Jocelyn LAPORTE

Publications

• 2011

  • Article in a journal

    Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

    • Stephanie Robb
    • Caroline Sewry
    • James Dowling
    • Lucy Feng
    • Tom Cullup
    • Sue Lillis
    • Stephen Abbs
    • Melissa Lees
    • Jocelyn Laporte
    • Adnan Manzur
    • Ravi Knight
    • Kerry Mills
    • Francesco Muntoni
    • Michael Pike
    • Wolfram Kress
    • David Beeson
    • Heinz Jungbluth

    Neuromuscular Disorders ; Volume: 21 ; Page: 379-386

    HAL DOI

  • Article in a journal

    The myotubularin-desmin complex regulates mitochondria dynamics, Myotubularine et desmine

    • Karim Hnia
    • Jocelyn Laporte

    Médecine/Sciences ; Volume: 27 ; Page: 458-460

    HAL DOI

  • Article in a journal

    Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness

    • Belinda S Cowling
    • Anne Toussaint
    • Leonela Amoasii
    • Pascale Koebel
    • Arnaud Ferry
    • Laurianne Davignon
    • Ichizo Nishino
    • Jean-Louis Mandel
    • Jocelyn Laporte

    American Journal of Pathology ; Volume: 178 ; Page: 2224-2235

    HAL DOI

  • Article in a journal

    Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

    • Karim Hnia
    • Helene Tronchère
    • Kinga K Tomczak
    • Leonela Amoasii
    • Patrick Schultz
    • Alan H Beggs
    • Bernard Payrastre
    • Jean Louis Mandel
    • Jocelyn Laporte

    Journal of Clinical Investigation ; Volume: 121 ; Page: 70 - 85

    HAL DOI

  • Article in a journal

    Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy

    • Olga Koutsopoulos
    • Catherine Koch
    • Valérie Tosch
    • Johann Böhm
    • Kathryn N. North
    • Jocelyn Laporte

    PLoS ONE ; Volume: 6 ; Page: e27498

    HAL DOI

  • Article in a journal

    The phosphoinositide phosphatase MTM-1 regulates apoptotic cell corpse clearance through CED-5–CED-12 in C. elegans

    • Lukas Jakob Neukomm
    • Anne Sophie Nicot
    • Jason Michael Kinchen
    • Johann Almendinger
    • Sérgio Morgado Pinto
    • Sheng Zeng
    • Sheng Zeng
    • Kimon Doukoumetzidis
    • Helene Tronchere
    • Bernard Payrastre
    • Jocelyn Laporte
    • Michael Otmar Hengartner

    Development ; Volume: 138 ; Page: 2003--2014

    HAL DOI

• 2010

  • Article in a journal

    Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

    • Anne Toussaint
    • Belinda S Cowling
    • Karim Hnia
    • Michel Mohr
    • Anders Oldfors
    • Yannick Schwab
    • Uluç Yiş
    • Thierry Maisonobe
    • Tanya Stojkovic
    • Carina Wallgren-Pettersson
    • Vincent Laugel
    • Andoni Echaniz-Laguna
    • Jean-Louis Mandel
    • Ichizo Nishino
    • Jocelyn Laporte

    Acta Neuropathologica ; Volume: 121 ; Page: 253-266

    HAL DOI

  • Article in a journal

    MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

    • Alan H. Beggs
    • Johann Böhm
    • Elizabeth Snead
    • Marek Kozlowski
    • Marie Maurer
    • Katie Minor
    • Martin K. Childers
    • Susan M. Taylor
    • Christophe Hitte
    • James R. Mickelson
    • Ling T. Guo
    • Andrew P. Mizisin
    • Anna Buj-Bello
    • Laurent Tiret
    • Jocelyn Laporte
    • G Diane Shelton

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 107 ; Page: 14697-702

    HAL DOI

  • Article in a journal

    Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

    • Verity Mcclelland
    • Thomas Cullup
    • Istvan Bodi
    • Deborah Ruddy
    • Anna Buj-Bello
    • Valerie Biancalana
    • J. Boehm
    • Marc Bitoun
    • Owen Miller
    • Wajanat Jan
    • Esse Menson
    • Luis Amaya
    • John Trounce
    • Jocelyn Laporte
    • Shehla Mohammed
    • Caroline Sewry
    • Julian Raiman
    • Heinz Jungbluth

    American Journal of Medical Genetics Part A ; Volume: 152A ; Page: 741-747

    HAL DOI

  • Article in a journal

    Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations

    • Valérie Tosch
    • Nasim Vasli
    • Christine Kretz
    • Anne-Sophie Nicot
    • Claire Gasnier
    • Nicolas Dondaine
    • Denis Oriot
    • Magalie Barth
    • Hugues Puissant
    • Norma B. Romero
    • Carsten G. Bönnemann
    • Betty Heller
    • Gilles Duval
    • Valérie Biancalana
    • Jocelyn Laporte

    Neuromuscul Disord ; Volume: 20 ; Page: 375-381

    HAL DOI