Combined occurrence of a novelTOR1Aand aTHAP1mutation in primary dystonia-Reference-Cited by-同舟云学术

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Combined occurrence of a novelTOR1Aand aTHAP1mutation in primary dystonia

Published:2014-05-23 Issue:8 Volume:29 Page:1079-1083
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Cheng Fu-Bo¹²,Feng Jia-Chun²,Ma Ling-Yan³,Miao Jing²,Ott Thomas¹,Wan Xin-Hua³,Grundmann Kathrin¹

Affiliation:

1. Department of Medical Genetics; University of Tuebingen; 72076 Germany

2. Department of Neurology; the First Hospital of Jilin University; Changchun PR China

3. Department of Neurology; Peking Union Medical College Hospital, Chinese Academy of Medical Sciences; Beijing PR China

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference23 articles.

1. Genetics in dystonia: an update;Fuchs;Curr Neurol Neurosci Rep,2013

2. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein;Ozelius;Nat Genet,1997

3. Muntaions in the THAP1 gene are responsible for DYT6 primary torsion dystonia;Fuchs;Nat Genet,2009

4. Mutations in CIZ1 cause adult onset primary cervical dystonia;Xiao;Ann Neurol,2012

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1. Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo;Science Advances;2022-11-25

2. Cerebellum Involvement in Dystonia During Associative Motor Learning: Insights From a Data-Driven Spiking Network Model;Frontiers in Systems Neuroscience;2022-06-16

3. Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness;Brain and Development;2021-08

4. Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family;Frontiers in Genetics;2021-07-02

5. Investigating the role of striatal dopamine receptor 2 in motor coordination and balance: Insights into the pathogenesis of DYT1 dystonia;Behavioural Brain Research;2021-04

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