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Title:

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

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
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:
4
Pages contribution:
549-559
Language:
eng
Fulltext / DOI:
doi:10.1002/mds.26808
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/27666935
Print-ISSN:
0885-3185
TUM Institution:
Institut für Humangenetik; Neurologische Klinik und Poliklinik
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