Jocelyn LAPORTE

Publications

• 2020

  • Article in a journal

    Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

    • Catherine Koch
    • Suzie Buono
    • Alexia Menuet
    • Anne Robé
    • Sarah Djeddi
    • Christine Kretz
    • Raquel Gomez Oca
    • Marion Depla
    • Arnaud Monseur
    • Leen Thielemans
    • Laurent Servais
    • Jocelyn Laporte
    • Belinda Cowling

    Molecular Therapy - Methods and Clinical Development ; Volume: 17 ; Page: 1178-1189

    HAL DOI

  • Article in a journal

    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

• 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

    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

    Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies

    • Vanessa Schartner
    • Jocelyn Laporte
    • Johann Böhm

    Journal of Neuromuscular Diseases ; Volume: 6 ; Page: 289 - 305

    HAL DOI

  • Article in a journal

    La myopathie liée à PYROXD1: Caractérisation clinique, histologique, et génétique. [PYROXD1-related myopathy]

    • Xavière Lornage
    • Norma Romero
    • Jocelyn Laporte
    • Johann Bohm

    Médecine/Sciences ; Volume: 35 ; Page: 43-44

    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