Jocelyn LAPORTE

Publications

• 2013

  • Article in a journal

    Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.

    • Leonela Amoasii
    • Karim Hnia
    • Gaëtan Chicanne
    • Andreas Brech
    • Belinda S Cowling
    • Martin Michael Müller
    • Yannick Schwab
    • Pascale Koebel
    • Arnaud Ferry
    • Bernard Payrastre
    • Jocelyn Laporte

    Journal of Cell Science ; Volume: 126 ; Page: 1806-19

    HAL DOI

  • Article in a journal

    An integrated diagnosis strategy for congenital myopathies.

    • Johann Böhm
    • Nasim Vasli
    • Edoardo Malfatti
    • Stéphanie Le Gras
    • Claire Feger
    • Bernard Jost
    • Nicole Monnier
    • Julie Brocard
    • Hatice Karasoy
    • Marion Gérard
    • Maggie C. Walter
    • Peter Reilich
    • Valérie Biancalana
    • Christine Kretz
    • Nadia Messaddeq
    • Isabelle Marty
    • Joël Lunardi
    • Norma B. Romero
    • Jocelyn Laporte

    PLoS ONE ; Volume: 8 ; Page: e67527

    HAL DOI

  • Chapter of the book

    Centronuclear Myopathies

    • Norma Beatriz Romero
    • Jocelyn Laporte

    Muscle Disease: Pathology and Genetics, Second edition ; Page: 134-144

    HAL DOI

  • Article in a journal

    Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

    • Johann Böhm
    • Frédéric Chevessier
    • André Maues de Paula
    • Catherine Koch
    • Shahram Attarian
    • Claire Feger
    • Daniel Hantaï
    • Pascal Laforêt
    • Karima Ghorab
    • Jean-Michel Vallat
    • Michel Fardeau
    • Dominique Figarella-Branger
    • Jean Pouget
    • Norma B. Romero
    • Marc Koch
    • Claudine Ebel
    • Nicolas Lévy
    • Martin Krahn
    • Bruno Eymard
    • Marc Bartoli
    • ...

    American Journal of Human Genetics ; Volume: 92 ; Page: 271-278

    HAL DOI

  • Article in a journal

    Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish

    • Vandana A. Gupta
    • Karim Hnia
    • Laura L. Smith
    • Stacey R. Gundry
    • Jessica E. Mcintire
    • Junko Shimazu
    • Jessica R. Bass
    • Ethan A. Talbot
    • Leonela Amoasii
    • Nathaniel E. Goldman
    • Jocelyn Laporte
    • Alan H. Beggs

    PLoS Genetics ; Volume: 9 ; Page: e1003583

    HAL DOI

  • Article in a journal

    Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

    • Nasim Vasli
    • Jocelyn Laporte

    Acta Neuropathologica ; Volume: 125 ; Page: 173--185

    HAL DOI

  • Article in a journal

    Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

    • Olga Koutsopoulos
    • Christine Kretz
    • Claudia Weller
    • Aurélien Roux
    • Halina Mojzisova
    • Johann Böhm
    • Catherine Koch
    • Anne Toussaint
    • Emilie Heckel
    • Daphne Stemkens
    • Simone ter Horst
    • Christelle Thibault
    • Muriel Koch
    • Syed Mehdi
    • Emilia Bijlsma
    • Jean-Louis Mandel
    • Julien Vermot
    • Jocelyn Laporte

    European Journal of Human Genetics ; Volume: 21 ; Page: 637-342

    HAL DOI

  • Article in a journal

    Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

    • Johann Böhm
    • Nasim Vasli
    • Marie Maurer
    • Belinda Cowling
    • G. Diane Shelton
    • Wolfram Kress
    • Anne Toussaint
    • Ivana Prokic
    • Ulrike Schara
    • Thomas James Anderson
    • Joachim Weis
    • Laurent Tiret
    • Jocelyn Laporte

    PLoS Genetics ; Volume: 9, online ; Page: Non paginé

    HAL DOI

• 2012

  • Chapter of the book

    Myotubularin Phosphoinositide Phosphatases in Human Diseases

    • Leonela Amoasii
    • Karim Hnia
    • Jocelyn Laporte

    Phosphoinositides and Disease ; Volume: 362 ; Page: 209-233

    HAL DOI

  • Article in a journal

    Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

    • Johann Böhm
    • Esther Leshinsky-Silver
    • Stéphane Vassilopoulos
    • Stéphanie Le Gras
    • Tally Lerman-Sagie
    • Mira Ginzberg
    • Bernard Jost
    • Dorit Lev
    • Jocelyn Laporte

    Acta Neuropathologica ; Volume: 124 ; Page: 575-581

    HAL DOI