Jocelyn LAPORTE

Publications

• 2017

  • Article in a journal

    IFN-β-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis

    • Alain Meyer
    • Gilles Laverny
    • Yves Allenbach
    • Elise Grelet
    • Vanessa Ueberschlag
    • Andoni Echaniz-Laguna
    • Béatrice Lannes
    • Ghada Alsaleh
    • Anne Laure Charles
    • François Singh
    • Joffrey Zoll
    • Evelyne Lonsdorfer
    • François Maurier
    • Olivier Boyer
    • Jacques-Eric Gottenberg
    • Anne Sophie Nicot
    • Jocelyn Laporte
    • Olivier Benveniste
    • Daniel Metzger
    • Jean Sibilia
    • ...

    Acta Neuropathologica ; Volume: 134 ; Page: 655-666

    HAL DOI

  • Article in a journal

    Myotubularins and associated neuromuscular diseases

    • Helene Tronchere
    • Alessandra Bolino
    • Jocelyn Laporte
    • Bernard Payrastre

    Journal of clinical lipidology ; Volume: 7 ; Page: 151-162

    HAL DOI

  • Article in a journal

    WANTED – Dead or alive: Myotubularins, a large disease-associated protein family

    • Matthieu Raess
    • Sylvie Friant
    • Belinda S. Cowling
    • Jocelyn Laporte

    Advances in Biological Regulation ; Volume: 63 ; Page: 49-58

    HAL DOI

  • Article in a journal

    Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation

    • Osorio Abath Neto
    • Carlos Heise
    • Cristiane de Araújo Martins Moreno
    • Eduardo de Paula Estephan
    • Lilia Mesrob
    • Doris Lechner
    • Anne Boland
    • Jean-François Deleuze
    • Acary Souza Bulle Oliveira
    • Umbertina Reed
    • Valerie Biancalana
    • Jocelyn Laporte
    • Edmar Zanoteli

    Canadian Journal of Neurological Sciences ; Volume: 44 ; Page: 125-127

    HAL DOI

  • Article in a journal

    Recessive MYPN mutations cause cap myopathy with occasional nemaline rods

    • Xavière Lornage
    • Edoardo Malfatti
    • Raphael Schneider
    • Valerie Biancalana
    • Jean Cuisset
    • Matteo Garibaldi
    • Bruno Eymard
    • Michel Fardeau
    • Anne Boland
    • Jean Deleuze
    • Julie D. Thompson
    • Robert Carlier
    • Johann Bohm
    • Norma Romero
    • Jocelyn Laporte

    Ann Neurol ; Volume: 81 ; Page: 467-473

    HAL DOI

  • Article in a journal

    Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

    • Matthieu Raess
    • Belinda S Cowling
    • Dimitri L. Bertazzi
    • Christine Kretz
    • Bruno Rinaldi
    • Jean-Marie Xuereb
    • Pascal Kessler
    • Norma Beatriz Romero
    • Bernard Payrastre
    • Sylvie Friant
    • Jocelyn Laporte

    Human Molecular Genetics ; Volume: 26 ; Page: 3736-3748

    HAL DOI

  • Article in a journal

    Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

    • Hichem Tasfaout
    • Suzie Buono
    • Shuling Guo
    • Christine Kretz
    • Nadia Messaddeq
    • Sheri Booten
    • Sarah Greenlee
    • Brett Monia
    • Belinda Cowling
    • Jocelyn Laporte

    Nature Communications ; Volume: 8 ; Page: 15661

    HAL DOI

  • Article in a journal

    CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

    • Johann Bohm
    • Xavière Lornage
    • Frédéric Chevessier
    • Catherine Birck
    • Simona Zanotti
    • Paola Cudia
    • Monica Bulla
    • Florence Granger
    • Mai Thao Bui
    • Maxime Sartori
    • Christiane Schneider-Gold
    • Edoardo Malfatti
    • Norma Romero
    • Marina Mora
    • Jocelyn Laporte

    Acta Neuropathologica ; Volume: 135 ; Page: 149-151

    HAL DOI

  • Article in a journal

    Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems

    • Gemma Walmsley
    • Stéphane Blot
    • Kerrie Venner
    • Caroline Sewry
    • Jocelyn Laporte
    • Jordan Blondelle
    • Inès Barthélémy
    • Marie Maurer
    • Nicolas Blanchard-Gutton
    • Fanny Pilot-Storck
    • Laurent L. Tiret
    • Richard Piercy

    American Journal of Pathology ; Volume: 187 ; Page: 441-456

    HAL DOI

  • Article in a journal

    HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

    • Yon Andoni Echaniz-Laguna
    • Xavière Lornage
    • Beatrice Lannes
    • Raphael Schneider
    • Guillaume Bierry
    • Nicolas Dondaine
    • Anne Boland
    • J Deleuze
    • Johann Bohm
    • Julie D. Thompson
    • Jocelyn Laporte
    • Valerie Biancalana

    Acta Neuropathologica ; Volume: 134 ; Page: 163-165

    HAL DOI