Jocelyn LAPORTE

Publications

• 2020

  • ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

    • Rocío Villar‐quiles
    • Fabio Catervi
    • Eva Cabet
    • Raul Juntas-Morales
    • Casie A Genetti
    • Teresa Gidaro
    • Asuman Koparir
    • Adnan Yüksel
    • Sandra Coppens
    • Nicolas Deconinck
    • Emma Pierce‐hoffman
    • Xavière Lornage
    • Julien Durigneux
    • Jocelyn Laporte
    • John Rendu
    • Norma B Romero
    • Alan H Beggs
    • Laurent Servais
    • Mireille Cossée
    • Montse Olivé
    • ...

    Annals of Neurology ; Volume: 87 ; Page: 217-232

    HAL DOI

  • Attitudes towards Genetic Information Delivered by High-Throughput Sequencing among Molecular Geneticists, Genetic Counselors, Medical Advisors and Students in France

    • Vlad Titerlea
    • Doulaye Dembélé
    • Jean-Louis Mandel
    • Jocelyn Laporte

    European Journal of Medical Genetics ; Volume: 63

    HAL DOI

  • rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

    • Jacob Ross
    • Hichem Tasfaout
    • Yotam Levy
    • Jennifer Morgan
    • Belinda Cowling
    • Jocelyn Laporte
    • Edmar Zanoteli
    • Norma Romero
    • Dawn Lowe
    • Heinz Jungbluth
    • Michael Lawlor
    • David Mack
    • Julien Ochala

    Acta Neuropathologica Communications ; Volume: 8 ; Page: 167

    HAL DOI

  • Asymmetric muscle weakness due to ACTA1 mosaic mutations

    • Xaviére Lornage
    • Susana Quijano-Roy
    • Robert Yves Carlier
    • Nicole Monnier
    • Jean François Deleuze
    • Norma Beatriz Romero
    • Jocelyn Laporte
    • Johann Böhm
    • Helge Amthor

    Neurology ; Volume: 95 ; Page: e3406-e3411

    HAL DOI

  • Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration

    • Ivana Prokic
    • Belinda S Cowling
    • Candice Kutchukian
    • Christine Kretz
    • Hichem Tasfaout
    • Vincent Gache
    • Josiane Hergueux
    • Olivia Wendling
    • Arnaud Ferry
    • Anne Toussaint
    • Christos Gavriilidis
    • Vasugi Nattarayan
    • Catherine Koch
    • Jeanne Lainé
    • Roy Combe
    • Laurent Tiret
    • Vincent Jacquemond
    • Fanny Pilot-Storck
    • Jocelyn Laporte

    Disease Models & Mechanisms

    HAL DOI

  • Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

    • Gilles Morin
    • Valérie Biancalana
    • Andoni Echaniz-Laguna
    • Jean-Baptiste Noury
    • Xavière Lornage
    • Maurizio Moggio
    • Michela Ripolone
    • Raffaella Violano
    • Pascale Marcorelles
    • Denis Maréchal
    • Florence Renaud
    • Claude-Alain Maurage
    • Céline Tard
    • Jean-Marie Cuisset
    • Jocelyn Laporte
    • Johann Böhm

    Human Mutation ; Volume: 41 ; Page: 17-37

    HAL DOI

  • A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers

    • Teresinha Evangelista
    • Xavière Lornage
    • Pierre Carlier
    • Guillaume Bassez
    • Guy Brochier
    • Anaïs Chanut
    • Emmanuelle Lacène
    • Mai-Thao Bui
    • Corinne Metay
    • Ursula Oppermann
    • Johann Böhm
    • Jocelyn Laporte
    • Norma Romero

    Journal of Neurology, Neurosurgery and Psychiatry ; Volume: 79 ; Page: 908-914

    HAL DOI

  • GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

    • A. Reghan Foley
    • Yaqun Zou
    • James E. Dunford
    • Jachinta Rooney
    • Goutam Chandra
    • Hui Xiong
    • V. Straub
    • Thomas Voit
    • Norma Beatriz Romero
    • Sandra Donkervoort
    • Ying Hu
    • Thomas C. Markello
    • Adam Horn
    • Leila Qebibo
    • Jahannaz Dastgir
    • Katherine Gloria Meilleur
    • Richard S. Finkel
    • Yanbin Fan
    • Kamel Mamchaoui
    • Stéphanie Marie Rose Duguez
    • ...

    Annals of Neurology ; Volume: 88 ; Page: 332-347

    HAL DOI

  • A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation

    • Andoni Echaniz-Laguna
    • Xaviére Lornage
    • Pascal Laforêt
    • Mette Cathrine Orngreen
    • Evelina F. Edelweiss
    • Guy Brochier
    • Mai Thao Bui
    • Roberto Silva-Rojas
    • Catherine Birck
    • Béatrice Lannes
    • Norma Beatriz Romero
    • John Vissing
    • Jocelyn Laporte
    • Johann Böhm

    Annals of Neurology ; Volume: 88 ; Page: 274-282

    HAL DOI

  • Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome

    • Georges Peche
    • Coralie Spiegelhalter
    • Roberto Silva Rojas
    • Jocelyn Laporte
    • Johann Böhm

    Neuropathology ; Volume: 40 ; Page: 559-569

    HAL DOI