Jocelyn LAPORTE

Publications

• 2017

  • Article in a journal

    ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy

    • Johann Bohm
    • Monica Bulla
    • Jill Urquhart
    • Edoardo Malfatti
    • Simon Williams
    • James O'Sullivan
    • Anastazja Szlauer
    • Catherine Koch
    • Giovanni Baranello
    • Martin Mora
    • Michela Ripolone
    • Raffaella Violano
    • Maurizio Moggio
    • Helen Kingston
    • Timothy Dawson
    • Christian Degoede
    • John Nixon
    • Anne Boland
    • Jean-François Deleuze
    • Norma Romero
    • ...

    Human Mutation ; Volume: 38 ; Page: 426-438

    HAL DOI

  • Article in a journal

    Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

    • Carlyn Kouwenberg
    • Johann Bohm
    • Corrie Erasmus
    • Irene van Balken
    • Sandra Vos
    • Benno Kusters
    • Erik Kamsteeg
    • Valerie Biancalana
    • Catherine Koch
    • Nicolas Dondaine
    • Jocelyn Laporte
    • Nicol Voermans

    Journal of Neuromuscular Diseases ; Volume: 4 ; Page: 349-355

    HAL DOI

  • Article in a journal

    Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

    • Vanessa Schartner
    • Norma Romero
    • Sandra Donkervoort
    • Susan Treves
    • Pinki Munot
    • Tyler Pierson
    • Ivana Dabaj
    • Edoardo Malfatti
    • Irina Zaharieva
    • Francesco Zorzato
    • Osario Abath Neto
    • Guy Brochier
    • Xavière Lornage
    • Bruno Eymard
    • Ana Taratuto
    • Johann Böhm
    • Hernan Gonorazky
    • Leigh Ramos-Platt
    • Lucy Feng
    • Rahul Phadke
    • ...

    Acta Neuropathologica ; Volume: 133 ; Page: 517-533

    HAL DOI

• 2016

  • Article in a journal

    Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

    • Nasim Vasli
    • Elizabeth Harris
    • Jason Karamchandani
    • Eric Bareke
    • Jacek Majewski
    • Norma B. Romero
    • Tanya Stojkovic
    • Rita Barresi
    • Hichem Tasfaout
    • Richard Charlton
    • Edoardo Malfatti
    • Johann Böhm
    • Chiara Marini-Bettolo
    • Karine Choquet
    • Marie-Josée Dicaire
    • Yi-Hong Shao
    • Ana Topf
    • Erin O’ferrall
    • Bruno Eymard
    • Volker Straub
    • ...

    Brain - A Journal of Neurology ; Volume: 140 ; Page: 37-48

    HAL DOI

  • Article in a journal

    Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

    • Gina L. O’grady
    • Heather A. Best
    • Tamar E. Sztal
    • Vanessa Schartner
    • Myriam Sanjuan-Vazquez
    • Sandra Donkervoort
    • Osorio Abath Neto
    • Roger Bryan Sutton
    • Biljana Ilkovski
    • Norma Beatriz Romero
    • Tanya Stojkovic
    • Jahannaz Dastgir
    • Leigh B. Waddell
    • Anne Boland
    • Ying Hu
    • Caitlin Williams
    • Avnika A. Ruparelia
    • Thierry Maisonobe
    • Anthony J. Peduto
    • Stephen W. Reddel
    • ...

    American Journal of Human Genetics ; Volume: 99 ; Page: 1086-1105

    HAL DOI

  • Article in a journal

    Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

    • Stéphanie Bauché
    • Seana O’regan
    • Yoshiteru Azuma
    • Fanny Laffargue
    • Grace Mcmacken
    • Damien Sternberg
    • Guy Brochier
    • Céline Buon
    • Nassima Bouzidi
    • Ana Topf
    • Emmanuelle Lacène
    • Ganaelle Remerand
    • Anne Beaufrere
    • Céline Pebrel-Richard
    • Julien Thévenon
    • Salima El chehadeh-Djebbar
    • Laure Faivre
    • Yannis Duffourd
    • Federica Ricci
    • Tiziana Mongini
    • ...

    American Journal of Human Genetics ; Volume: 99 ; Page: 753 - 761

    HAL DOI

  • Article in a journal

    Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy

    • Rana Mansour
    • Sonia Severin
    • Jean-Marie Xuereb
    • Marie-Pierre Gratacap
    • Jocelyn Laporte
    • Ana Buj-Bello
    • Hélène Tronchère
    • Bernard Payrastre

    Biochemical and Biophysical Research Communications ; Volume: 476 ; Page: 167-173

    HAL DOI

  • Article in a journal

    Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation

    • M. Garibaldi
    • Johann Bohm
    • F. Fattori
    • Catherine Koch
    • C. Surace
    • P. Ottaviani
    • F. Laschena
    • Jocelyn Laporte
    • E. Bertini
    • G. Antonini
    • N. B. Romero

    Journal of Neuromuscular Diseases ; Volume: 3 ; Page: 111-114

    HAL DOI

  • Article in a journal

    A phosphoinositide conversion mechanism for exit from endosomes

    • K. Ketel
    • M. Krauss
    • Anne-Sophie Nicot
    • D. Puchkov
    • M. Wieffer
    • R. Muller
    • D. Subramanian
    • C. Schultz
    • Jocelyn Laporte
    • V. Haucke

    Nature ; Volume: 529 ; Page: 408-12

    HAL DOI

  • Article in a journal

    In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy

    • Luc Mercier
    • Johann Böhm
    • Nina Fekonja
    • Guillaume Allio
    • Yves Lutz
    • Marc Koch
    • Jacky Goetz
    • Jocelyn Laporte

    IntraVital ; Volume: 5

    HAL DOI