Jocelyn LAPORTE

Publications

• 2020

  • 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

  • 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

  • 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

• 2019

  • 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

  • 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

  • INEX-MED: a Knowledge Graph to explore and link heterogeneous bio-medical data

    • Maxime Folschette
    • Kirsley Chennen
    • Alban Gaignard
    • Richard Redon
    • Hala Skaf-Molli
    • Olivier Poch
    • Jocelyn Laporte
    • Julie D Thompson

    HAL

  • INEX-MED: INtegration and EXploration of heterogeneous bio-MEDical data, INEX-MED -INtégration et EXploration de données bioMEDicales hétérogènes l'ensemble du consortium INEX-MED

    • Alban Gaignard
    • Julie D. Thompson
    • Kirsley Chennen
    • Maxime Folschette
    • Jocelyn Laporte
    • Olivier Poch
    • Richard Redon
    • Hala Skaf-Molli

    HAL

  • 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

  • Preserved Ca2+ signaling and excitation-contraction coupling in muscle fibers from Bin1 exon-11 knockout mice.

    • Candice Kutchukian
    • Ivana Zivkovic Prokic
    • Jocelyn Laporte
    • Vincent Jacquemond

    HAL

  • Myocapture: a large-scale sequencing project to identify novel genes for myopathies

    • Xavière Lornage
    • Raphaël Schneider
    • Chrystel Chéraud
    • Edoardo Malfatti
    • Vanessa Schartner
    • Kirsley Chennen
    • Gisèle Bonne
    • Isabelle Nelson
    • Valérie Allamand
    • Juliette Nectoux
    • France Leturcq
    • Marc Bartoli
    • Martin Krahn
    • Safaa Saker
    • Clinicians And Filnemus
    • Anne Boland
    • Jean-François Deleuze
    • Biancalana Valérie
    • N.B Romero
    • Johann Böhm
    • ...

    HAL