Published:2023-03-27 Issue:6 Volume:10 Page:1016-1019
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Maass Fabian¹^ORCID,Jamous Ala²,Biskup Saskia³,Eisenberg Hanna¹,D'Hedouville Zara¹,Bähr Mathias¹,van Riesen Christoph¹⁴^ORCID

Affiliation:

1. Department of Neurology University Medical Center Göttingen Göttingen Germany

2. Department of Neuroradiology University Medical Center Göttingen Göttingen Germany

3. CeGaT, Center for Genomics and Transcriptomics Tübingen Germany

4. Germany Center for Neurodegenerative Diseases (DZNE) Göttingen Germany

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13717

Reference12 articles.

1. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

2. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

3. Spinocerebellar ataxia 35: Novel mutations in TGM6 with clinical and genetic characterization

4. Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients

5. TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study

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