Jocelyn LAPORTE

Publications

• 2015

  • DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

    • Osorio Abath Neto
    • Cristiane de Araújo Martins
    • Mary Carvalho
    • Gerson Chadi
    • Katia Werneck Seitz
    • Acary Souza Bulle Oliveira
    • Umbertina Conti Reed
    • Jocelyn Laporte
    • Edmar Zanoteli

    Genetics and Molecular Biology ; Volume: 38 ; Page: 147 - 151

    HAL DOI

  • VaRank: a simple and powerful tool for ranking genetic variants

    • Véronique Geoffroy
    • Cécile Pizot
    • Claire Redin
    • Amélie Piton
    • Nasim Vasli
    • Corinne Stoetzel
    • André Blavier
    • Jocelyn Laporte
    • Jean Muller

    PeerJ ; Volume: 3 ; Page: e796

    HAL DOI

  • The caveolin–cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle

    • Harriet P. Lo
    • Susan J. Nixon
    • Thomas E. Hall
    • Belinda S Cowling
    • Charles Ferguson
    • Garry P. Morgan
    • Nicole L. Schieber
    • Manuel A. Fernandez-Rojo
    • Michele Bastiani
    • Matthias Floetenmeyer
    • Nick Martel
    • Jocelyn Laporte
    • Paul F. Pilch
    • Robert G. Parton

    Journal of Cell Biology ; Volume: 210 ; Page: 833--849

    HAL DOI

  • Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis

    • Valérie Biancalana
    • Jocelyn Laporte

    Journal of Neuromuscular Diseases ; Volume: 2 ; Page: 193-203

    HAL DOI

• 2014

  • Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

    • Johann Böhm
    • Valerie Biancalana
    • Edoardo Malfatti
    • Nicolas Dondaine
    • Catherine Koch
    • Nasim Vasli
    • Wolfram Kress
    • Matthias Strittmatter
    • Ana Lía Taratuto
    • Hernan Gonorazky
    • Pascal Laforet
    • Thierry Maisonobe
    • Montse Olivé
    • Laura González-Mera
    • Michel Fardeau
    • Nathalie Carrière
    • Pierre Clavelou
    • Bruno Eymard
    • Marc Bitoun
    • John Rendu
    • ...

    Brain - A Journal of Neurology ; Volume: 137 ; Page: 3160-3170

    HAL DOI

  • BIN1/M-Amphiphysin2 induces clustering of phosphoinositides to recruit its downstream partner dynamin

    • Laura Picas
    • Julien Viaud
    • Kristine Schauer
    • Stefano Vanni
    • Karim Hnia
    • Vincent Fraisier
    • Aurelien Roux
    • Patricia Bassereau
    • Frédérique Gaits-Iacovoni
    • Bernard Payrastre
    • Jocelyn Laporte
    • Jean-Baptiste Manneville
    • Bruno Goud

    Nature Communications ; Volume: 5 ; Page: 5647

    HAL DOI

  • Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

    • Johann Böhm
    • Frédéric Chevessier
    • Catherine Koch
    • G Arielle Peche
    • Marina Mora
    • Lucia Morandi
    • Barbara Pasanisi
    • Isabella Moroni
    • Giorgio Tasca
    • Fabiana Fattori
    • Enzo Ricci
    • Isabelle Pénisson-Besnier
    • Aleksandra Nadaj-Pakleza
    • Michel Fardeau
    • Pushpa Raj Joshi
    • Marcus Deschauer
    • Norma Beatriz Romero
    • Bruno Eymard
    • Jocelyn Laporte

    Journal of Medical Genetics ; Volume: 51 ; Page: 824-833

    HAL DOI

  • N‐ WASP is required for Amphiphysin‐2/ BIN 1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

    • Sestina Falcone
    • William Roman
    • Karim Hnia
    • Vincent Gache
    • Nathalie Didier
    • Jeanne Lainé
    • Frederic Auradé
    • Isabelle Marty
    • Ichizo Nishino
    • Nicolas Charlet‐berguerand
    • Norma Beatriz Romero
    • Giovanna Marazzi
    • David Sassoon
    • Jocelyn Laporte
    • Edgar Gomes

    EMBO Molecular Medicine ; Volume: 6 ; Page: 1455-1475

    HAL DOI

  • Desmin in muscle and associated diseases: beyond the structural function

    • Karim Hnia
    • Caroline Ramspacher
    • Julien Vermot
    • Jocelyn Laporte

    Cell and Tissue Research ; Volume: 360 ; Page: 591-608

    HAL DOI

  • Autosomal dominant eccentric core disease caused by a heterozygous mutation in the $MYH7$ gene

    • Norma Beatriz Romero
    • Ting Xie
    • Edoardo Malfatti
    • Ursula Schaeffer
    • Johann Böhm
    • Fengping Xu
    • Bin Wu
    • Samy Boucebci
    • Stéphane Mathis
    • Jean-Philippe Neau
    • Nicole Monnier
    • Michel Fardeau
    • Jocelyn Laporte

    Journal of Neurology, Neurosurgery and Psychiatry ; Volume: 85 ; Page: 1149-1152

    HAL DOI