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Document type:
Journal Article; Article 
Author(s):
Zech, Michael; Boesch, Sylvia; Jochim, Angela; Weber, Sandrina; Meindl, Tobias; Schormair, Barbara; Wieland, Thomas; Lunetta, Christian; Sansone, Valeria; Messner, Michael; Mueller, Joerg; Ceballos-Baumann, Andres; Strom, Tim M; Colombo, Roberto; Poewe, Werner; Haslinger, Bernhard; Winkelmann, Juliane 
Title:
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. 
Abstract:
Dystonia is clinically and genetically heterogeneous. Despite being a first-line testing tool for heterogeneous inherited disorders, whole-exome sequencing has not yet been evaluated in dystonia diagnostics. We set up a pilot study to address the yield of whole-exome sequencing for early-onset generalized dystonia, a disease subtype enriched for monogenic causation.Clinical whole-exome sequencing coupled with bioinformatics analysis and detailed phenotyping of mutation carriers was performed on...    »
 
Journal title abbreviation:
Mov Disord 
Year:
2017 
Journal volume:
32 
Journal issue:
Pages contribution:
549-559 
Language:
eng 
Fulltext / DOI:
Print-ISSN:
0885-3185 
TUM Institution:
Institut für Humangenetik; Neurologische Klinik und Poliklinik