✦ LIBER ✦

Novel THAP1 gene mutations in patients with primary dystonia from Southwest China

✍ Scribed by Wei Song; YongPing Chen; Rui Huang; Ke Chen; PingLei Pan; Yuan Yang; Hui-Fang Shang

Book ID: 119304211
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 288 KB
Volume: 309
Category: Article
ISSN: 0022-510X
DOI: 10.1016/j.jns.2011.07.023

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation screening of the DYT6/THAP1gene

Mutation screening of the DYT6/THAP1gene in Serbian patients with primary dystonia

✍ Valerija S. Dobričić, Nikola D. Kresojević, Marina V. Svetel… 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 203 KB

3.065 A NOVEL MISSENSE MUTATION IN THAP1

3.065 A NOVEL MISSENSE MUTATION IN THAP1 IN TWO AUSTRALIAN PATIENTS WITH PRIMARY DYSTONIA

✍ J.R.B. Newman; R.S. Boyle; A.C. Lehn; G.D. Mellick 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 60 KB

Mutational screening of THAP1 in a Germa

Mutational screening of THAP1 in a German population with primary dystonia

✍ Maria Kaffe; Nadine Gross; Florian Castrop; Christian Dresel; Christian Gieger; 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 109 KB

Mutations in the THAP1 gene are responsi

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

✍ Fuchs, Tania; Gavarini, Sophie; Saunders-Pullman, Rachel; Raymond, Deborah; Ehrl 📂 Article 📅 2009 🏛 Nature Publishing Group 🌐 English ⚖ 264 KB

Mutation screening of GNAL gene in patie

Mutation screening of GNAL gene in patients with primary dystonia from Northeast China

✍ Miao, Jing; Wan, Xin-Hua; Sun, Yuan; Feng, Jia-Chun; Cheng, Fu-Bo 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 358 KB

Prevalence of THAP1 sequence variants in

Prevalence of THAP1 sequence variants in German patients with primary dystonia

✍ Anne S. Söhn; Nicola Glöckle; Andrea Duarte Doetzer; Günther Deuschl; Ute Felbor 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 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