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

• 2023

  • Une cible thérapeutique prometteuse dans la myopathie myotubulaire

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

    M/S : médecine / sciences ; Volume: 39 ; Page: 32-36

    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

  • BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes

    • Harmonie Perdreau-Dahl
    • David Lipsett
    • Michael Frisk
    • Fatemeh Kermani
    • Cathrine Carlson
    • Andreas Brech
    • Xin Shen
    • Anna Bergan-Dahl
    • Yufeng Hou
    • Tomi Tuomainen
    • Pasi Tavi
    • Peter Jones
    • Marianne Lunde
    • J Andrew Wasserstrom
    • Jocelyn Laporte
    • Nina Ullrich
    • Geir Christensen
    • J Preben Morth
    • William Louch
    • J. Andrew Wasserstrom
    • ...

    Circulation Research ; Volume: 132 ; Page: e188-e205

    HAL DOI

  • Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice

    • Xènia Massana-Muñoz
    • Marie Goret
    • Vasugi Nattarayan
    • David Reiss
    • Christine Kretz
    • Gaëtan Chicanne
    • Bernard Payrastre
    • Bart Vanhaesebroeck
    • Jocelyn Laporte

    JCI Insight ; Volume: 8 ; Page: e151933

    HAL DOI

  • Therapeutic approaches in different congenital myopathies

    • Charlotte Gineste
    • Jocelyn Laporte

    Current Opinion in Pharmacology ; Volume: 68 ; Page: 102328

    HAL DOI

• 2022

  • Tamoxifen improves muscle structure and function of <i>Bin1</i> - and <i>Dnm2</i> -related centronuclear myopathies

    • Charlotte Gineste
    • Alix Simon
    • Marie Braun
    • David Reiss
    • Jocelyn Laporte

    Brain - A Journal of Neurology

    HAL DOI