Literature DB >> 21425341

DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.

Robert Jech, Martin Bareš, Anna Křepelová, Dušan Urgošík, Petra Havránková, Evžen Růžička.   

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Year:  2011        PMID： 21425341     DOI： 10.1002/mds.23599

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  9 in total

Review 1.  Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

Authors:  Mark S LeDoux; Jianfeng Xiao; Monika Rudzińska; Robert W Bastian; Zbigniew K Wszolek; Jay A Van Gerpen; Andreas Puschmann; Dragana Momčilović; Satya R Vemula; Yu Zhao
Journal:  Parkinsonism Relat Disord       Date:  2012-02-28       Impact factor: 4.891

2.  Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.

Authors:  Cem Sengel; Sophie Gavarini; Nutan Sharma; Laurie J Ozelius; D Cristopher Bragg
Journal:  J Neurochem       Date:  2011-08-08       Impact factor: 5.372

3.  Pallidal Deep Brain Stimulation in DYT6: Significant Long-Term Improvement of Dystonia and Disability.

Authors:  Sara França; João Massano; Paulo Linhares; Maria José Rosas; Jens Volkmann
Journal:  Mov Disord Clin Pract       Date:  2014-05-15

4.  Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation.

Authors:  P Krause; N Brüggemann; S Völzmann; A Horn; A Kupsch; G-H Schneider; K Lohmann; A Kühn
Journal:  J Neurol       Date:  2015-10-20       Impact factor: 4.849

5.  Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.

Authors:  Rachel Saunders-Pullman; Tania Fuchs; Marta San Luciano; Deborah Raymond; Alison Brashear; Robert Ortega; Andres Deik; Laurie J Ozelius; Susan B Bressman
Journal:  Mov Disord       Date:  2014-02-05       Impact factor: 10.338

6.  Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia.

Authors:  Valerija S Dobričić; Nikola D Kresojević; Marina V Svetel; Milena Z Janković; Igor N Petrović; Aleksandra D Tomić; Ivana V Novaković; Vladimir S Kostić
Journal:  J Neurol       Date:  2012-11-20       Impact factor: 4.849

7.  Pallidal deep brain stimulation for the treatment of DYT6 dystonia: a case report and review of literature.

Authors:  Shahnaz Miri; Gholam Ali Shahidi; Mansour Parvaresh; Mohammad Rohani
Journal:  Med J Islam Repub Iran       Date:  2014-06-01

8.  Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.

Authors:  Annika Danielsson; Miryam Carecchio; Laura Cif; Anne Koy; Jean-Pierre Lin; Göran Solders; Luigi Romito; Katja Lohmann; Barbara Garavaglia; Chiara Reale; Giovanna Zorzi; Nardo Nardocci; Philippe Coubes; Victoria Gonzalez; Agathe Roubertie; Gwenaelle Collod-Beroud; Göran Lind; Kristina Tedroff
Journal:  J Clin Med       Date:  2019-12-06       Impact factor: 4.241

9.  A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.

Authors:  M Grofik; M Cibulka; J Olekšáková; M Turčanová Koprušáková; T Galanda; J Necpál; P Jungová; E Kurča; J Winkelmann; M Zech; R Jech
Journal:  BMC Neurol       Date:  2022-09-12       Impact factor: 2.903
  9 in total

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