Jocelyn LAPORTE

Publications

• 2010

  • Article in a journal

    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

  • Article in a journal

    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

  • 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

  • Article in a journal

    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

• 2009

  • Article in a journal

    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

  • Article in a journal

    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

  • Article in a journal

    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

  • Article in a journal

    Dementia in a child with myotubular myopathy.

    • Heather J. Mccrea
    • Christine Kretz
    • Jocelyn Laporte
    • Laura R. Ment

    Pediatric Neurology ; Volume: 40 ; Page: 483-5

    HAL DOI

  • Article in a journal

    MAMLD1 (CXorf6): A New Gene Involved in Hypospadias.

    • Tsutomu Ogata
    • Jocelyn Laporte
    • Maki Fukami

    Hormone Research in Paediatrics ; Volume: 71 ; Page: 245-252

    HAL DOI

• 2008

  • Article in a journal

    PtdIns5P regulation through evolution: roles in membrane trafficking?

    • Odile Lecompte
    • Olivier Poch
    • Jocelyn Laporte

    Trends in Biochemical Sciences ; Volume: 33 ; Page: 453-60

    HAL DOI