Jocelyn LAPORTE

Publications

• 2024

  • Comparative in vivo characterization of newly discovered myotropic adeno-associated vectors

    • Jacqueline Ji
    • Elise Lefebvre
    • Jocelyn Laporte

    Skeletal Muscle ; Volume: 14

    HAL DOI

  • Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

    • Ana Töpf
    • Dan Cox
    • Irina T. Zaharieva
    • Valeria Di Leo
    • Jaakko Sarparanta
    • Per Harald Jonson
    • Ian M. Sealy
    • Andrei Smolnikov
    • Richard J. White
    • Anna Vihola
    • Marco Savarese
    • Munise Merteroglu
    • Neha Wali
    • Kristen M. Laricchia
    • Cristina Venturini
    • Bas Vroling
    • Sarah L. Stenton
    • Beryl B. Cummings
    • Elizabeth Harris
    • Chiara Marini-Bettolo
    • ...

    Nature Genetics ; Volume: 56 ; Page: 395-407

    HAL DOI

  • Une cible thérapeutique contre la myopathie myotubulaire

    • Marie Goret
    • Jocelyn Laporte

    Médecine/Sciences ; Volume: 40 ; Page: 133-136

    HAL DOI

  • The Rogdi knockout mouse is a model for Kohlschütter–Tönz syndrome

    • Alexandra Jimenez-Armijo
    • Supawich Morkmued
    • José Tomás Ahumada
    • Naji Kharouf
    • Yvan de Feraudy
    • Gergo Gogl
    • Fabrice Riet
    • Karen Niederreither
    • Jocelyn Laporte
    • Marie Christine Birling
    • Mohammed Selloum
    • Yann Hérault
    • Magali Hernandez
    • Agnès Bloch-Zupan

    Scientific Reports ; Volume: 14 ; Page: 445

    HAL DOI

  • IMPatienT: an Integrated web application to digitize, process and explore Multimodal PATIENt daTa

    • Corentin Meyer
    • Norma Romero
    • Teresinha Evangelista
    • Brunot Cadot
    • Jocelyn Laporte
    • Anne Jeannin-Girardon
    • Pierre Collet
    • Kirsley Chennen
    • Olivier Poch

    Journal of Neuromuscular Diseases ; Page: Online ahead of print

    HAL DOI

• 2023

  • Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation

    • Laura Vanden Brande
    • Stéphanie Bauché
    • Laura Pérez-Guàrdia
    • Damien Sternberg
    • Andreea Seferian
    • Edoardo Malfatti
    • Roberto Silva-Rojas
    • Clémence Labasse
    • Frédéric Chevessier
    • Pierre Carlier
    • Bruno Eymard
    • Norma Romero
    • Jocelyn Laporte
    • Laurent Servais
    • Teresa Gidaro
    • Johann Böhm

    Neuropathology and Applied Neurobiology ; Volume: 50

    HAL DOI

  • Une cible thérapeutique prometteuse dans la myopathie myotubulaire

    • Marie Goret
    • Xènia Massana Muñoz
    • Vasugi Nattarayan
    • David Reiss
    • Jocelyn Laporte

    Médecine/Sciences ; Volume: 39 ; Page: 32-36

    HAL DOI

  • Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S -related myopathy

    • Yukari Endo
    • Linda Groom
    • Sabrina Wang
    • Emanuela Pannia
    • Nigel Griffiths
    • Jenica van Gennip
    • Brian Ciruna
    • Jocelyn Laporte
    • Robert Dirksen
    • James Dowling

    Human Molecular Genetics ; Volume: 33 ; Page: 254-269

    HAL DOI

  • MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy

    • Quentin Giraud
    • Coralie Spiegelhalter
    • Nadia Messaddeq
    • Jocelyn Laporte

    Brain - A Journal of Neurology ; Volume: 146 ; Page: 4158-4173

    HAL DOI

  • DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy

    • Juliana de Carvalho Neves
    • Foteini Moschovaki-Filippidou
    • Johann Böhm
    • Jocelyn Laporte

    Molecular Therapy - Nucleic Acids ; Volume: 33 ; Page: 321-334

    HAL DOI