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There are 5132 results for: content related to: Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia

  1. Anticholinergic drugs rescue synaptic plasticity in DYT1 dystonia: Role of M1 muscarinic receptors

    Movement Disorders

    Volume 29, Issue 13, November 2014, Pages: 1655–1665, Marta Maltese, Giuseppina Martella, Graziella Madeo, Irene Fagiolo, Annalisa Tassone, Giulia Ponterio, Giuseppe Sciamanna, Pierre Burbaud, P. Jeffrey Conn, Paola Bonsi and Antonio Pisani

    Article first published online : 4 SEP 2014, DOI: 10.1002/mds.26009

  2. The focal dystonias: Current views and challenges for future research

    Movement Disorders

    Volume 28, Issue 7, 15 June 2013, Pages: 926–943, 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 and for the Dystonia Coalition Investigators

    Article first published online : 25 JUL 2013, DOI: 10.1002/mds.25567

  3. Is TOR1A a risk factor in adult-onset primary torsion dystonia?

    Movement Disorders

    Volume 28, Issue 6, June 2013, Pages: 827–831, Justus L. Groen, Katja Ritz, Michael W. Tanck, Bart P. van de Warrenburg, Jacobus J. van Hilten, Majid Aramideh, Frank Baas and Marina A. J. Tijssen

    Article first published online : 4 MAR 2013, DOI: 10.1002/mds.25381

  4. Heterogeneity in primary dystonia: Lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites

    Movement Disorders

    Volume 29, Issue 6, May 2014, Pages: 812–818, Rachel Saunders-Pullman, Tania Fuchs, Marta San Luciano, Deborah Raymond, Alison Brashear, Robert Ortega, Andres Deik, Laurie J. Ozelius and Susan B. Bressman

    Article first published online : 5 FEB 2014, DOI: 10.1002/mds.25818

  5. Engineering animal models of dystonia

    Movement Disorders

    Volume 28, Issue 7, 15 June 2013, Pages: 990–1000, Janneth Oleas, Fumiaki Yokoi, Mark P. DeAndrade, Antonio Pisani and Yuqing Li

    Article first published online : 25 JUL 2013, DOI: 10.1002/mds.25583

  6. Genetics of dystonia: What's known? What's new? What's next?

    Movement Disorders

    Volume 28, Issue 7, 15 June 2013, Pages: 899–905, Katja Lohmann and Christine Klein

    Article first published online : 25 JUL 2013, DOI: 10.1002/mds.25536

  7. Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing

    Movement Disorders

    Volume 31, Issue 4, April 2016, Pages: 471–477, Aloysius Domingo, Roberto Erro and Katja Lohmann

    Article first published online : 17 MAR 2016, DOI: 10.1002/mds.26600

  8. Primary dystonia: Moribund or viable

    Movement Disorders

    Volume 28, Issue 7, 15 June 2013, Pages: 906–913, Susan B. Bressman and Rachel Saunders-Pullman

    Article first published online : 25 JUL 2013, DOI: 10.1002/mds.25528

  9. Emerging common molecular pathways for primary dystonia

    Movement Disorders

    Volume 28, Issue 7, 15 June 2013, Pages: 968–981, Mark S. LeDoux, William T. Dauer and Thomas T. Warner

    Article first published online : 25 JUL 2013, DOI: 10.1002/mds.25547

  10. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)

    Annals of Neurology

    Volume 68, Issue 4, October 2010, Pages: 554–559, Frank J. Kaiser, Alma Osmanoric, Aleksandar Rakovic, Alev Erogullari, Nils Uflacker, Diana Braunholz, Thora Lohnau, Slobodanka Orolicki, Melanie Albrecht, Gabriele Gillessen-Kaesbach, Christine Klein and Katja Lohmann

