Jocelyn LAPORTE

Publications

• 2013

  • Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

    • Nasim Vasli
    • Jocelyn Laporte

    Acta Neuropathologica ; Volume: 125 ; Page: 173--185

    HAL DOI

• 2012

  • Myotubularin Phosphoinositide Phosphatases in Human Diseases

    • Leonela Amoasii
    • Karim Hnia
    • Jocelyn Laporte

    Phosphoinositides and Disease ; Volume: 362 ; Page: 209-233

    HAL DOI

  • Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

    • Johann Böhm
    • Esther Leshinsky-Silver
    • Stéphane Vassilopoulos
    • Stéphanie Le Gras
    • Tally Lerman-Sagie
    • Mira Ginzberg
    • Bernard Jost
    • Dorit Lev
    • Jocelyn Laporte

    Acta Neuropathologica ; Volume: 124 ; Page: 575-581

    HAL DOI

  • Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

    • Johann Böhm
    • Valérie Biancalana
    • Elizabeth T Dechene
    • Marc Bitoun
    • Christophe 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
    • ...

    Human Mutation ; Volume: 33 ; Page: 949 - 959

    HAL DOI

  • Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology

    • Karim Hnia
    • Ilaria Vaccari
    • Alessandra Bolino
    • Jocelyn Laporte

    Trends in Molecular Medicine ; Volume: 18 ; Page: 317-327

    HAL DOI

  • Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models

    • Belinda S Cowling
    • Anne Toussaint
    • Jean Muller
    • Jocelyn Laporte

    PLoS Genetics ; Volume: 8 ; Page: e1002595

    HAL DOI

  • Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype

    • Nasim Vasli
    • Vincent Laugel
    • Johann Böhm
    • Béatrice Lannes
    • Valerie Biancalana
    • Jocelyn Laporte

    European Journal of Human Genetics ; Volume: 20 ; Page: 701-704

    HAL DOI

  • Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle

    • Karim Hnia
    • Christine Kretz
    • Leonela Amoasii
    • Johann Böhm
    • Xia Liu
    • Nadia Messaddeq
    • Cheng-Kui Qu
    • Jocelyn Laporte

    Advances in Biological Regulation ; Volume: 52 ; Page: 98-107

    HAL DOI

  • Next generation sequencing for molecular diagnosis of neuromuscular diseases

    • Nasim Vasli
    • Johann Böhm
    • Stéphanie Le Gras
    • Jean Muller
    • Cécile Pizot
    • Bernard Jost
    • Andoni Echaniz‐laguna
    • Vincent Laugel
    • Christine Tranchant
    • Rafaelle Bernard
    • Frederic Plewniak
    • Serge Vicaire
    • Nicolas Levy
    • Jamel Chelly
    • Jean-Louis Mandel
    • Valerie Biancalana
    • Jocelyn Laporte

    Acta Neuropathologica ; Volume: 124 ; Page: 273 - 283

    HAL DOI

  • Clinical utility gene card for: Centronuclear and myotubular myopathies

    • Valerie Biancalana
    • Alan H. Beggs
    • Soma Das
    • Heinz Jungbluth
    • Wolfram Kress
    • Ichizo Nishino
    • Kathryn N. North
    • Norma Beatriz Romero
    • Jocelyn Laporte

    European Journal of Human Genetics ; Volume: 20 ; Page: 1101--1101

    HAL DOI