Jocelyn LAPORTE

Publications

• 2002

  • Functional redundancy in the myotubularin family

    • Jocelyn Laporte
    • Laurence Liaubet
    • François Blondeau
    • Hélène Tronchère
    • Jean-Louis Mandel
    • Bernard Payrastre

    Biochemical and Biophysical Research Communications ; Volume: 291 ; Page: 305-312

    HAL DOI

• 2001

  • Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system

    • Olivier M Dorchies
    • Jocelyn Laporte
    • Stéphanie Wagner
    • Colette Hindelang
    • Jean-Marie Warter
    • Jean-Louis Mandel
    • Philippe Poindron

    Neuromuscular Disorders ; Volume: 11 ; Page: 736-746

    HAL DOI

  • Diagnosis of X-linked myotubular myopathy by detection of myotubularin

    • Jocelyn Laporte
    • Wolfram Kress
    • Jean-Louis Mandel

    Annals of Neurology ; Volume: 50 ; Page: 42-46

    HAL DOI

• 2000

  • Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

    • François Blondeau
    • Jocelyn Laporte
    • Stephane Bodin
    • Giulio Superti-Furga
    • Bernard Payrastre
    • Jean-Louis Mandel

    Human Molecular Genetics ; Volume: 9 ; Page: 2223-2229

    HAL DOI

  • MTM1 mutations in X-linked myotubular myopathy

    • Jocelyn Laporte
    • Valérie Biancalana
    • Stephan Tanner
    • Wolfram Kress
    • Vreni Schneider
    • Carina Wallgren-Pettersson
    • Franziska Herger
    • Anna Buj-Bello
    • François Blondeau
    • Sabina Liechti-Gallati
    • Jean-Louis Mandel

    Human Mutation ; Volume: 15 ; Page: 393-409

    HAL DOI

  • MTM1 mutations in X-linked myotubular myopathy

    • Jocelyn Laporte
    • Stephan Tanner
    • Wolfram Kress
    • Vreni Schneider
    • Carina Wallgren-Pettersson
    • Franziska Herger
    • Anna Buj-Bello
    • Sabina Liechti-Gallati
    • Jean-Louis Mandel

    Human Mutation ; Volume: 15 ; Page: 393-409

    HAL DOI

• 1999

  • Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy

    • Anna Buj-Bello
    • Valérie Biancalana
    • Céline Moutou
    • Jocelyn Laporte
    • Jean-Louis Mandel

    Human Mutation ; Volume: 14 ; Page: 320-325

    HAL DOI

  • Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy

    • Anna Buj-Bello
    • Jocelyn Laporte
    • Jean-Louis Mandel

    Human Mutation ; Volume: 14 ; Page: 320-325

    HAL DOI

  • Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA

    • Xiuqing Zhang
    • Huanming Yang
    • Morten J. Corydon
    • Xiaoxiao Zhang
    • Soren Pedersen
    • Julie R. Korenberg
    • Xiao-Ning Chen
    • Jocelyn Laporte
    • Niels Gregersen
    • Erik Niebuhr
    • Guoyang Liu
    • Lars Bolund

    Genomics ; Volume: 57 ; Page: 144-151

    HAL DOI

• 1998

  • Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity

    • M. C. Vincent
    • C. Guiraud-Chaumeil
    • Jocelyn Laporte
    • S. Manouvrier-Hanu
    • Jean-Louis Mandel

    Journal of Medical Genetics ; Volume: 35 ; Page: 241-243

    HAL DOI