Jocelyn LAPORTE

Publications

• 2013

  • Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

    • Edoardo Malfatti
    • Ursula Schaeffer
    • Françoise Chapon
    • Yage Yang
    • Bruno Eymard
    • Ran Xu
    • Jocelyn Laporte
    • Norma Beatriz Romero

    Neuromuscular Disorders ; Volume: 23 ; Page: 992-997

    HAL DOI

  • Recessive truncating titin gene, TTN , mutations presenting as centronuclear myopathy

    • Ozge Ceyhan-Birsoy
    • Pankaj Agrawal
    • Carlos Hidalgo
    • Klaus Schmitz-Abe
    • Elizabeth Dechene
    • Lindsay Swanson
    • Rachel Soemedi
    • Nasim Vasli
    • Susan Iannaccone
    • Perry Shieh
    • Natasha Shur
    • Jane Dennison
    • Michael Lawlor
    • Jocelyn Laporte
    • Kyriacos Markianos
    • William Fairbrother
    • Henk Granzier
    • Alan Beggs

    Neurology ; Volume: 81 ; Page: 1205-1214

    HAL DOI

  • The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

    • Barbara Royer
    • Karim Hnia
    • Christos Gavriilidis
    • Helene Tronchere
    • Valérie Tosch
    • Jocelyn Laporte

    EMBO Reports ; Volume: 14 ; Page: 907-915

    HAL DOI

  • Adult centronuclear myopathies: A hospital-based study, Les myopathies centronucléaires de l’adulte : une étude monocentrique rétrospective

    • Andoni Echaniz‐laguna
    • Valerie Biancalana
    • Johann Böhm
    • Christine Tranchant
    • Jean-Louis Mandel
    • Jocelyn Laporte

    Revue Neurologique ; Volume: 169 ; Page: 625-631

    HAL DOI

  • Extensive morphological and immunohistochemical characterization in myotubular myopathy

    • Minobu Shichiji
    • Valerie Biancalana
    • Michel Fardeau
    • Jean‐yves Hogrel
    • Makiko Osawa
    • Jocelyn Laporte
    • Norma Beatriz Romero

    Brain and Behavior ; Volume: 3 ; Page: 476-486

    HAL DOI

  • Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways

    • Lama Al-Qusairi
    • Ivana Prokic
    • Leonela Amoasii
    • Christine Kretz
    • Nadia Messaddeq
    • Jean-Louis Mandel
    • Jocelyn Laporte

    FASEB Journal ; Volume: 27 ; Page: 3384-3394

    HAL DOI

  • Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.

    • Leonela Amoasii
    • Karim Hnia
    • Gaëtan Chicanne
    • Andreas Brech
    • Belinda S Cowling
    • Martin Michael Müller
    • Yannick Schwab
    • Pascale Koebel
    • Arnaud Ferry
    • Bernard Payrastre
    • Jocelyn Laporte

    Journal of Cell Science ; Volume: 126 ; Page: 1806-19

    HAL DOI

  • Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

    • Johann Böhm
    • Nasim Vasli
    • Marie Maurer
    • Belinda Cowling
    • G. Diane Shelton
    • Wolfram Kress
    • Anne Toussaint
    • Ivana Prokic
    • Ulrike Schara
    • Thomas James Anderson
    • Joachim Weis
    • Laurent Tiret
    • Jocelyn Laporte

    PLoS Genetics ; Volume: 9, online ; Page: Non paginé

    HAL DOI

  • Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

    • Johann Böhm
    • Frédéric Chevessier
    • André Maues de Paula
    • Catherine Koch
    • Shahram Attarian
    • Claire Feger
    • Daniel Hantaï
    • Pascal Laforêt
    • Karima Ghorab
    • Jean-Michel Vallat
    • Michel Fardeau
    • Dominique Figarella-Branger
    • Jean Pouget
    • Norma B. Romero
    • Marc Koch
    • Claudine Ebel
    • Nicolas Lévy
    • Martin Krahn
    • Bruno Eymard
    • Marc Bartoli
    • ...

    American Journal of Human Genetics ; Volume: 92 ; Page: 271-278

    HAL DOI

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

    • Nasim Vasli
    • Jocelyn Laporte

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

    HAL DOI