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There are 2805 results for: content related to: Germline mosaicism in X-linked myotubular myopathy

  1. 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

    Version of Record online : 3 JAN 2008, DOI: 10.1080/15216540210812

  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 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

  4. You have free access to this content
    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

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

  5. You have free access to this content
    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

    Version of Record online : 30 MAR 2012, DOI: 10.1111/j.1365-313X.2012.04936.x

  6. You have free access to this content
    The Myotubularin Family of Lipid Phosphatases

    Traffic

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

    Version of Record 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

    Traffic

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

    Version of Record online : 24 APR 2007, DOI: 10.1111/j.1600-0854.2007.00586.x

  8. 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

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

  9. 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

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

  10. 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

    Version of Record online : 7 JAN 2002, DOI: 10.1002/humu.10033

  11. You have free access to this content
    Phosphoinositide signaling disorders in human diseases

    FEBS Letters

    Volume 546, Issue 1, July 03, 2003, Pages: 25–31, Caroline Pendaries, Hélène Tronchère, Monique Plantavid and Bernard Payrastre

    Version of Record online : 30 APR 2003, DOI: 10.1016/S0014-5793(03)00437-X

  12. 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

  13. You have free access to this content
    Protein tyrosine phosphatases: dual-specificity phosphatases in health and disease

    The FEBS Journal

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

    Version of Record online : 8 FEB 2008, DOI: 10.1111/j.1742-4658.2008.06250.x

  14. You have free access to this content
    Regulation of Sertoli Cell Myotubularin (rMTM) Expression by Germ Cells In Vitro

    Journal of Andrology

    Volume 22, Issue 2, March-April 2001, Pages: 266–277, JONATHAN C. H. LI, WILL M. LEE, DOLORES MRUK and C. YAN CHENG

    Version of Record online : 2 JAN 2013, DOI: 10.1002/j.1939-4640.2001.tb02180.x

  15. You have free access to this content
    Receptor mediated endocytosis 8 is a novel PI(3)P binding protein regulated by myotubularin-related 2

    FEBS Letters

    Volume 585, Issue 12, June 23, 2011, Pages: 1722–1728, Besa Xhabija, Gregory S. Taylor, Akemi Fujibayashi, Kiyotoshi Sekiguchi and Panayiotis O. Vacratsis

    Version of Record online : 15 APR 2011, DOI: 10.1016/j.febslet.2011.04.016

  16. Rat testicular myotubularin, a protein tyrosine phosphatase expressed by Sertoli and germ cells, is a potential marker for studying cell–cell interactions in the rat testis

    Journal of Cellular Physiology

    Volume 185, Issue 3, December 2000, Pages: 366–385, Jonathan C.H. Li, Eileen T. Samy, Josephine Grima, Sanny S.W. Chung, Dolores Mruk, Will M. Lee, Bruno Silvestrini and C. Yan Cheng

    Version of Record online : 25 OCT 2000, DOI: 10.1002/1097-4652(200012)185:3<366::AID-JCP7>3.0.CO;2-1

  17. You have free access to this content
    A Drosophila-centric view of protein tyrosine phosphatases

    FEBS Letters

    Volume 589, Issue 9, April 13, 2015, Pages: 951–966, Teri Hatzihristidis, Nikita Desai, Andrew P. Hutchins, Tzu-Ching Meng, Michel L. Tremblay and Diego Miranda-Saavedra

    Version of Record online : 13 MAR 2015, DOI: 10.1016/j.febslet.2015.03.005

  18. 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

    Version of Record online : 2 FEB 2005, DOI: 10.1002/ajmg.a.30574

  19. 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

    Version of Record online : 2 JAN 2002, DOI: 10.1002/ajmg.10135

  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

    Version of Record online : 13 SEP 2012, DOI: 10.1002/mus.23463