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Dokumenttyp:
journal 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 
Titel:
Large-scale TUBB4A mutational screening in isolated dystonia and controls. 
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 
Print-ISSN:
1353-8020 
TUM Einrichtung:
Neurologische Klinik und Poliklinik; Hals-, Nasen-, Ohrenklinik und Poliklinik; Lehrstuhl für Neurogenetik