Jocelyn LAPORTE

Publications

• 2025

  • Article in a journal

    Myomerger-derived peptide enhances skeletal muscle tropism and reduces liver transduction of lipid nanoparticles for gene delivery

    • Jacqueline Ji
    • Eva Lipkow
    • Nicolas Anton
    • Corinne Crucifix
    • Pascal Eberling
    • Jocelyn Laporte

    Molecular Therapy - Nucleic Acids ; Volume: 37 ; Page: 102785

    HALDOI

  • Article in a journal

    STIM1 Reduction Prevents Tubular Aggregate Formation and Compromises Muscle Performance in Ageing Mice

    • Laura Pérez-Guàrdia
    • Roberto Silva‐rojas
    • Jocelyn Laporte
    • Johann Böhm

    Journal of Cachexia, Sarcopenia and Muscle ; Volume: 16

    HALDOI

  • Article in a journal

    Integrative multi-omics and network analyses reveal pathogenic and protective pathways in centronuclear myopathies

    • Alix Simon
    • Charlotte Gineste
    • David Reiss
    • Julie Thompson
    • Jocelyn Laporte

    International Journal of Molecular Sciences ; Volume: 26

    HALDOI

  • Article in a journal

    Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy

    • Foteini Moschovaki-Filippidou
    • Christine Kretz
    • David Reiss
    • Gaëtan Chicanne
    • Bernard Payrastre
    • Jocelyn Laporte

    JCI Insight ; Volume: 10

    HALDOI

  • Article in a journal

    BIN1 gene replacement reverses BIN1-related centronuclear myopathy

    • Jacqueline Ji
    • Quentin Giraud
    • Nadège Diedhiou
    • Eva Lipkow
    • Coralie Spiegelhalter
    • Jocelyn Laporte

    Molecular Therapy ; Volume: 33 ; Page: 3701-3717

    HALDOI

  • Article in a journal

    Exon skipping peptide-conjugated morpholinos downregulate dynamin 2 to rescue centronuclear myopathy

    • Foteini Moschovaki-Filippidou
    • Juliana de Carvalho Neves
    • Nadège Diedhiou
    • Yahya Jad
    • Johann Böhm
    • Matthew J A Wood
    • Miguel A. Varela
    • Jocelyn Laporte

    Brain - A Journal of Neurology ; Volume: 148 ; Page: 4495-4507

    HALDOI

  • Article in a journal

    Combining dynamin 2 myopathy and neuropathy mutations rescues both phenotypes

    • Marie Goret
    • Evelina Edelweiss
    • Jérémy Jehl
    • David Reiss
    • Patricio Aguirre-Pineda
    • Sylvie Friant
    • Jocelyn Laporte

    Nature Communications ; Volume: 16 ; Page: 4667

    HALDOI

  • Article in a journal

    Transcriptomic characterization of postnatal muscle maturation in mice, with a focus on myopathy-associated genes

    • Alix Simon
    • Sarah Djeddi
    • Pauline Bournon
    • David Reiss
    • Julie Thompson
    • Jocelyn Laporte

    Disease Models & Mechanisms ; Volume: 18 ; Page: DMM052098

    HALDOI

  • Article in a journal

    BIN1 reduction ameliorates DNM2 -related Charcot–Marie–Tooth neuropathy

    • Marie Goret
    • Morgane Thomas
    • Evelina Edelweiss
    • Nadia Messaddeq
    • Jocelyn Laporte

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 122

    HALDOI

• 2024

  • Article in a journal

    Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era

    • Mai Thao Bui
    • Gorka Fernández-Eulate
    • Teresinha Evangelista
    • Emmanuelle Lacène
    • Guy Brochier
    • Clémence Labasse
    • Angéline Madelaine
    • Anaïs Chanut
    • Maud Beuvin
    • Favienne Borsato-Levy
    • Valerie Biancalana
    • Giulia Barcia
    • Pascale de Lonlay
    • Jocelyn Laporte
    • Johann Böhm
    • Norma Beatriz Romero

    Acta Neuropathologica Communications ; Volume: 12 ; Page: 191

    HALDOI