Jocelyn LAPORTE

Publications

• 2014

  • Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

    • Edoardo Malfatti
    • Vilma-Lotta Lehtokari
    • Johann Böhm
    • Josine de Winter
    • Ursula Schäffer
    • Brigitte Estournet
    • Susana Quijano-Roy
    • Soledad Monges
    • Fabiana Lubieniecki
    • Remi Bellance
    • Mai Thao Viou
    • Angéline Madelaine
    • Bin Wu
    • Ana Lía Taratuto
    • Bruno Eymard
    • Katarina Pelin
    • Michel Fardeau
    • Coen Ottenheijm
    • Carina Wallgren-Pettersson
    • Jocelyn Laporte
    • ...

    Acta Neuropathologica Communications ; Volume: 2 ; Page: 44

    HAL DOI

  • Amphiphysin 2 (BIN1) in physiology and diseases

    • Ivana Prokic
    • Belinda S Cowling
    • Jocelyn Laporte

    Journal of Molecular Medicine ; Volume: 92 ; Page: 453-463

    HAL DOI

  • Decreasing dynamin 2 to rescue myotubular myopathy, Diminuer l’expression de la dynamine 2

    • Jocelyn Laporte
    • Belinda S Cowling

    Médecine/Sciences ; Volume: 30 ; Page: 621--624

    HAL DOI

  • Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

    • Belinda S Cowling
    • Thierry Chevremont
    • Ivana Prokic
    • Christine Kretz
    • Arnaud Ferry
    • Catherine Coirault
    • Olga Koutsopoulos
    • Vincent Laugel
    • Norma Beatriz Romero
    • Jocelyn Laporte

    Journal of Clinical Investigation ; Volume: 124 ; Page: 1350-1363

    HAL DOI

  • Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies

    • Osorio Abath Neto
    • Olivier Tassy
    • Valerie Biancalana
    • Edmar Zanoteli
    • Olivier Pourquié
    • Jocelyn Laporte

    PLoS ONE ; Volume: 9 ; Page: e110888

    HAL DOI

  • Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

    • Vilma-Lotta Lehtokari
    • Kirsi Kiiski
    • Sarah A. Sandaradura
    • Jocelyn Laporte
    • Pauliina Repo
    • Jennifer A. Frey
    • Kati Donner
    • Minttu Marttila
    • Carol Saunders
    • Peter G. Barth
    • Johan T. den Dunnen
    • Alan H. Beggs
    • Nigel F. Clarke
    • Kathryn N. North
    • Nigel G. Laing
    • Norma B. Romero
    • Thomas L. Winder
    • Katarina Pelin
    • Carina Wallgren-Pettersson

    Human Mutation ; Volume: 35 ; Page: 1418--1426

    HAL DOI

  • Hereditary myopathy with early respiratory failure: occurrence in various populations

    • Johanna Palmio
    • Anni Evilä
    • Françoise Chapon
    • Giorgio Tasca
    • Fengqing Xiang
    • Björn Brådvik
    • Bruno Eymard
    • Andoni Echaniz‐laguna
    • Jocelyn Laporte
    • Mikko Kärppä
    • Ibrahim Mahjneh
    • Rosaline Quinlivan
    • Pascal Laforet
    • Maxwell Damian
    • Andrés Berardo
    • Ana Lía Taratuto
    • José Antonio Bueri
    • Johanna Tommiska
    • Taneli Raivio
    • Matthias Tuerk
    • ...

    Journal of Neurology, Neurosurgery and Psychiatry ; Volume: 85 ; Page: 345--353

    HAL DOI

• 2013

  • Correlative light and electron microscopy: from live cell dynamic to 3D ultrastructure

    • Coralie Spiegelhalter
    • Jocelyn F. Laporte
    • Yannick Schwab

    Methods in Molecular Biology ; Volume: 1117 ; Page: 485-501

    HAL DOI

  • Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

    • Edoardo Malfatti
    • Ursula Schaeffer
    • Françoise Chapon
    • Yage Yang
    • Bruno Eymard
    • Ran Xu
    • Jocelyn Laporte
    • Norma Beatriz Romero

    Neuromuscular Disorders ; Volume: 23 ; Page: 992-997

    HAL DOI

  • Recessive truncating titin gene, TTN , mutations presenting as centronuclear myopathy

    • Ozge Ceyhan-Birsoy
    • Pankaj Agrawal
    • Carlos Hidalgo
    • Klaus Schmitz-Abe
    • Elizabeth Dechene
    • Lindsay Swanson
    • Rachel Soemedi
    • Nasim Vasli
    • Susan Iannaccone
    • Perry Shieh
    • Natasha Shur
    • Jane Dennison
    • Michael Lawlor
    • Jocelyn Laporte
    • Kyriacos Markianos
    • William Fairbrother
    • Henk Granzier
    • Alan Beggs

    Neurology ; Volume: 81 ; Page: 1205-1214

    HAL DOI