    Article first published online : 25 OCT 2010, DOI: 10.1002/ana.22157

  11. Clinical and scientific perspectives on movement disorders: Stanley Fahn's contributions

    Movement Disorders

    Volume 30, Issue 14, December 2015, Pages: 1862–1869, Joseph Jankovic, Susan Bressman, William Dauer and Un Jung Kang

    Article first published online : 19 OCT 2015, DOI: 10.1002/mds.26445

  12. GNALMutation in Isolated Laryngeal Dystonia

    Movement Disorders

    Gregory G. Putzel, Tania Fuchs, Giovanni Battistella, Estee Rubien-Thomas, Steven J. Frucht, Andrew Blitzer, Laurie J. Ozelius and Kristina Simonyan

    Article first published online : 1 FEB 2016, DOI: 10.1002/mds.26502

  13. You have free access to this content
    Unraveling Cellular Phenotypes of Novel TorsinA/TOR1A Mutations

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1114–1122, Franca Vulinovic, Katja Lohmann, Aleksandar Rakovic, Philipp Capetian, Daniel Alvarez-Fischer, Alexander Schmidt, Anne Weißbach, Alev Erogullari, Frank J. Kaiser, Karin Wiegers, Andreas Ferbert, Arndt Rolfs, Christine Klein and Philip Seibler

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22604

  14. TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia

    Movement Disorders

    Volume 30, Issue 13, November 2015, Pages: 1853–1854, Michael Zech, Sylvia Boesch, Thomas Sycha, Joerg Mueller, Werner Poewe and Juliane Winkelmann

    Article first published online : 28 OCT 2015, DOI: 10.1002/mds.26458

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

    Annals of Neurology

    Volume 68, Issue 4, October 2010, Pages: 549–553, Sophie Gavarini, Corinne Cayrol, Tania Fuchs, Natalia Lyons, Michelle E. Ehrlich, Jean-Philippe Girard and Laurie J. Ozelius

    Article first published online : 23 SEP 2010, DOI: 10.1002/ana.22138

  16. Neuropathology of multiple system atrophy: New thoughts about pathogenesis

    Movement Disorders

    Volume 29, Issue 14, December 2014, Pages: 1720–1741, Kurt A. Jellinger

    Article first published online : 9 OCT 2014, DOI: 10.1002/mds.26052

  17. A molecular link between dystonia 1 and dystonia 6?

    Annals of Neurology

    Volume 68, Issue 4, October 2010, Pages: 418–420, Ulrich Müller

    Article first published online : 25 OCT 2010, DOI: 10.1002/ana.22183

  18. You have free access to this content
    Conditional deletion of Bmpr1a in differentiated osteoclasts increases osteoblastic bone formation, increasing volume of remodeling bone in mice

    Journal of Bone and Mineral Research

    Volume 26, Issue 10, October 2011, Pages: 2511–2522, Mina Okamoto, Junko Murai, Yuuki Imai, Daisuke Ikegami, Nobuhiro Kamiya, Shigeaki Kato, Yuji Mishina, Hideki Yoshikawa and Noriyuki Tsumaki

    Article first published online : 21 SEP 2011, DOI: 10.1002/jbmr.477

  19. You have full text access to this OnlineOpen article
    Phenotypic insights into ADCY5-associated disease

    Movement Disorders

    Florence C.F. Chang, Ana Westenberger, Russell C. Dale, Martin Smith, Hardev S. Pall, Belen Perez-Dueñas, Padraic Grattan-Smith, Robert A. Ouvrier, Neil Mahant, Bernadette C. Hanna, Matthew Hunter, John A. Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G.L. Morris, Alex Münchau, Detelina Grozeva, Keren J. Carss, Lucy Raymond, Manju A. Kurian, Christine Klein and Victor S.C. Fung

    Article first published online : 8 APR 2016, DOI: 10.1002/mds.26598

  20. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 29, Issue S1, May 2014, Pages: S1–S571,

    Article first published online : 6 JUN 2014, DOI: 10.1002/mds.25914