Jocelyn LAPORTE

Publications

• 2020

  • Article in a journal

    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

  • Article in a journal

    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

• 2019

  • Article in a journal

    BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr348 phosphorylation

    • Maxime Sartori
    • Tiago P. Mendes
    • Shruti Desai
    • Alessia Lasorsa
    • Adrien Herledan
    • Nicolas Malmanche
    • Petra Mäkinen
    • Mikael Marttinen
    • Idir Malki
    • Julien Chapuis
    • Amandine Flaig
    • Anaïs-Camille Vreulx
    • Marion Ciancia
    • Philippe Amouyel
    • Florence Leroux
    • Benoit Déprez
    • François-Xavier Cantrelle
    • Damien Marechal
    • Laurent Pradier
    • Mikko Hiltunen
    • ...

    Acta Neuropathologica ; Volume: 138 ; Page: 631-652

    HAL DOI

  • Article in a journal

    214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015

    • Alan H. Beggs
    • Gisèle Bonne
    • Carsten Bönnemann
    • Sandra Donkervoort
    • James J. Dowling
    • Victor Dubowitz
    • Michael Goldberg
    • Morton Goldberg
    • Yann Hérault
    • Mert Karakaya
    • Jocelyn Laporte
    • Anne Lennox
    • Daniel Macarthur
    • Eduardo Malfatti
    • Katherine Mathews
    • Marina Mora
    • Ichizo Nishino
    • Emily Oates
    • Anne Rutkowski
    • Melanie Spring
    • ...

    Neuromuscular Disorders ; Volume: 29 ; Page: 644-650

    HAL DOI

  • Article in a journal

    Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes

    • Aymen Rabai
    • Léa Reisser
    • Bernardo Reina-San-Martin
    • Kamel Mamchaoui
    • Belinda S. Cowling
    • Anne-Sophie Nicot
    • Jocelyn Laporte

    Molecular Therapy - Nucleic Acids

    HAL DOI

  • Article in a journal

    Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

    • Valentina Lionello
    • Anne-Sophie Nicot
    • Maxime Sartori
    • Christine Kretz
    • Pascal Kessler
    • Suzie Buono
    • Sarah Djerroud
    • Nadia Messaddeq
    • Pascale Koebel
    • Ivana Zivkovic Prokic
    • Yann Hérault
    • Norma B Romero
    • Jocelyn Laporte
    • Belinda S. Cowling

    Science Translational Medicine ; Volume: 11 ; Page: eaav1866

    HAL DOI

  • Article in a journal

    ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

    • Matteo Garibaldi
    • John Rendu
    • Julie Brocard
    • Emmanuelle Lacène
    • Julien Fauré
    • Guy Brochier
    • Maud Beuvin
    • Clémence Labasse
    • Angéline Madelaine
    • Edoardo Malfatti
    • Jorge Alfredo Bevilacqua
    • Fabiana Lubieniecki
    • Soledad Monges
    • Ana Lía Taratuto
    • Jocelyn Laporte
    • Isabelle Marty
    • Giovanni Antonini
    • Norma Beatriz Romero

    Acta Neuropathologica Communications ; Volume: 7

    HAL DOI

  • Article in a journal

    Clinical, histological, and genetic characterization of PYROXD1-related myopathy

    • Xavière Lornage
    • Vanessa Schartner
    • Inès Balbueno
    • Valérie Biancalana
    • Tracey Willis
    • Andoni Echaniz-Laguna
    • Sophie Scheidecker
    • Ros Quinlivan
    • Michel Fardeau
    • Edoardo Malfatti
    • Béatrice Lannes
    • Caroline Sewry
    • Norma B. Romero
    • Jocelyn Laporte
    • Johann Böhm

    Acta Neuropathologica Communications ; Volume: 7 ; Page: 138

    HAL DOI

  • Article in a journal

    Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia

    • M Pinto
    • S Monges
    • E Malfatti
    • F Lubieniecki
    • Xavière Lornage
    • L Alias
    • C Labasse
    • A Madelaine
    • M Fardeau
    • Jocelyn Laporte
    • E Tizzano
    • N Romero

    Muscle & Nerve ; Volume: 59 ; Page: 137-141

    HAL DOI

  • Article in a journal

    Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy

    • Xènia Massana Munoz
    • Suzie Buono
    • Pascale Koebel
    • Jocelyn Laporte
    • Belinda Cowling

    Human Molecular Genetics ; Volume: 28 ; Page: 4067-4077

    HAL DOI