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Titel:

Large-scale TUBB4A mutational screening in isolated dystonia and controls.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't; Article
Autor(en):
Zech, Michael; Boesch, Sylvia; Jochim, Angela; Graf, Sebastian; Lichtner, Peter; Peters, Annette; Gieger, Christian; Mueller, Joerg; Poewe, Werner; Haslinger, Bernhard; Winkelmann, Juliane
Abstract:
Mutations in TUBB4A have recently been implicated in two seemingly different disease entities, namely DYT4-isolated dystonia and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), a disorder characterized by considerable clinical variability. While several follow-up studies confirmed the importance of TUBB4A mutations in the development of H-ABC, their contribution to isolated dystonia remains uncertain.We screened the TUBB4A coding regions in a large population of 709 iso...     »
Zeitschriftentitel:
Parkinsonism Relat Disord
Jahr:
2015
Band / Volume:
21
Heft / Issue:
10
Seitenangaben Beitrag:
1278-81
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.parkreldis.2015.08.017
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/26318963
Print-ISSN:
1353-8020
TUM Einrichtung:
Hals-Nasen-Ohrenklinik und Poliklinik; Lehrstuhl für Neurogenetik (Prof. Winkelmann); Neurologische Klinik und Poliklinik
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