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There are 2535614 results for: content related to: Germline mosaicism in X-linked myotubular myopathy

  1. 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

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

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

    Traffic

    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

  3. You have free access to this content
    The Myotubularin Family: Novel Phosphoinositide Regulators

    IUBMB Life

    Volume 53, Issue 1, January 2002, Pages: 37–43, Harshal H. Nandurkar and Richard Huysmans

    Article first published online : 3 JAN 2008, DOI: 10.1080/15216540210812

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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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    Membrane Traffic and Muscle: Lessons from Human Disease

    Traffic

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

    Traffic

    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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    The Myotubularin Family of Lipid Phosphatases

    Traffic

    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

  8. Diagnosis of X-linked myotubular myopathy by detection of myotubularin

    Annals of Neurology

    Volume 50, Issue 1, July 2001, Pages: 42–46, Jocelyn Laporte, Wolfram Kress and Jean-Louis Mandel

    Article first published online : 2 APR 2001, DOI: 10.1002/ana.1033

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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

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    Protein tyrosine phosphatases: dual-specificity phosphatases in health and disease

    FEBS Journal

    Volume 275, Issue 5, March 2008, Pages: 848–866, Rafael Pulido and Rob Hooft van Huijsduijnen

    Article first published online : 8 FEB 2008, DOI: 10.1111/j.1742-4658.2008.06250.x

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    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

  12. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

    Human Mutation

    Volume 19, Issue 2, February 2002, Pages: 114–121, Gail E. Herman, Kevin Kopacz, Wei Zhao, Patti L. Mills, Aida Metzenberg and Soma Das

    Article first published online : 7 JAN 2002, DOI: 10.1002/humu.10033

  13. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

    Human Mutation

    Volume 14, Issue 4, October 1999, Pages: 320–325, Anna Buj-Bello, Valérie Biancalana, Céline Moutou, Jocelyn Laporte and Jean-Louis Mandel

    Article first published online : 28 SEP 1999, DOI: 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O

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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

  15. Myotubularin phosphoinositide phosphatases, protein phosphatases, and kinases: Their roles in junction dynamics and spermatogenesis

    Journal of Cellular Physiology

    Volume 204, Issue 2, August 2005, Pages: 470–483, Jiayi Zhang, Dolores D. Mruk and C. Yan Cheng

    Article first published online : 2 FEB 2005, DOI: 10.1002/jcp.20303

  16. Congenital Myopathies

    Brain Pathology

    Volume 11, Issue 2, April 2001, Pages: 206–217, Antje Bornemann and Hans H. Goebel

    Article first published online : 5 APR 2006, DOI: 10.1111/j.1750-3639.2001.tb00393.x

  17. Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy

    American Journal of Medical Genetics

    Volume 107, Issue 3, 22 January 2002, Pages: 256–258, LaRae M. Copley, Wei D. Zhao, Kevin Kopacz, Gail E. Herman, Petra Kioschis, Annemarie Poustka, Stefan Taudien and Matthias Platzer

    Article first published online : 2 JAN 2002, DOI: 10.1002/ajmg.10135

  18. 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

  19. 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

  20. Muscle function in A canine model of X-linked myotubular myopathy

    Muscle & Nerve

    Volume 46, Issue 4, October 2012, Pages: 588–591, Robert W. Grange, Jon Doering, Erin Mitchell, Melanie N. Holder, Xuan Guan, Melissa Goddard, Christopher Tegeler, Alan H. Beggs and Martin K. Childers

    Article first published online : 13 SEP 2012, DOI: 10.1002/mus.23463