Jocelyn LAPORTE

Publications

• 2013

  • 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

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

    • Nasim Vasli
    • Jocelyn Laporte

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

    HAL DOI

  • Centronuclear Myopathies

    • Norma Beatriz Romero
    • Jocelyn Laporte

    Muscle Disease: Pathology and Genetics, Second edition ; Page: 134-144

    HAL DOI

  • Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish

    • Vandana A. Gupta
    • Karim Hnia
    • Laura L. Smith
    • Stacey R. Gundry
    • Jessica E. Mcintire
    • Junko Shimazu
    • Jessica R. Bass
    • Ethan A. Talbot
    • Leonela Amoasii
    • Nathaniel E. Goldman
    • Jocelyn Laporte
    • Alan H. Beggs

    PLoS Genetics ; Volume: 9 ; Page: e1003583

    HAL DOI

  • Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

    • Olga Koutsopoulos
    • Christine Kretz
    • Claudia Weller
    • Aurélien Roux
    • Halina Mojzisova
    • Johann Böhm
    • Catherine Koch
    • Anne Toussaint
    • Emilie Heckel
    • Daphne Stemkens
    • Simone ter Horst
    • Christelle Thibault
    • Muriel Koch
    • Syed Mehdi
    • Emilia Bijlsma
    • Jean-Louis Mandel
    • Julien Vermot
    • Jocelyn Laporte

    European Journal of Human Genetics ; Volume: 21 ; Page: 637-342

    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