Jocelyn LAPORTE

Publications

• 2012

  • Clinical utility gene card for: Centronuclear and myotubular myopathies

    • Valerie Biancalana
    • Alan H. Beggs
    • Soma Das
    • Heinz Jungbluth
    • Wolfram Kress
    • Ichizo Nishino
    • Kathryn N. North
    • Norma Beatriz Romero
    • Jocelyn Laporte

    European Journal of Human Genetics ; Volume: 20 ; Page: 1101--1101

    HAL DOI

  • Next generation sequencing for molecular diagnosis of neuromuscular diseases

    • Nasim Vasli
    • Johann Böhm
    • Stéphanie Le Gras
    • Jean Muller
    • Cécile Pizot
    • Bernard Jost
    • Andoni Echaniz‐laguna
    • Vincent Laugel
    • Christine Tranchant
    • Rafaelle Bernard
    • Frederic Plewniak
    • Serge Vicaire
    • Nicolas Levy
    • Jamel Chelly
    • Jean-Louis Mandel
    • Valerie Biancalana
    • Jocelyn Laporte

    Acta Neuropathologica ; Volume: 124 ; Page: 273 - 283

    HAL DOI

• 2011

  • T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases.

    • Lama Al-Qusairi
    • Jocelyn Laporte

    Skeletal Muscle ; Volume: 1 ; Page: 26

    HAL DOI

  • Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

    • Charlotte Fugier
    • Arnaud F Klein
    • Caroline Hammer
    • Stéphane Vassilopoulos
    • Ylva Ivarsson
    • Anne Toussaint
    • Valérie Tosch
    • Alban Vignaud
    • Arnaud Ferry
    • Nadia Messaddeq
    • Yosuke Kokunai
    • Rie Tsuburaya
    • Pierre de La Grange
    • Doulaye Dembele
    • Virginie Francois
    • Guillaume Precigout
    • Charlotte Boulade-Ladame
    • Marie-Christine Hummel
    • Adolfo Lopez de Munain
    • Nicolas Sergeant
    • ...

    Nature Medicine ; Volume: 17 ; Page: 720-5

    HAL DOI

  • 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

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

    • Karim Hnia
    • Jocelyn Laporte

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

    HAL DOI

  • 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

  • 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

  • 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

  • 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