Literature DB >> 21110056

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.

Fabienne Clot, David Grabli, Pierre Burbaud, Magali Aya, Pascal Derkinderen, Luc Defebvre, Philippe Damier, Pierre Krystkowiak, Pierre Pollak, Eric Leguern, Chan San, Agnès Camuzat, Emmanuel Roze, Marie Vidailhet, Alexandra Durr, Alexis Brice.   

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Year:  2010        PMID： 21110056     DOI： 10.1007/s10048-010-0264-3

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  6 in total

1.  DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.

Authors:  Justus L Groen; Katja Ritz; Maria Fiorella Contarino; Bart P van de Warrenburg; Majid Aramideh; Elisabeth M Foncke; Jacobus J van Hilten; P Richard Schuurman; Johannes D Speelman; Johannes H Koelman; Rob M A de Bie; Frank Baas; Marina A Tijssen
Journal:  Mov Disord       Date:  2010-10-30       Impact factor: 10.338

2.  Novel THAP1 sequence variants in primary dystonia.

Authors:  J Xiao; Y Zhao; R W Bastian; J S Perlmutter; B A Racette; S D Tabbal; M Karimi; R C Paniello; Z K Wszolek; R J Uitti; J A Van Gerpen; D K Simon; D Tarsy; P Hedera; D D Truong; K P Frei; S Dev Batish; A Blitzer; R F Pfeiffer; S Gong; M S LeDoux
Journal:  Neurology       Date:  2010-01-19       Impact factor: 9.910

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) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

Authors:  Ana Djarmati; Susanne A Schneider; Katja Lohmann; Susen Winkler; Heike Pawlack; Johann Hagenah; Norbert Brüggemann; Simone Zittel; Tania Fuchs; Aleksandar Raković; Alexander Schmidt; Hans-Christian Jabusch; Robert Wilcox; Vladimir S Kostić; Hartwig Siebner; Eckart Altenmüller; Alexander Münchau; Laurie J Ozelius; Christine Klein
Journal:  Lancet Neurol       Date:  2009-04-01       Impact factor: 44.182

5.  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

6.  THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

Authors:  H Houlden; S A Schneider; R Paudel; A Melchers; P Schwingenschuh; M Edwards; J Hardy; K P Bhatia
Journal:  Neurology       Date:  2010-03-09       Impact factor: 9.910
  6 in total
  18 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

Review 2.  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 3.  Inherited isolated dystonia: clinical genetics and gene function.

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

4.  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

5.  Identification and functional analysis of novel THAP1 mutations.

Authors:  Katja Lohmann; Nils Uflacker; Alev Erogullari; Thora Lohnau; Susen Winkler; Andreas Dendorfer; Susanne A Schneider; Alma Osmanovic; Marina Svetel; Andreas Ferbert; Simone Zittel; Andrea A Kühn; Alexander Schmidt; Eckart Altenmüller; Alexander Münchau; Christoph Kamm; Matthias Wittstock; Andreas Kupsch; Elena Moro; Jens Volkmann; Vladimir Kostic; Frank J Kaiser; Christine Klein; Norbert Brüggemann
Journal:  Eur J Hum Genet       Date:  2011-08-17       Impact factor: 4.246

6.  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

7.  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

8.  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 9.  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 10.  Isolated dystonia: clinical and genetic updates.

Authors:  Aloysius Domingo; Rachita Yadav; Laurie J Ozelius
Journal:  J Neural Transm (Vienna)       Date:  2020-11-27       Impact factor: 3.575
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