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There are 12534 results for: content related to: Truncating CLCN1 mutations in myotonia congenita: Variable patterns of inheritance

  1. The diagnosis and treatment of myotonic disorders

    Muscle & Nerve

    Volume 47, Issue 5, May 2013, Pages: 632–648, Chad R. Heatwole, Jeffrey M. Statland and Eric L. Logigian

    Version of Record online : 27 MAR 2013, DOI: 10.1002/mus.23683

  2. The anti-convulsants lacosamide, lamotrigine, and rufinamide reduce myotonia in isolated human and rat skeletal muscle

    Muscle & Nerve

    Martin Skov, Frank V. de Paoli, Ole B. Nielsen and Thomas H. Pedersen

    Version of Record online : 23 FEB 2017, DOI: 10.1002/mus.25452

  3. You have full text access to this OnlineOpen article
    Chloride channels in myotonia congenita assessed by velocity recovery cycles

    Muscle & Nerve

    Volume 49, Issue 6, June 2014, Pages: 845–857, S. Veronica Tan, Werner J Z'Graggen, DELPHINE Boërio, Dipa Raja Rayan, Fiona Norwood, Deborah Ruddy, R. Howard, Michael G. Hanna and Hugh Bostock

    Version of Record online : 2 MAY 2014, DOI: 10.1002/mus.24069

  4. Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation

    Muscle & Nerve

    Volume 52, Issue 4, October 2015, Pages: 680–683, Torberg Torbergsen, Karin Jurkat-Rott, Erik V. StÅLberg, Sissel Løseth, Anne Hødneø and Frank Lehmann-Horn

    Version of Record online : 30 JUN 2015, DOI: 10.1002/mus.24672

  5. Extracellular magnesium and calcium reduce myotonia in isolated ClC-1 chloride channel-inhibited human muscle

    Muscle & Nerve

    Volume 51, Issue 1, January 2015, Pages: 65–71, Martin Skov, Frank Vincenzo De Paoli, Jesper Lausten, Ole Baekgaard Nielsen and Thomas Holm Pedersen

    Version of Record online : 19 NOV 2014, DOI: 10.1002/mus.24260

  6. Cortical involvement during myotonia in myotonic dystrophy: an fMRI study

    Acta Neurologica Scandinavica

    Volume 132, Issue 1, July 2015, Pages: 65–72, A. Toth, E. Lovadi, S. Komoly, A. Schwarcz, G. Orsi, G. Perlaki, P. Bogner, A. Sebok, N. Kovacs, E. Pal and J. Janszky

    Version of Record online : 28 JAN 2015, DOI: 10.1111/ane.12360

  7. Aerobic training in myotonia congenita: Effect on myotonia and fitness

    Muscle & Nerve

    Grete Andersen, Nicoline Løkken and John Vissing

    Version of Record online : 23 MAR 2017, DOI: 10.1002/mus.25549

  8. Myotonic dystrophy health index: Correlations with clinical tests and patient function

    Muscle & Nerve

    Volume 53, Issue 2, February 2016, Pages: 183–190, Chad Heatwole, Rita Bode, Nicholas E. Johnson, Jeanne Dekdebrun, Nuran Dilek, Katy Eichinger, James E. Hilbert, Eric Logigian, Elizabeth Luebbe, William Martens, Michael P. Mcdermott, Shree Pandya, Araya Puwanant, Nan Rothrock, Charles Thornton, Barbara G. Vickrey, David Victorson and Richard T. Moxley III

    Version of Record online : 29 DEC 2015, DOI: 10.1002/mus.24725

  9. Phenotypic variability in myotonia congenita

    Muscle & Nerve

    Volume 32, Issue 1, July 2005, Pages: 19–34, Eskild Colding-Jørgensen

    Version of Record online : 22 MAR 2005, DOI: 10.1002/mus.20295

  10. Nav1.4 slow-inactivation: Is it a player in the warm-up phenomenon of myotonic disorders?

    Muscle & Nerve

    Volume 47, Issue 4, April 2013, Pages: 483–487, Christoph Lossin

    Version of Record online : 4 FEB 2013, DOI: 10.1002/mus.23713

  11. Phenotypic variability and molecular genetics in proximal myotonic myopathy

    Muscle & Nerve

    Volume 51, Issue 5, May 2015, Pages: 686–691, George Konstantinos Papadimas, Kiriaki Kekou, Constantinos Papadopoulos, Evangelia Kararizou, Emmanuel Kanavakis and Panagiota Manta

    Version of Record online : 31 MAR 2015, DOI: 10.1002/mus.24440

  12. Drug treatment for myotonia

    Intervention Review

    The Cochrane Library

    Jeroen Trip, Gea G Drost, Baziel GM van Engelen and C G Faber

    Published Online : 25 JAN 2006, DOI: 10.1002/14651858.CD004762.pub2

  13. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 574–580, C Sun, M Van Ghelue, L Tranebjærg, F Thyssen, Ø Nilssen and T Torbergsen

    Version of Record online : 19 JAN 2011, DOI: 10.1111/j.1399-0004.2010.01616.x

  14. Muscle phenotype in patients with myotonic dystrophy type 1

    Muscle & Nerve

    Volume 47, Issue 3, March 2013, Pages: 409–415, Grete Andersen, Mette C. Ørngreen, Nicolai Preisler, Eskild Colding-J⊘rgensen, Torben Clausen, Morten Duno, Tina D. Jeppesen and John Vissing

    Version of Record online : 21 NOV 2012, DOI: 10.1002/mus.23535

  15. Sodium channel slow inactivation as a therapeutic target for myotonia congenita

    Annals of Neurology

    Volume 77, Issue 2, February 2015, Pages: 320–332, Kevin R. Novak, Jennifer Norman, Jacob R. Mitchell, Martin J. Pinter and Mark M. Rich

    Version of Record online : 9 JAN 2015, DOI: 10.1002/ana.24331

  16. Channelopathies of Skeletal Muscle Excitability

    Standard Article

    Comprehensive Physiology

    Stephen C. Cannon

    Published Online : 16 MAR 2015, DOI: 10.1002/cphy.c140062

  17. Differential diagnosis of myotonic disorders

    Muscle & Nerve

    Volume 37, Issue 3, March 2008, Pages: 293–299, Timothy M. Miller

    Version of Record online : 7 DEC 2007, DOI: 10.1002/mus.20923

  18. Chemically induced or inherited myotonia?

    Emergency Medicine

    Volume 5, Issue 3, September 1993, Pages: 163–171, BEVERLEY A COYNE

    Version of Record online : 26 AUG 2009, DOI: 10.1111/j.1442-2026.1993.tb00093.x

  19. A review of muscle- and performance-based assessment instruments in DM1

    Muscle & Nerve

    Tara Symonds, Patrick Campbell and Jason A. Randall

    Version of Record online : 1 MAR 2017, DOI: 10.1002/mus.25468

  20. The course and outcome of pregnancy in women with nondystrophic myotonias

    Muscle & Nerve

    Volume 52, Issue 6, December 2015, Pages: 1013–1015, Yuliya Snyder, Colleen Donlin-Smith, Eric Snyder, Eva Pressman and Emma Ciafaloni

    Version of Record online : 23 MAY 2015, DOI: 10.1002/mus.24684