Jocelyn LAPORTE

Publications

• 2010

  • 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

  • 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

  • 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

  • Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

    • K Claeys
    • T Maisonobe
    • Johann Böhm
    • Jocelyn Laporte
    • M Hezode
    • N Romero
    • G Brochier
    • M Bitoun
    • R Carlier
    • T Stojkovic

    Neurology ; Volume: 74 ; Page: 519-521

    HAL DOI

  • From Dynamic Live Cell Imaging to 3D Ultrastructure: Novel Integrated Methods for High Pressure Freezing and Correlative Light-Electron Microscopy.

    • Coralie Spiegelhalter
    • Valérie Tosch
    • Didier Hentsch
    • Marc Koch
    • Pascal Kessler
    • Yannick Schwab
    • Jocelyn Laporte

    PLoS ONE ; Volume: 5 ; Page: e9014

    HAL DOI

  • Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

    • Atle Melberg
    • Christine Kretz
    • Hannu Kalimo
    • Carina Wallgren-Pettersson
    • Anne Toussaint
    • Johann Böhm
    • Erik Stålberg
    • Jocelyn Laporte

    Neuromuscul Disord ; Volume: 20 ; Page: 53-56

    HAL DOI

  • Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

    • Johann Böhm
    • Uluç Yiş
    • Ragip Ortaç
    • Handan Çakmakçi
    • Semra Hiz Kurul
    • Eray Dirik
    • Jocelyn Laporte

    Orphanet Journal of Rare Diseases ; Volume: 5 ; Page: 35

    HAL DOI

• 2009

  • T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

    • Lama Al-Qusairi
    • Norbert Weiss
    • Anne Toussaint
    • Céline Berbey
    • Nadia Messaddeq
    • Christine Kretz
    • Despina Sanoudou
    • Alan Beggs
    • Bruno Allard
    • Jean-Louis Mandel
    • Jocelyn Laporte
    • Vincent Jacquemond
    • Anna Buj-Bello

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 106 ; Page: 18763-18768

    HAL DOI

  • 164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands

    • Heinz Jungbluth
    • Carina Wallgren-Pettersson
    • Jocelyn Laporte

    Neuromuscul Disord ; Volume: 19 ; Page: 721-729

    HAL DOI

  • Control of autophagy initiation by phosphoinositide 3-phosphatase jumpy.

    • Isabelle Vergne
    • Esteban Roberts
    • Rasha A. Elmaoued
    • Valérie Tosch
    • Mónica A. Delgado
    • Tassula Proikas-Cezanne
    • Jocelyn Laporte
    • Vojo Deretic

    EMBO Journal ; Volume: 28 ; Page: 2244-2258

    HAL DOI