Literature DB >> 20629133

Adult-onset leg dystonia due to a missense mutation in THAP1.

Jay A Van Gerpen, Mark S Ledoux, Zbigniew K Wszolek.   

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Year:  2010        PMID： 20629133      PMCID： PMC3902655          DOI： 10.1002/mds.23086

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


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  6 in total

Review 1.  Can peripheral trauma induce dystonia and other movement disorders? Yes!

Authors:  J Jankovic
Journal:  Mov Disord       Date:  2001-01       Impact factor: 10.338

Review 2.  The hand that has forgotten its cunning--lessons from musicians' hand dystonia.

Authors:  Anna M Conti; Seth Pullman; Steven J Frucht
Journal:  Mov Disord       Date:  2008-07-30       Impact factor: 10.338

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

Authors:  Tania Fuchs; Sophie Gavarini; Rachel Saunders-Pullman; Deborah Raymond; Michelle E Ehrlich; Susan B Bressman; Laurie J Ozelius
Journal:  Nat Genet       Date:  2009-02-01       Impact factor: 38.330

4.  Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.

Authors:  Susan B Bressman; Deborah Raymond; Tania Fuchs; Gary A Heiman; Laurie J Ozelius; Rachel Saunders-Pullman
Journal:  Lancet Neurol       Date:  2009-04-01       Impact factor: 44.182

5.  The spectrum of disorders presenting as adult-onset focal lower extremity dystonia.

Authors:  Andrew McKeon; Joseph Y Matsumoto; James H Bower; J Eric Ahlskog
Journal:  Parkinsonism Relat Disord       Date:  2008-03-07       Impact factor: 4.891

Review 6.  Dystonia: clinical approach.

Authors:  Alberto Albanese
Journal:  Parkinsonism Relat Disord       Date:  2007       Impact factor: 4.891
  6 in total
  10 in total

Review 1.  Dystonia: phenomenology.

Authors:  Mark S LeDoux
Journal:  Parkinsonism Relat Disord       Date:  2012-01       Impact factor: 4.891

Review 2.  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

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.  An African-American family with dystonia.

Authors:  Andreas Puschmann; Jianfeng Xiao; Robert W Bastian; Jill A Searcy; Mark S LeDoux; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2011-05-20       Impact factor: 4.891

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.  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 7.  The genetics of dystonias.

Authors:  Mark S LeDoux
Journal:  Adv Genet       Date:  2012       Impact factor: 1.944

Review 8.  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

Review 9.  THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.

Authors:  Georgia Xiromerisiou; Henry Houlden; Nikolaos Scarmeas; Maria Stamelou; Eleanna Kara; John Hardy; Andrew J Lees; Prasad Korlipara; Patricia Limousin; Reema Paudel; Georgios M Hadjigeorgiou; Kailash P Bhatia
Journal:  Mov Disord       Date:  2012-08-17       Impact factor: 10.338

10.  Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Authors:  Selina Wray; Matthew Self; Patrick A Lewis; Jan-Willem Taanman; Natalie S Ryan; Colin J Mahoney; Yuying Liang; Michael J Devine; Una-Marie Sheerin; Henry Houlden; Huw R Morris; Daniel Healy; Jose-Felix Marti-Masso; Elisavet Preza; Suzanne Barker; Margaret Sutherland; Roderick A Corriveau; Michael D'Andrea; Anthony H V Schapira; Ryan J Uitti; Mark Guttman; Grzegorz Opala; Barbara Jasinska-Myga; Andreas Puschmann; Christer Nilsson; Alberto J Espay; Jaroslaw Slawek; Ludwig Gutmann; Bradley F Boeve; Kevin Boylan; A Jon Stoessl; Owen A Ross; Nicholas J Maragakis; Jay Van Gerpen; Melissa Gerstenhaber; Katrina Gwinn; Ted M Dawson; Ole Isacson; Karen S Marder; Lorraine N Clark; Serge E Przedborski; Steven Finkbeiner; Jeffrey D Rothstein; Zbigniew K Wszolek; Martin N Rossor; John Hardy
Journal:  PLoS One       Date:  2012-08-27       Impact factor: 3.240
  10 in total

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