TOR1A, THAP1, andGNALmutational screening in Austrian patients with primary isolated dystonia-Reference-Cited by-同舟云学术

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TOR1A, THAP1, andGNALmutational screening in Austrian patients with primary isolated dystonia

Published:2015-10-28 Issue:13 Volume:30 Page:1853-1854
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Zech Michael¹²,Boesch Sylvia³,Sycha Thomas⁴,Mueller Joerg³⁵,Poewe Werner³,Winkelmann Juliane¹²⁶

Affiliation:

1. Neurologische Klinik und Poliklinik, Klinikum rechts der Isar; Technische Universität München; Munich Germany

2. Institut für Neurogenomik; Helmholtz Zentrum München; Munich Germany

3. Department of Neurology; Medical University Innsbruck; Innsbruck Austria

4. Department of Neurology; Medical University Vienna; Vienna Austria

5. Vivantes Klinikum Spandau; Berlin Germany

6. Munich Cluster for Systems Neurology, SyNergy; Munich Germany

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference7 articles.

1. Genetics in dystonia;Klein;Parkinsonism Relat Disord,2014

2. Dystonia: an update on phenomenology, classification, pathogenesis and treatment;Balint;Curr Opin Neurol,2014

3. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls;Zech;Mov Disord,2014

4. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1);Zirn;J Neurol Neurosurg Psychiatry,2008

5. Mutations in GNAL cause primary torsion dystonia;Fuchs;Nat Genet,2013

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1. Novel findings in a Swedish primary familial brain calcification cohort;Journal of the Neurological Sciences;2024-05

2. Unusual Movement Disorders;Movement Disorders Phenomenology;2024

3. Isolated dystonia: clinical and genetic updates;Journal of Neural Transmission;2020-11-27

4. COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature;Brain and Development;2020-04

5. Dystonia; a roadmap is needed for future genetic studies;Parkinsonism & Related Disorders;2019-01

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