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There are 10200 results for: content related to: Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

  1. You have free access to this content
    RYR1-related myopathies: a wide spectrum of phenotypes throughout life

    European Journal of Neurology

    Volume 22, Issue 7, July 2015, Pages: 1094–1112, M. Snoeck, B. G. M. van Engelen, B. Küsters, M. Lammens, R. Meijer, J. P. F. Molenaar, J. Raaphorst, C. C. Verschuuren-Bemelmans, C. S. M. Straathof, L. T. L. Sie, I. F. de Coo, W. L. van der Pol, M. de Visser, H. Scheffer, S. Treves, H. Jungbluth, N. C. Voermans and E.-J. Kamsteeg

    Version of Record online : 11 MAY 2015, DOI: 10.1111/ene.12713

  2. RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 986–996, Haiyan Zhou, Ori Rokach, Lucy Feng, Iulia Munteanu, Kamel Mamchaoui, Jo M. Wilmshurst, Caroline Sewry, Adnan Y. Manzur, Komala Pillay, Vincent Mouly, Michael Duchen, Heinz Jungbluth, Susan Treves and Francesco Muntoni

    Version of Record online : 17 APR 2013, DOI: 10.1002/humu.22326

  3. The neuromuscular differential diagnosis of joint hypermobility

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 23–42, S. Donkervoort, C.G. Bonnemann, B. Loeys, H. Jungbluth and N.C. Voermans

    Version of Record online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31433

  4. Core myopathies and malignant hyperthermia susceptibility: a review

    Pediatric Anesthesia

    Volume 23, Issue 9, September 2013, Pages: 834–841, Robert P. Brislin and Mary C. Theroux

    Version of Record online : 25 APR 2013, DOI: 10.1111/pan.12175

  5. Mutations in RYR1 in malignant hyperthermia and central core disease

    Human Mutation

    Volume 27, Issue 10, October 2006, Pages: 977–989, Rachel Robinson, Danielle Carpenter, Marie-Anne Shaw, Jane Halsall and Philip Hopkins

    Version of Record online : 17 AUG 2006, DOI: 10.1002/humu.20356

  6. You have free access to this content
    Calcitonin gene-related peptide restores disrupted excitation–contraction coupling in myotubes expressing central core disease mutations in RyR1

    The Journal of Physiology

    Volume 589, Issue 19, October 2011, Pages: 4649–4669, Ana Victoria Vega, Roberto Ramos-Mondragón, Aida Calderón-Rivera, Angel Zarain-Herzberg and Guillermo Avila

    Version of Record online : 29 SEP 2011, DOI: 10.1113/jphysiol.2011.210765

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    Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres

    The Journal of Physiology

    Volume 589, Issue 22, November 2011, Pages: 5361–5382, Romain Lefebvre, Claude Legrand, Estela González-Rodríguez, Linda Groom, Robert T. Dirksen and Vincent Jacquemond

    Version of Record online : 14 NOV 2011, DOI: 10.1113/jphysiol.2011.216408

  8. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 772–778, Eri Kondo, Takafumi Nishimura, Tomoki Kosho, Yuji Inaba, Satomi Mitsuhashi, Takefumi Ishida, Atsushi Baba, Kenichi Koike, Ichizo Nishino, Ikuya Nonaka, Toru Furukawa and Kayoko Saito

    Version of Record online : 9 MAR 2012, DOI: 10.1002/ajmg.a.35243

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    Myopathology in times of modern imaging

    Neuropathology and Applied Neurobiology

    Volume 43, Issue 1, February 2017, Pages: 24–43, H. Jungbluth

    Version of Record online : 15 MAR 2017, DOI: 10.1111/nan.12385

  10. RYR1 mutations are a common cause of congenital myopathies with central nuclei

    Annals of Neurology

    Volume 68, Issue 5, November 2010, Pages: 717–726, J.M. Wilmshurst, S. Lillis, H. Zhou, K. Pillay, H. Henderson, W. Kress, C.R. Müller, A. Ndondo, V. Cloke, T. Cullup, E. Bertini, C. Boennemann, V. Straub, R. Quinlivan, J.J. Dowling, S. Al- Sarraj, S. Treves, S. Abbs, A.Y. Manzur, C.A. Sewry, F. Muntoni and H. Jungbluth

