Literature DB >> 21538522

THAP1 mutations are infrequent in spasmodic dysphonia.

Justus L Groen, Eren Yildirim, Katja Ritz, Frank Baas, Jacobus J van Hilten, Freerk W van der Meulen, Ton P Langeveld, Marina A J Tijssen.   

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Year:  2011        PMID： 21538522     DOI： 10.1002/mds.23682

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


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  6 in total

1.  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

Review 2.  The Patho-Neurophysiological Basis and Treatment of Focal Laryngeal Dystonia: A Narrative Review and Two Case Reports Applying TMS over the Laryngeal Motor Cortex.

Authors:  Maja Rogić Vidaković; Ivana Gunjača; Josipa Bukić; Vana Košta; Joško Šoda; Ivan Konstantinović; Braco Bošković; Irena Bilić; Nikolina Režić Mužinić
Journal:  J Clin Med       Date:  2022-06-15       Impact factor: 4.964

3.  Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

Authors:  Claudio M de Gusmão; Tania Fuchs; Andrew Moses; Trisha Multhaupt-Buell; Phillip C Song; Laurie J Ozelius; Ramon A Franco; Nutan Sharma
Journal:  Otolaryngol Head Neck Surg       Date:  2016-05-17       Impact factor: 3.497

Review 4.  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

5.  A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.

Authors:  Satya R Vemula; Jianfeng Xiao; Yu Zhao; Robert W Bastian; Joel S Perlmutter; Brad A Racette; Randal C Paniello; Zbigniew K Wszolek; Ryan J Uitti; Jay A Van Gerpen; Peter Hedera; Daniel D Truong; Andrew Blitzer; Monika Rudzińska; Dragana Momčilović; Hyder A Jinnah; Karen Frei; Ronald F Pfeiffer; Mark S LeDoux
Journal:  Mol Genet Genomic Med       Date:  2014-02-11       Impact factor: 2.183

Review 6.  Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.

Authors:  Vasileios Siokas; Athina-Maria Aloizou; Zisis Tsouris; Amalia Michalopoulou; Alexios-Fotios A Mentis; Efthimios Dardiotis
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2019-01-09
  6 in total

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