Jocelyn LAPORTE

Publications

• 2018

  • Discordant manifestations in Italian brothers with GNE myopathy

    • Maria-Teresa Dotti
    • Alessandro Malandrini
    • Xavière Lornage
    • Andrea Mignarri
    • Teresa Anna Cantisani
    • Johann Böhm
    • Jocelyn Laporte
    • Edoardo Malfatti

    J Neurol Sci ; Volume: 386 ; Page: 1-3

    HAL DOI

  • Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome

    • Johann Bohm
    • Jocelyn Laporte

    Cell Calcium ; Volume: 76 ; Page: 1-9

    HAL DOI

  • Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy

    • Suzie Buono
    • Jacob Ross
    • Hichem Tasfaout
    • Yotam Levy
    • Christine Kretz
    • Leighla Tayefeh
    • John Matson
    • Shuling Guo
    • Pascal Kessler
    • Brett Monia
    • Marc Bitoun
    • Julien Ochala
    • Jocelyn Laporte
    • Belinda Cowling

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 115 ; Page: 11066-11071

    HAL DOI

  • Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice

    • Hichem Tasfaout
    • Valentina Lionello
    • Christine Kretz
    • Pascale Koebel
    • Nadia Messaddeq
    • Déborah Bitz
    • Jocelyn Laporte
    • Belinda Cowling

    Molecular Therary ; Volume: 26 ; Page: 1082-1092

    HAL DOI

• 2017

  • Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy

    • Delphine Trochet
    • Bernard Prudhon
    • Maud Beuvin
    • Cécile Peccate
    • Stéphanie Lorain
    • Laura Julien
    • Sofia Benkhelifa-Ziyyat
    • Aymen Rabai
    • Kamel Mamchaoui
    • Arnaud Ferry
    • Jocelyn Laporte
    • Pascale Guicheney
    • Stéphane Vassilopoulos
    • Marc Bitoun

    Circulation. Arrhythmia and electrophysiology ; Volume: 10 ; Page: 428-431

    HAL DOI

  • Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation

    • Belinda Cowling
    • Ivana Prokic
    • Hichem Tasfaout
    • Aymen Rabai
    • Frédéric Humbert
    • Bruno Rinaldi
    • Anne‐sophie Nicot
    • Christine Kretz
    • Sylvie Friant
    • Aurelien Roux
    • Jocelyn Laporte

    Journal of Clinical Investigation ; Volume: 127 ; Page: 4477-4487

    HAL DOI

  • IFN-β-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis

    • Alain Meyer
    • Gilles Laverny
    • Yves Allenbach
    • Elise Grelet
    • Vanessa Ueberschlag
    • Andoni Echaniz-Laguna
    • Béatrice Lannes
    • Ghada Alsaleh
    • Anne Laure Charles
    • François Singh
    • Joffrey Zoll
    • Evelyne Lonsdorfer
    • François Maurier
    • Olivier Boyer
    • Jacques-Eric Gottenberg
    • Anne Sophie Nicot
    • Jocelyn Laporte
    • Olivier Benveniste
    • Daniel Metzger
    • Jean Sibilia
    • ...

    Acta Neuropathologica ; Volume: 134 ; Page: 655-666

    HAL DOI

  • Myotubularins and associated neuromuscular diseases

    • Helene Tronchere
    • Alessandra Bolino
    • Jocelyn Laporte
    • Bernard Payrastre

    Journal of clinical lipidology ; Volume: 7 ; Page: 151-162

    HAL DOI

  • WANTED – Dead or alive: Myotubularins, a large disease-associated protein family

    • Matthieu Raess
    • Sylvie Friant
    • Belinda S. Cowling
    • Jocelyn Laporte

    Advances in Biological Regulation ; Volume: 63 ; Page: 49-58

    HAL DOI

  • HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

    • Yon Andoni Echaniz-Laguna
    • Xavière Lornage
    • Beatrice Lannes
    • Raphael Schneider
    • Guillaume Bierry
    • Nicolas Dondaine
    • Anne Boland
    • J Deleuze
    • Johann Bohm
    • Julie D. Thompson
    • Jocelyn Laporte
    • Valerie Biancalana

    Acta Neuropathologica ; Volume: 134 ; Page: 163-165

    HAL DOI