    Version of Record online : 13 SEP 2010, DOI: 10.1002/ana.22119

  11. Congenital myopathies at their molecular dawning

    Muscle & Nerve

    Volume 27, Issue 5, May 2003, Pages: 527–548, Hans H. Goebel

    Version of Record online : 4 MAR 2003, DOI: 10.1002/mus.10322

  12. Myopathology in congenital myopathies

    Neuropathology and Applied Neurobiology

    Volume 43, Issue 1, February 2017, Pages: 5–23, C. A. Sewry and C. Wallgren-Pettersson

    Version of Record online : 15 MAR 2017, DOI: 10.1111/nan.12369

  13. Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility

    Human Mutation

    Volume 26, Issue 5, November 2005, Pages: 413–425, Nicole Monnier, Geneviève Kozak-Ribbens, Renée Krivosic-Horber, Yves Nivoche, Dong Qi, Natasha Kraev, Julian Loke, Parveen Sharma, Vincenzo Tegazzin, Dominique Figarella-Branger, Norma Roméro, Paulette Mezin, David Bendahan, Jean-François Payen, Thierry Depret, David H. Maclennan and Joël Lunardi

    Version of Record online : 14 SEP 2005, DOI: 10.1002/humu.20231

  14. You have free access to this content
    Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

    Human Mutation

    Volume 31, Issue 7, July 2010, Pages: E1544–E1550, Nigel F. Clarke, Leigh B. Waddell, Sandra T. Cooper, Margaret Perry, Robert L.L. Smith, Andrew J. Kornberg, Francesco Muntoni, Suzanne Lillis, Volker Straub, Kate Bushby, Michela Guglieri, Mary D. King, Michael A. Farrell, Isabelle Marty, Joel Lunardi, Nicole Monnier and Kathryn N. North

    Version of Record online : 11 MAY 2010, DOI: 10.1002/humu.21278

  15. Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

    Clinical Genetics

    Volume 79, Issue 5, May 2011, Pages: 438–447, A Tammaro, A Di Martino, A Bracco, S Cozzolino, G Savoia, B Andria, A Cannavo, M Spagnuolo, G Piluso, S Aurino and V Nigro

    Version of Record online : 29 JUN 2010, DOI: 10.1111/j.1399-0004.2010.01493.x

  16. Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis

    Pediatrics International

    Volume 56, Issue 6, December 2014, Pages: e88–e91, Jin Sook Lee, Byung Chan Lim, Ki Joong Kim, Yong Seung Hwang, Moon-Woo Seong, Sung Sup Park, Sung-Hye Park and Jong-Hee Chae

    Version of Record online : 18 DEC 2014, DOI: 10.1111/ped.12442

  17. Increasing the number of diagnostic mutations in malignant hyperthermia

    Human Mutation

    Volume 30, Issue 4, April 2009, Pages: 590–598, Soledad Levano, Mirko Vukcevic, Martine Singer, Anja Matter, Susan Treves, Albert Urwyler and Thierry Girard

    Version of Record online : 3 FEB 2009, DOI: 10.1002/humu.20878

  18. Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation–contraction (EC) coupling by distinct mechanisms

    Human Mutation

    Volume 28, Issue 1, January 2007, Pages: 61–68, Alla D. Lyfenko, Sylvie Ducreux, Ying Wang, Le Xu, Francesco Zorzato, Ana Ferreiro, Gerhard Meissner, Susan Treves and Robert T. Dirksen

    Version of Record online : 6 SEP 2006, DOI: 10.1002/humu.20409

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    Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

    Neuropathology and Applied Neurobiology

    Volume 37, Issue 3, April 2011, Pages: 271–284, J. A. Bevilacqua, N. Monnier, M. Bitoun, B. Eymard, A. Ferreiro, S. Monges, F. Lubieniecki, A. L. Taratuto, A. Laquerrière, K. G. Claeys, I. Marty, M. Fardeau, P. Guicheney, J. Lunardi and N. B. Romero

    Version of Record online : 22 FEB 2011, DOI: 10.1111/j.1365-2990.2010.01149.x

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    Functional effects of mutations identified in patients with Multiminicore disease

    IUBMB Life

    Volume 59, Issue 1, 2007, Pages: 14–20, Francesco Zorzato, Heinz Jungbluth, Haiyan Zhou, Francesco Muntoni and Susan Treves

    Version of Record online : 3 JAN 2008, DOI: 10.1080/15216540601187803