Jocelyn LAPORTE

Publications

• 2013

  • 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

  • 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

  • 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

  • Centronuclear Myopathies

    • Norma Beatriz Romero
    • Jocelyn Laporte

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

    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

  • 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

  • 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

  • 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