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There are 19570 results for: content related to: Diagnosis of X-linked myotubular myopathy by detection of myotubularin

  1. You have free access to this content
    Membrane Traffic and Muscle: Lessons from Human Disease


    Volume 9, Issue 7, July 2008, Pages: 1035–1043, James J. Dowling, Elizabeth M. Gibbs and Eva L. Feldman

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1600-0854.2008.00716.x

  2. MTM1 mutations in X-linked myotubular myopathy

    Human Mutation

    Volume 15, Issue 5, May 2000, Pages: 393–409, Jocelyn Laporte, Valérie Biancalana, Stephan M. Tanner, Wolfram Kress, Vreni Schneider, Carina Wallgren-Pettersson, Franziska Herger, Anna Buj-Bello, François Blondeau, Sabina Liechti-Gallati and Jean-Louis Mandel

    Version of Record online : 26 APR 2000, DOI: 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R

  3. You have full text access to this OnlineOpen article
    Endosomal Phosphoinositides and Human Diseases


    Volume 9, Issue 8, August 2008, Pages: 1240–1249, Anne-Sophie Nicot and Jocelyn Laporte

    Version of Record online : 21 APR 2008, DOI: 10.1111/j.1600-0854.2008.00754.x

  4. Centronuclear myopathy in old age

    The Journal of Pathology

    Volume 108, Issue 3, November 1972, Pages: 237–248, D. G. F. Harriman and M. A. Haleem

    Version of Record online : 14 JUN 2005, DOI: 10.1002/path.1711080309


    Acta Paediatrica

    Volume 68, Issue 5, September 1979, Pages: 773–778, B. REITTER, W. MORTIER and L. WILLE

    Version of Record online : 26 NOV 2014, DOI: 10.1111/j.1651-2227.1979.tb18457.x

  6. ECEL1 mutation causes fetal arthrogryposis multiplex congenita

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 731–743, N. Dohrn, V.Q. Le, A. Petersen, P. Skovbo, I.S. Pedersen, A. Ernst, H. Krarup and M.B. Petersen

    Version of Record online : 23 FEB 2015, DOI: 10.1002/ajmg.a.37018

  7. Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: 949–959, Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Elise Schaefer, Hatice Karasoy, Melissa A. Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz-Laguna, Carina Wallgren-Pettersson, James Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary S. B. Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, Alain Furby, Jose E. Barcena Llona, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin-Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine Mathews, Lori A. H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie A. Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean-Louis Mandel, Alan H. Beggs and Jocelyn Laporte

    Version of Record online : 4 APR 2012, DOI: 10.1002/humu.22067

  8. Germline mosaicism in X-linked myotubular myopathy

    Clinical Genetics

    Volume 56, Issue 1, July 1999, Pages: 77–81, Bernhard G Häne, R Curtis Rogers and Charles E Schwartz

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560111.x

  9. Centronuclear myopathy: Possible central nervous system origin

    Muscle & Nerve

    Volume 1, Issue 1, January/February 1978, Pages: 62–69, Dr. G. Serratrice, J. F. Pellissier, M. C. Faugere and J. L. Gastaut

    Version of Record online : 13 OCT 2004, DOI: 10.1002/mus.880010109

  10. 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

  11. Centronuclear Myopathy: A Light and Electron Microscopic Study and a Review of the Literature

    Psychiatry and Clinical Neurosciences

    Volume 27, Issue 2, June 1973, Pages: 143–154, Teruo Shirabe, Shigeichi Matsumura, Akira Terao and Shukuro Araki

    Version of Record online : 17 MAR 2008, DOI: 10.1111/j.1440-1819.1973.tb00089.x

  12. Familial centronuclear myopathy: a clinical and pathological study

    Acta Neurologica Scandinavica

    Volume 76, Issue 2, August 1987, Pages: 115–122, E. Reske-Nielsen, O. Hein-ßrensen and P. Vorre

    Version of Record online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1987.tb03554.x

  13. Autosomal dominant centronuclear myopathy: Report of a new family with clinical features simulating facioscapulohumeral syndrome

    Muscle & Nerve

    Volume 20, Issue 9, September 1997, Pages: 1194–1196, Kevin J. Felice and Margaret L. Grunnet

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1097-4598(199709)20:9<1194::AID-MUS19>3.0.CO;2-T

  14. Familial centronuclear myopathy

    Acta Neurologica Scandinavica

    Volume 62, Issue 1, July 1980, Pages: 33–40, Lorenzo Pavone, Florindo Mollica, Antonio Grasso and Giuseppe Pero

    Version of Record online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1980.tb03001.x

  15. You have full text access to this OnlineOpen article
    Extensive morphological and immunohistochemical characterization in myotubular myopathy

    Brain and Behavior

    Volume 3, Issue 4, July 2013, Pages: 476–486, Minobu Shichiji, Valérie Biancalana, Michel Fardeau, Jean-Yves Hogrel, Makiko Osawa, Jocelyn Laporte and Norma Beatriz Romero

    Version of Record online : 19 JUN 2013, DOI: 10.1002/brb3.147

  16. You have full text access to this Open Access content
    Clinical Phenotype of X-Linked Myotubular Myopathy in Labrador Retriever Puppies

    Journal of Veterinary Internal Medicine

    Volume 29, Issue 1, January/February 2015, Pages: 254–260, E.C.R. Snead, S.M. Taylor, M. van der Kooij, K. Cosford, A.H. Beggs and G.D. Shelton

    Version of Record online : 8 JAN 2015, DOI: 10.1111/jvim.12513

  17. You have free access to this content
    The role of PI3P phosphatases in the regulation of autophagy

    FEBS Letters

    Volume 584, Issue 7, April 02, 2010, Pages: 1313–1318, Isabelle Vergne and Vojo Deretic

    Version of Record online : 24 FEB 2010, DOI: 10.1016/j.febslet.2010.02.054

  18. Centronuclear myopathy: Extraocular- and limb-muscle findings in an adult

    Muscle & Nerve

    Volume 3, Issue 2, March/April 1980, Pages: 165–171, Dr. Barry J. Bergen, Dr. Michael P. Carry, Dr. W. Bruce Wilson, Mr. Michael T. Barden and Dr. Steven P. Ringel

    Version of Record online : 13 OCT 2004, DOI: 10.1002/mus.880030210

  19. Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy

    American Journal of Medical Genetics

    Volume 39, Issue 1, 1 April 1991, Pages: 13–18, Galen N. Breningstall, Warren D. Grover and Harold G. Marks

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.1320390105

  20. Centronuclear Myopathies

    Muscle Disease: Pathology and Genetics, Second edition

    Norma Beatriz Romero, Jocelyn Laporte, Pages: 134–144, 2013

    Published Online : 8 JUL 2013, DOI: 10.1002/9781118635469.ch13