Literature DB >> 19908320

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.

Coro Paisán-Ruiz, Javier Ruiz-Martinez, Marta Ruibal, Kin Y Mok, Begona Indakoetxea, Ana Gorostidi, José F Martí Massó.   

Abstract

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Year:  2009        PMID： 19908320     DOI： 10.1002/mds.22849

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


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  17 in total

Review 1.  Genetic and clinical features of primary torsion dystonia.

Authors:  Laurie J Ozelius; Susan B Bressman
Journal:  Neurobiol Dis       Date:  2010-12-17       Impact factor: 5.996

Review 2.  Inherited isolated dystonia: clinical genetics and gene function.

Authors:  William Dauer
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

3.  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

4.  The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.

Authors:  Jianfeng Xiao; Yu Zhao; Robert W Bastian; Joel S Perlmutter; Brad A Racette; Samer D Tabbal; Morvarid Karimi; Randal C Paniello; Zbigniew K Wszolek; Ryan J Uitti; Jay A Van Gerpen; David K Simon; Daniel Tarsy; Peter Hedera; Daniel D Truong; Karen P Frei; Andrew Blitzer; Monika Rudzińska; Ronald F Pfeiffer; Carrie Le; Mark S LeDoux
Journal:  Mov Disord       Date:  2011-03-02       Impact factor: 10.338

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.  Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.

Authors:  Sophie Gavarini; Corinne Cayrol; Tania Fuchs; Natalia Lyons; Michelle E Ehrlich; Jean-Philippe Girard; Laurie J Ozelius
Journal:  Ann Neurol       Date:  2010-10       Impact factor: 10.422

7.  THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

Authors:  Fu Bo Cheng; Laurie J Ozelius; Xin Hua Wan; Jia Chun Feng; Ling Yan Ma; Ying Mai Yang; Lin Wang
Journal:  J Neurol       Date:  2011-07-29       Impact factor: 4.849

Review 8.  Molecular pathways in dystonia.

Authors:  D Cristopher Bragg; Ioanna A Armata; Flavia C Nery; Xandra O Breakefield; Nutan Sharma
Journal:  Neurobiol Dis       Date:  2010-12-04       Impact factor: 5.996

9.  Advances in the genetics of primary torsion dystonia.

Authors:  Enza Maria Valente; Alberto Albanese
Journal:  F1000 Biol Rep       Date:  2010-06-16

Review 10.  The focal dystonias: current views and challenges for future research.

Authors:  H A Jinnah; Alfredo Berardelli; Cynthia Comella; Giovanni Defazio; Mahlon R Delong; Stewart Factor; Wendy R Galpern; Mark Hallett; Christy L Ludlow; Joel S Perlmutter; Ami R Rosen
Journal:  Mov Disord       Date:  2013-06-15       Impact factor: 10.338
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