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There are 20960 results for: content related to: Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

  1. You have free access to this content
    Exclusive paternal expression and novel alternatively spliced variants of ε-sarcoglycan mRNA in mouse brain

    FEBS Letters

    Volume 579, Issue 21, August 29, 2005, Pages: 4822–4828, Fumiaki Yokoi, Mai T. Dang, Shinichi Mitsui and Yuqing Li

    Version of Record online : 8 AUG 2005, DOI: 10.1016/j.febslet.2005.07.065

  2. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 27, Issue S1, June 2012, Pages: S1–S523,

    Version of Record online : 19 JUN 2012, DOI: 10.1002/mds.25051

  3. Milestones in dystonia

    Movement Disorders

    Volume 26, Issue 6, May 2011, Pages: 1106–1126, Laurie J. Ozelius, Naomi Lubarr and Susan B. Bressman

    Version of Record online : 27 MAY 2011, DOI: 10.1002/mds.23775

  4. “Jerky” dystonia in children: Spectrum of phenotypes and genetic testing

    Movement Disorders

    Volume 24, Issue 5, 15 April 2009, Pages: 702–709, Friedrich Asmus, Annette Langseth, Elaine Doherty, Therese Nestor, Marita Munz, Thomas Gasser, Tim Lynch and Mary D. King

    Version of Record online : 31 DEC 2008, DOI: 10.1002/mds.22426

  5. Dystonia-plus syndromes

    European Journal of Neurology

    Volume 17, Issue s1, July 2010, Pages: 37–45, F. Asmus and T. Gasser

    Version of Record online : 8 JUN 2010, DOI: 10.1111/j.1468-1331.2010.03049.x

  6. A novel mutation of the ε-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome

    Movement Disorders

    Volume 23, Issue 10, 30 July 2008, Pages: 1472–1475, Xue-Ping Chen, Yang-Wei Zhang, Shu-Shan Zhang, Qin Chen, Jean-Marc Burgunder, Shu-Hui Wu, Yuan Yang, Zu-Ming Luo and Hui-Fang Shang

    Version of Record online : 25 JUN 2008, DOI: 10.1002/mds.22008

  7. ε-sarcoglycan mutations found in combination with other dystonia gene mutations

    Annals of Neurology

    Volume 52, Issue 5, November 2002, Pages: 675–679, Christine Klein, Liu Liu, Dana Doheny, Norman Kock, Birgitt Müller, Patricia De Carvalho Aguiar, Joanne Leung, Deborah De Leon, Susan B. Bressman, Jeremy Silverman, Christopher Smith, Fabio Danisi, Chris Morrison, Ruth H. Walker, Miodrag Velickovic, Eberhard Schwinger, Patricia L. Kramer, Xandra O. Breakefield, Mitchell F. Brin and Laurie J. Ozelius

    Version of Record online : 25 SEP 2002, DOI: 10.1002/ana.10358

  8. You have free access to this content
    Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

    Movement Disorders

    Volume 23, Issue 1, January 2008, Pages: 28–34, Nardo Nardocci, Giovanna Zorzi, Chiara Barzaghi, Federica Zibordi, Claudia Ciano, Daniele Ghezzi and Barbara Garavaglia

    Version of Record online : 12 SEP 2007, DOI: 10.1002/mds.21715

  9. Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene

    Movement Disorders

    Volume 22, Issue 14, 31 October 2007, Pages: 2090–2096, Michael Orth, Ana Djarmati, Tobias Bäumer, Susan Winkler, Anne Grünewald, Katja Lohmann-Hedrich, Kemal Kabakci, Johann Hagenah, Christine Klein and Alexander Münchau

    Version of Record online : 13 AUG 2007, DOI: 10.1002/mds.21674

  10. Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria

    Movement Disorders

    Volume 28, Issue 6, June 2013, Pages: 787–794, Miryam Carecchio, Monia Magliozzi, Massimiliano Copetti, Alessandro Ferraris, Laura Bernardini, Monica Bonetti, Giovanni Defazio, Mark J. Edwards, Isabella Torrente, Fabio Pellegrini, Cristoforo Comi, Kailash P. Bhatia and Enza Maria Valente

