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Dokumenttyp:
journal article 
Autor(en):
Söhn, AS; Glöckle, N; Doetzer, AD; Deuschl, G; Felbor, U; Topka, HR; Schöls, L; Riess, O; Bauer, P; Müller, U; Grundmann, K 
Titel:
Prevalence of THAP1 sequence variants in German patients with primary dystonia. 
Abstract:
Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the TOR1A gene. Only recently, mutations in THAP1 have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various forms of dystonia for sequence variants in the THAP1 gene by means of high resolution...    »
 
Zeitschriftentitel:
Mov Disord 
Jahr:
2010 
Band / Volume:
25 
Heft / Issue:
12 
Seitenangaben Beitrag:
1982-6 
Sprache:
eng 
Print-ISSN:
0885-3185 
TUM Einrichtung:
Neurologische Klinik und Poliklinik