DYT16 revisited: Exome sequencing identifiesPRKRAmutations in a European dystonia family-Reference-Cited by-同舟云学术

DYT16 revisited: Exome sequencing identifiesPRKRAmutations in a European dystonia family

Published:2014-08-20 Issue:12 Volume:29 Page:1504-1510
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Zech Michael¹²,Castrop Florian¹,Schormair Barbara¹²³,Jochim Angela¹,Wieland Thomas²,Gross Nadine¹,Lichtner Peter²³,Peters Annette⁴,Gieger Christian⁵,Meitinger Thomas²³⁶,Strom Tim M.²³,Oexle Konrad²³,Haslinger Bernhard¹,Winkelmann Juliane¹²³⁶⁷

Affiliation:

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

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

3. Institut für Humangenetik, Technische Universität München; Munich Germany

4. Institute of Epidemiology II, Helmholtz Zentrum München; Munich Germany

5. Institute of Genetic Epidemiology, Helmholtz Zentrum München; Munich Germany

6. Munich Cluster for Systems Neurology; SyNergy Munich Germany

7. Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine; Stanford University School of Medicine; Palo Alto California USA

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference26 articles.

1. The genetics of dystonia: new twists in an old tale;Charlesworth;Brain,2013

2. Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis;Phukan;Lancet Neurol,2011

3. Genetic and clinical features of primary torsion dystonia;Ozelius;Neurobiol Dis,2011

4. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA;Camargos;Lancet Neurol,2008

5. DYT16: the original cases;Camargos;J Neurol Neurosurg Psychiatry,2012

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