Jocelyn LAPORTE

Publications

• 2020

  • 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

  • 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

  • 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

  • Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures

    • Johann Böhm
    • Edoardo Malfatti
    • Emily Oates
    • Kristi Jones
    • Guy Brochier
    • Anne Boland
    • Jean-François Deleuze
    • Norma Beatriz Romero
    • Jocelyn Laporte

    Journal of Medical Genetics ; Volume: 56 ; Page: 617-621

    HAL DOI