Jocelyn LAPORTE

Publications

• 2023

  • Article in a journal

    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

  • Article in a journal

    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

  • Article in a journal

    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

  • Article in a journal

    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

  • Article in a journal

    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

  • Article in a journal

    Therapeutic approaches in different congenital myopathies

    • Charlotte Gineste
    • Jocelyn Laporte

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

    HAL DOI

• 2022

  • Article in a journal

    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

  • Article in a journal

    Mutation update for the ACTN2 gene

    • Johanna Ranta-Aho
    • Montse Olive
    • Marie Vandroux
    • Giorgia Roticiani
    • Cristina Dominguez
    • Mridul Johari
    • Annalaura Torella
    • Johann Böhm
    • Janina Turon
    • Vincenzo Nigro
    • Peter Hackman
    • Jocelyn Laporte
    • Bjarne Udd
    • Marco Savarese

    Human Mutation ; Volume: 43 ; Page: 1745-1756

    HAL DOI

  • Article in a journal

    Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

    • Clémence Labasse
    • Guy Brochier
    • Ana-Lia Taratuto
    • Bruno Cadot
    • John Rendu
    • Soledad Monges
    • Valérie Biancalana
    • Susana Quijano-Roy
    • Mai Thao Bui
    • Anaïs Chanut
    • Angéline Madelaine
    • Emmanuelle Lacène
    • Maud Beuvin
    • Helge Amthor
    • Laurent Servais
    • Yvan de Feraudy
    • Marcela Erro
    • Maria Saccoliti
    • Osorio Abath Neto
    • Julien Fauré
    • ...

    Acta Neuropathologica Communications ; Volume: 10 ; Page: 101

    HAL DOI

  • Pre-publication, Working Document

    BIN1/Amphiphysin 2 and ezrin drive filopodia-like structures in myoblasts

    • Laura Picas
    • Franck Comunale
    • Charlotte André-Arpin
    • Hugo Bousquet
    • Feng-Ching Tsai
    • Félix Rico
    • Paolo Maiuri
    • Julien Pernier
    • Stéphane Bodin
    • Anne-Sophie Nicot
    • Jocelyn Laporte
    • Patricia Bassereau
    • Bruno Goud
    • Cécile Gauthier-Rouvière
    • Stéphanie Miserey-Lenkei

    HAL DOI