Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up-Reference-Cited by-同舟云学术

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up

Published:2016-09-26 Issue:4 Volume:32 Page:549-559
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Zech Michael¹²,Boesch Sylvia³,Jochim Angela²,Weber Sandrina¹,Meindl Tobias²,Schormair Barbara¹,Wieland Thomas⁴,Lunetta Christian⁵,Sansone Valeria⁶⁷,Messner Michael⁸,Mueller Joerg³⁹,Ceballos-Baumann Andres²⁸,Strom Tim M.⁴¹⁰,Colombo Roberto¹¹¹²,Poewe Werner³,Haslinger Bernhard²,Winkelmann Juliane¹²¹³¹⁴

Affiliation:

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

2. Klinik und Poliklinik für Neurologie, Klinikum rechts der lsar, Technische Universität München; Munich Germany

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

4. Institut für Humangenetik, Helmholtz Zentrum München; Munich Germany

5. Neuromuscular Omnicentre Sud (NEMO SUD), Fondazione Aurora Onlus; Messina Italy

6. Neuromuscular Omnicentre (NEMO), Fondazione Serena Onlus; Milan Italy

7. Department of Biochemical Sciences for Health; University of Milan; Milan Italy

8. Schön Klinik München Schwabing; Munich Germany

9. Vivantes Klinikum Spandau; Berlin Germany

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

11. Institute of Clinical Biochemistry; Catholic University; Rome Italy

12. Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital; Milan Italy

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

14. Institute of Human Genetics, Klinikum rechts der Isar; Technical University Munich; Munich Germany

Funder

Else Kröner-Fresenius-Stiftung

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference46 articles.

1. Phenomenology and classification of dystonia: a consensus update;Albanese;Mov Disord,2013

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

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

4. Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing;Domingo;Mov Disord,2016

5. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm;Egmond;J Neurol Neurosurg Psychiatry,2015

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