Jocelyn LAPORTE

Publications

• 2018

  • Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy

    • Elinam Gayi
    • Laurence Neff
    • Xènia Massana Munoz
    • Hesham Ismail
    • Marta Sierra
    • Thomas Mercier
    • Laurent Decosterd
    • Jocelyn Laporte
    • Belinda Cowling
    • Olivier Dorchies
    • Leonardo Scapozza

    Nature Communications ; Volume: 9

    HAL DOI

  • Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

    • Valérie Biancalana
    • Norma Romero
    • Inger Johanne Thuestad
    • Jaakko Ignatius
    • Janne Kataja
    • Maria Gardberg
    • Dephine Héron
    • Edoardo Malfatti
    • Anders Oldfors
    • Jocelyn Laporte

    Acta Neuropathologica Communications ; Volume: 6

    HAL DOI

  • The MTM1–UBQLN2–HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle

    • Christos Gavriilidis
    • Leila Laredj
    • Romain Solinhac
    • Nadia Messaddeq
    • Julien Viaud
    • Jocelyn Laporte
    • Izabela Sumara
    • Karim Hnia

    Nature Cell Biology ; Volume: 20 ; Page: 198-210

    HAL DOI

  • Analyse intégrée du grand projet de séquençage MYOCAPTURE d’identification de nouveaux gènes de myopathies

    • Jocelyn Laporte
    • Raphael Schneider
    • Edoardo Malfatti
    • Gisèle Bonne
    • France Leturcq
    • Juliette Nectoux
    • Isabelle Nelson
    • Isabelle Richard
    • Martin Krahn
    • Safaa Saker
    • Marc Bartoli
    • Valérie Biancalana
    • Anne Boland
    • Julie Thompson
    • Norma Romero
    • Johann Böhm

    HAL

  • Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome

    • Johann Bohm
    • Jocelyn Laporte

    Cell Calcium ; Volume: 76 ; Page: 1-9

    HAL DOI

  • Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice

    • Hichem Tasfaout
    • Valentina Lionello
    • Christine Kretz
    • Pascale Koebel
    • Nadia Messaddeq
    • Déborah Bitz
    • Jocelyn Laporte
    • Belinda Cowling

    Molecular Therary ; Volume: 26 ; Page: 1082-1092

    HAL DOI

  • Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

    • Ivana Dabaj
    • Robert Carlier
    • David Gomez-Andres
    • Osório Neto
    • Enrico Bertini
    • Adele d'Amico
    • Fabiana Fattori
    • Yann Pereon
    • Claudia Castiglioni
    • Elliena Rodillo
    • Michela Catteruccia
    • Julio Guimaraes
    • Acary Oliveira
    • Umbertina Reed
    • Lilia Mesrob
    • Doris Lechner
    • Anne Boland
    • Jean-François Deleuze
    • Edoardo Malfatti
    • Carsten Bonnemann
    • ...

    Muscle & Nerve ; Volume: 58 ; Page: 224-234

    HAL DOI

  • A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

    • Macarena Cabrera-Serrano
    • Fabiola Mavillard
    • Valerie Biancalana
    • Eloy Rivas
    • Bharti Morar
    • Aurelio Hernandez-Lain
    • Montse Olive
    • Nuria Muelas
    • Eduardo Khan
    • Alejandra Carvajal
    • Pablo Quiroga
    • Jordi Diaz-Manera
    • Mark Davis
    • Rainiero Avila
    • Cristina Dominguez
    • Norma Romero
    • Juan Vilchez
    • David Comas
    • Nigel Laing
    • Jocelyn Laporte
    • ...

    Neurology ; Volume: 91 ; Page: 339-348

    HAL DOI

  • Centronuclear myopathies under attack: A plethora of therapeutic targets

    • Hichem Tasfaout
    • Belinda S. Cowling
    • Jocelyn Laporte

    Journal of Neuromuscular Diseases ; Volume: 5 ; Page: 387 - 406

    HAL DOI

  • Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy

    • Delphine Trochet
    • Bernard Prudhon
    • Maud Beuvin
    • Cécile Peccate
    • Stéphanie Lorain
    • Laura Julien
    • Sofia Benkhelifa‐ziyyat
    • Aymen Rabai
    • Kamel Mamchaoui
    • Arnaud Ferry
    • Jocelyn Laporte
    • Pascale Guicheney
    • Stéphane Vassilopoulos
    • Marc Bitoun

    EMBO Molecular Medicine ; Volume: 10 ; Page: 239-253

    HAL DOI