Mutation screening of the DYT6/THAP1 gene in Italy-Reference-Cited by-同舟云学术

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Mutation screening of the DYT6/THAP1 gene in Italy

Published:2009-11-11 Issue:16 Volume:24 Page:2424-2427
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov. Disord.

Author:

Bonetti Monica,Barzaghi Chiara,Brancati Francesco,Ferraris Alessandro,Bellacchio Emanuele,Giovanetti Alessandro,Ialongo Tamara,Zorzi Giovanna,Piano Carla,Petracca Martina,Albanese Alberto,Nardocci Nardo,Dallapiccola Bruno,Bentivoglio Anna Rita,Garavaglia Barbara,Valente Enza Maria

Funder

Italian Ministry of Health

Fondazione Livio Patrizi and Transgenomics

Bank for the diagnosis and research of Movement Disorders

EuroBioBank network

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.22861/fullpdf

Reference12 articles.

1. The monogenic primary dystonias;Müller;Brain,2009

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

3. The role of DYT1 inprimary torsion dystonia in Europe;Valente;Brain,1998

4. The DYT1 phenotype and guidelines for diagnostic testing;Bressman;Neurology,2000

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

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein;Journal of Molecular Neuroscience;2017-03-15

2. Diagnosis and Treatment of Laryngeal Dystonia: Past, Present and Future Directions;TREMOR OTHER HYPERK;2016

3. Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation;Journal of Neurology;2015-10-20

4. Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions;PLOS ONE;2015-06-18

5. High variability of clinical symptoms in a Polish family with a novelTHAP1mutation;International Journal of Neuroscience;2014-11-11

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