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There are 61887 results for: content related to: Prominent Lower-Limb Involvement in a Family with Myoclonus-Dystonia

  1. 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

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    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

  3. “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

  4. 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

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    Myoclonus-dystonia: significance of large SGCE deletions

    Human Mutation

    Volume 29, Issue 2, February 2008, Pages: 331–332, A. Grünewald, A. Djarmati, K. Lohmann-Hedrich, K. Farrell, J.A. Zeller, N. Allert, F. Papengut, B. Petersen, V. Fung, C.M. Sue, D. O'Sullivan, N. Mahant, A. Kupsch, R.S. Chuang, K. Wiegers, H. Pawlack, J. Hagenah, L.J. Ozelius, U. Stephani, R. Schuit, A.E. Lang, J. Volkmann, A. Münchau and C. Klein

    Version of Record online : 18 JAN 2008, DOI: 10.1002/humu.9521

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    Poster Presentations

    Movement Disorders

    Volume 30, Issue S1, June 2015, Pages: S1–S567,

    Version of Record online : 12 JUN 2015, DOI: 10.1002/mds.26295

  7. 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

  8. Inherited Myoclonus Syndromes

    Hyperkinetic Movement Disorders: Differential Diagnosis and Treatment

    Emmanuel Roze, Emmanuelle Apartis, Pages: 207–220, 2012

    Published Online : 24 FEB 2012, DOI: 10.1002/9781444346183.ch14

  9. 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

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    Abstracts of The Movement Disorder Society's Eleventh International Congress of Parkinson's Disease and Movement Disorders

    Movement Disorders

    Volume 22, Issue S16, 2007, Pages: S1–S325,

    Version of Record online : 24 APR 2007, DOI: 10.1002/mds.21535

  11. 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

  12. Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

    Movement Disorders

    Volume 19, Issue 11, November 2004, Pages: 1294–1297, Kathrin Grundmann, Ulrike Laubis-Herrmann, Dirk Dressler, Juliane Vollmer-Haase, Peter Bauer, Manfred Stuhrmann, Thorsten Schulte, Ludger Schöls, Helge Topka and Olaf Riess

    Version of Record online : 26 MAY 2004, DOI: 10.1002/mds.20128

  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. Bilateral Globus Pallidus Interna Deep-Brain Stimulation in a Patient With Myoclonus-Dystonia: A Case Report

    Neuromodulation: Technology at the Neural Interface

    Volume 17, Issue 8, December 2014, Pages: 724–728, Ji Hee Kim, Young Cheol Na, Won Hee Lee, Won Seok Chang, Hyun Ho Jung and Jin Woo Chang

    Version of Record online : 25 FEB 2014, DOI: 10.1111/ner.12162

  15. Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity

    Movement Disorders

    Volume 18, Issue 9, September 2003, Pages: 1047–1051, Enza-Maria Valente, Anjum Misbahuddin, Francesco Brancati, Mark R. Placzek, Barbara Garavaglia, Sergio Salvi, Andrea Nemeth, Charles Shaw-Smith, Nardo Nardocci, Anna-Rita Bentivoglio, Alfredo Berardelli, Roberto Eleopra, Bruno Dallapiccola and Thomas T. Warner

    Version of Record online : 23 APR 2003, DOI: 10.1002/mds.10476

  16. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene

    Annals of Neurology

    Volume 58, Issue 5, November 2005, Pages: 792–797, Friedrich Asmus, Farid Salih, Lena Elisabeth Hjermind, Karen Ostergaard, Marita Munz, Andrea A. Kühn, Erik Dupont, Andreas Kupsch and Thomas Gasser

    Version of Record online : 20 OCT 2005, DOI: 10.1002/ana.20661

  17. Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 276–280, J Xiao, MA Nance and MS LeDoux

    Version of Record online : 30 NOV 2012, DOI: 10.1111/cge.12059

  18. 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

  19. Myoclonus–dystonia syndrome: ε-sarcoglycan mutations and phenotype

    Annals of Neurology

    Volume 52, Issue 4, October 2002, Pages: 489–492, Friedrich Asmus, Alexander Zimprich, Sophie Tezenas Du Montcel, Christian Kabus, Günther Deuschl, Andreas Kupsch, Ulf Ziemann, Mirna Castro, Andrea A. Kühn, Tim M. Strom, Marie Vidailhet, Kailash P. Bhatia, Alexandra Dürr, Nicholas W. Wood, Alexis Brice and Thomas Gasser

    Version of Record online : 29 AUG 2002, DOI: 10.1002/ana.10325

  20. Poster Session 1

    Movement Disorders

    Volume 21, Issue S15, September 2006, Pages: S329–S424,

    Version of Record online : 20 SEP 2006, DOI: 10.1002/mds.21246