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There are 11102 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

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1600-0854.2008.00716.x

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    Divergent functions of the myotubularin (MTM) homologs AtMTM1 and AtMTM2 in Arabidopsis thaliana: evolution of the plant MTM family

    The Plant Journal

    Volume 70, Issue 5, June 2012, Pages: 866–878, Yong Ding, Ivan Ndamukong, Yang Zhao, Yuannan Xia, Jean-Jack Riethoven, David R. Jones, Nullin Divecha and Zoya Avramova

    Article first published online : 30 MAR 2012, DOI: 10.1111/j.1365-313X.2012.04936.x

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    Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization

    Journal of Neurochemistry

    Volume 104, Issue 6, March 2008, Pages: 1536–1552, Dmitry Goryunov, Andrew Nightingale, Lorelei Bornfleth, Conrad Leung and Ronald K. H. Liem

    Article first published online : 31 OCT 2007, DOI: 10.1111/j.1471-4159.2007.05103.x

  4. 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

    Article first published online : 21 APR 2008, DOI: 10.1111/j.1600-0854.2008.00754.x

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    The Myotubularin Family of Lipid Phosphatases


    Volume 6, Issue 12, November-December 2005, Pages: 1063–1069, Michael J. Clague and Óscar Lorenzo

    Article first published online : 26 AUG 2005, DOI: 10.1111/j.1600-0854.2005.00338.x

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    Myotubularin Lipid Phosphatase Binds the hVPS15/hVPS34 Lipid Kinase Complex on Endosomes


    Volume 8, Issue 8, August 2007, Pages: 1052–1067, Canhong Cao, Jocelyn Laporte, Jonathan M. Backer, Angela Wandinger-Ness and Mary-Pat Stein

    Article first published online : 24 APR 2007, DOI: 10.1111/j.1600-0854.2007.00586.x

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    Wnt signalling requires MTM-6 and MTM-9 myotubularin lipid-phosphatase function in Wnt-producing cells

    The EMBO Journal

    Volume 29, Issue 24, December 15, 2010, Pages: 4094–4105, Marie Silhankova, Fillip Port, Martin Harterink, Konrad Basler and Hendrik C Korswagen

    Article first published online : 12 NOV 2010, DOI: 10.1038/emboj.2010.278

  8. 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 2015, Pages: 254–260, E.C.R. Snead, S.M. Taylor, M. van der Kooij, K. Cosford, A.H. Beggs and G.D. Shelton

    Article first published online : 8 JAN 2015, DOI: 10.1111/jvim.12513

  9. General anesthesia in an infant with X-linked myotubular myopathy

    Pediatric Anesthesia

    Volume 14, Issue 11, November 2004, Pages: 964–968, David Costi and Johan H van der Walt

    Article first published online : 2 SEP 2004, DOI: 10.1111/j.1460-9592.2004.01307.x

  10. 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

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560111.x

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    Development of a mammalian series-fibered muscle

    The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology

    Volume 278A, Issue 2, June 2004, Pages: 571–578, Angelika C. Paul, Philip W. Sheard and Marilyn J. Duxson

    Article first published online : 10 MAY 2004, DOI: 10.1002/ar.a.20020

  12. 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

    Article first published online : 19 JUN 2013, DOI: 10.1002/brb3.147

  13. Congenital myopathies at their molecular dawning

    Muscle & Nerve

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

    Article first published online : 4 MAR 2003, DOI: 10.1002/mus.10322

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    Myotube heterogeneity in developing chick craniofacial skeletal muscles

    Developmental Dynamics

    Volume 214, Issue 3, March 1999, Pages: 178–194, Ralph S. Marcucio and Drew M. Noden

    Article first published online : 16 SEP 1999, DOI: 10.1002/(SICI)1097-0177(199903)214:3<178::AID-AJA2>3.0.CO;2-4

  15. Phosphatidylinositol 5-phosphate: A nuclear stress lipid and a tuner of membranes and cytoskeleton dynamics


    Volume 36, Issue 3, March 2014, Pages: 260–272, Julien Viaud, Frédéric Boal, Hélène Tronchère, Frédérique Gaits-Iacovoni and Bernard Payrastre

    Article first published online : 21 DEC 2013, DOI: 10.1002/bies.201300132

  16. Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 3, 30 April 2005, Pages: 338–340, Edmar Zanoteli, Jocelyn Laporte, José C.C. Rocha, Christine Kretz, Acary S.B. Oliveira, Jean-Louis Mandel, Ana B.A. Perez, Alberto A. Gabbai and Anna Buj-Bello

    Article first published online : 2 FEB 2005, DOI: 10.1002/ajmg.a.30574

  17. Artemisia dracunculus L. extract ameliorates insulin sensitivity by attenuating inflammatory signalling in human skeletal muscle culture

    Diabetes, Obesity and Metabolism

    Volume 16, Issue 8, August 2014, Pages: 728–738, B. Vandanmagsar, K. R. Haynie, S. E. Wicks, E. M. Bermudez, T. M. Mendoza, D. Ribnicky, W. T. Cefalu and R. L. Mynatt

    Article first published online : 10 MAR 2014, DOI: 10.1111/dom.12274

  18. You have full text access to this OnlineOpen article
    N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

    EMBO Molecular Medicine

    Volume 6, Issue 11, November 2014, Pages: 1455–1475, Sestina Falcone, William Roman, Karim Hnia, Vincent Gache, Nathalie Didier, Jeanne Lainé, Frederic Auradé, Isabelle Marty, Ichizo Nishino, Nicolas Charlet-Berguerand, Norma Beatriz Romero, Giovanna Marazzi, David Sassoon, Jocelyn Laporte and Edgar R Gomes

    Article first published online : 29 SEP 2014, DOI: 10.15252/emmm.201404436

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    Control of autophagy initiation by phosphoinositide 3-phosphatase jumpy

    The EMBO Journal

    Volume 28, Issue 15, August 5, 2009, Pages: 2244–2258, Isabelle Vergne, Esteban Roberts, Rasha A Elmaoued, Valérie Tosch, Mónica A Delgado, Tassula Proikas-Cezanne, Jocelyn Laporte and Vojo Deretic

    Article first published online : 9 JUL 2009, DOI: 10.1038/emboj.2009.159

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    Corrigendum: Control of autophagy initiation by phosphoinositide 3-phosphatase jumpy

    Vol. 28, Issue 23, 3780, Article first published online: 10 SEP 2009

  20. Dexamethasone and corticosterone induce similar, but not identical, muscle wasting responses in cultured L6 and C2C12 myotubes

    Journal of Cellular Biochemistry

    Volume 105, Issue 2, 1 October 2008, Pages: 353–364, Michael Menconi, Patricia Gonnella, Victoria Petkova, Stewart Lecker and Per-Olof Hasselgren

    Article first published online : 9 JUL 2008, DOI: 10.1002/jcb.21833