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Mutational screening of THAP1 in a German population with primary dystonia

✍ Scribed by Maria Kaffe; Nadine Gross; Florian Castrop; Christian Dresel; Christian Gieger; Peter Lichtner; Bernhard Haslinger; Juliane Winkelmann

Book ID
116821031
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
109 KB
Volume
18
Category
Article
ISSN
1353-8020

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πŸ“œ SIMILAR VOLUMES

Prevalence of THAP1 sequence variants in
Prevalence of THAP1 sequence variants in German patients with primary dystonia
✍ Anne S. SΓΆhn; Nicola GlΓΆckle; Andrea Duarte Doetzer; GΓΌnther Deuschl; Ute Felbor πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 639 KB

## 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

Screening of Brazilian families with pri
Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion
✍ Patricia De Carvalho Aguiar; Tania Fuchs; Vanderci Borges; Kay-Marie Lamar; Soni πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 958 KB

## Abstract The __TOR1A__ and __THAP1__ genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the __TOR1A__ gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in __T