    Version of Record online : 15 MAY 2013, DOI: 10.1002/mds.25506

  11. Clinical and molecular genetic evaluation of patients with primary dystonia

    European Journal of Neurology

    Volume 12, Issue 2, February 2005, Pages: 131–138, H. Shang, N. Clerc, D. Lang, A. Kaelin-Lang and J.-M. Burgunder

    Version of Record online : 28 JAN 2005, DOI: 10.1111/j.1468-1331.2004.00974.x

  12. Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1244–1249, Pascale Saugier-Veber, Diane Doummar, Marie-Anne Barthez, Virginie Czernecki, Nathalie Drouot, Emmanuelle Apartis, Lydie Bürglen, Thierry Frebourg and Emmanuel Roze

    Version of Record online : 22 APR 2010, DOI: 10.1002/ajmg.a.33369

  13. No muscle involvement in myoclonus-dystonia caused by ɛ-sarcoglycan gene mutations

    European Journal of Neurology

    Volume 15, Issue 5, May 2008, Pages: 525–529, L. E. Hjermind, J. Vissing, F. Asmus, T. Krag, H. Lochmüller, M. C. Walter, J. Erdal, D. J. Blake and J. E. Nielsen

    Version of Record online : 18 MAR 2008, DOI: 10.1111/j.1468-1331.2008.02116.x

  14. Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review

    Movement Disorders

    Volume 26, Issue 10, 15 August 2011, Pages: 1939–1942, Kathryn J. Peall, Adrian J. Waite, Derek J. Blake, Mike J. Owen and Huw R. Morris

    Version of Record online : 28 JUN 2011, DOI: 10.1002/mds.23791

  15. Myoclonus in a patient with a deletion of the ε-sarcoglycan locus on chromosome 7q21

    American Journal of Medical Genetics Part A

    Volume 121A, Issue 1, 15 August 2003, Pages: 31–36, Ralph J. DeBerardinis, Danielle Conforto, Karen Russell, Jennifer Kaplan, Peter R. Kollros, Elaine H. Zackai and Beverly S. Emanuel

    Version of Record online : 9 APR 2003, DOI: 10.1002/ajmg.a.20162

  16. Large deletions account for an increasing number of mutations in SGCE

    Movement Disorders

    Volume 23, Issue 3, 15 February 2008, Pages: 456–460, Fabin Han, Lemuel Racacho, Howard Yang, Tara Read, Oksana Suchowersky, Anthony E. Lang, David A. Grimes and Dennis E. Bulman

    Version of Record online : 20 DEC 2007, DOI: 10.1002/mds.21895

  17. A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway

    Human Mutation

    Volume 32, Issue 11, November 2011, Pages: 1246–1258, Adrian Waite, Maria Cristina De Rosa, Andrea Brancaccio and Derek J. Blake

    Version of Record online : 15 SEP 2011, DOI: 10.1002/humu.21561

  18. Myoclonus-dystonia: An update

    Movement Disorders

    Volume 24, Issue 4, 15 March 2009, Pages: 479–489, Kiyoka Kinugawa, Marie Vidailhet, Fabienne Clot, Emmanuelle Apartis, David Grabli and Emmanuel Roze

    Version of Record online : 31 DEC 2008, DOI: 10.1002/mds.22425

  19. 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

    Version of Record online : 25 JUL 2013, DOI: 10.1002/mds.25583

  20. Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia

    Movement Disorders

    Volume 22, Issue 14, 31 October 2007, Pages: 2104–2109, Friedrich Asmus, Anita Devlin, Marita Munz, Alexander Zimprich, Thomas Gasser and Patrick F. Chinnery

    Version of Record online : 13 AUG 2007, DOI: 10.1002/mds.21692