Jocelyn LAPORTE

Publications

• 2013

  • 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

  • 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

• 2012

  • Myotubularin Phosphoinositide Phosphatases in Human Diseases

    • Leonela Amoasii
    • Karim Hnia
    • Jocelyn Laporte

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

    HAL DOI

  • 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

  • Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology

    • Karim Hnia
    • Ilaria Vaccari
    • Alessandra Bolino
    • Jocelyn Laporte

    Trends in Molecular Medicine ; Volume: 18 ; Page: 317-327

    HAL DOI

  • Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

    • Johann Böhm
    • Valérie Biancalana
    • Elizabeth T Dechene
    • Marc Bitoun
    • Christophe Pierson
    • Elise Schaefer
    • Hatice Karasoy
    • Melissa A Dempsey
    • Fabrice Klein
    • Nicolas Dondaine
    • Christine Kretz
    • Nicolas Haumesser
    • Claire Poirson
    • Anne Toussaint
    • Rebecca S Greenleaf
    • Melissa A Barger
    • Lane J Mahoney
    • Peter B Kang
    • Edmar Zanoteli
    • John Vissing
    • ...

    Human Mutation ; Volume: 33 ; Page: 949 - 959

    HAL DOI

  • Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models

    • Belinda S Cowling
    • Anne Toussaint
    • Jean Muller
    • Jocelyn Laporte

    PLoS Genetics ; Volume: 8 ; Page: e1002595

    HAL DOI

  • Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype

    • Nasim Vasli
    • Vincent Laugel
    • Johann Böhm
    • Béatrice Lannes
    • Valerie Biancalana
    • Jocelyn Laporte

    European Journal of Human Genetics ; Volume: 20 ; Page: 701-704

    HAL DOI

  • Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle

    • Karim Hnia
    • Christine Kretz
    • Leonela Amoasii
    • Johann Böhm
    • Xia Liu
    • Nadia Messaddeq
    • Cheng-Kui Qu
    • Jocelyn Laporte

    Advances in Biological Regulation ; Volume: 52 ; Page: 98-107

    HAL DOI

  • Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

    • Leonela Amoasii
    • Dimitri L. Bertazzi
    • Hélène Tronchère
    • Karim Hnia
    • Gaëtan Chicanne
    • Bruno Rinaldi
    • Belinda S. Cowling
    • Arnaud Ferry
    • Bruno Klaholz
    • Bernard Payrastre
    • Jocelyn Laporte
    • Sylvie Friant

    PLoS Genetics ; Volume: 8 ; Page: e1002965

    HAL DOI