Jocelyn LAPORTE

Publications

• 2016

  • 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

  • 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

  • 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

  • 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

  • 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

  • A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels

    • O. Abath Neto
    • M. R. Silva
    • A. Martins Cde
    • S. Oliveira Ade
    • U. C. Reed
    • Valérie Biancalana
    • J. B. Pesquero
    • Jocelyn Laporte
    • E. Zanoteli

    Pediatric neurology ; Volume: 58 ; Page: 107-12

    HAL DOI

  • 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

• 2015

  • Tau phosphorylation regulates the interaction between BIN1’s SH3 domain and Tau’s proline-rich domain

    • Yoann Sottejeau
    • Alexis Bretteville
    • François-Xavier Cantrelle
    • Nicolas Malmanche
    • Florie Demiaute
    • Tiago Mendes
    • Charlotte Delay
    • Harmony Alves dos Alves
    • Amandine Flaig
    • Peter Davies
    • Pierre Dourlen
    • Bart Dermaut
    • Jocelyn Laporte
    • Philippe Amouyel
    • Guy Lippens
    • Julien Chapuis
    • Isabelle Landrieu
    • Jean-Charles Lambert

    Acta Neuropathologica Communications ; Volume: 3

    HAL DOI

  • Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton

    • Manuela d'Alessandro
    • Karim Hnia
    • Vincent Gache
    • Catherine Koch
    • Christos Gavriilidis
    • David Rodriguez
    • Anne-Sophie Nicot
    • Norma B. Romero
    • Yannick Schwab
    • Edgar Gomes
    • Michel Labouesse
    • Jocelyn Laporte

    Developmental Cell ; Volume: 35 ; Page: 186-198

    HAL DOI

  • Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy

    • Edoardo Malfatti
    • Soledad Monges
    • Vilma-Lotta Lehtokari
    • Ursula Schaeffer
    • Osorio Abath Neto
    • Kirsi Kiiski
    • Fabiana Lubieniecki
    • Ana Lía Taratuto
    • Carina Wallgren-Pettersson
    • Jocelyn Laporte
    • Norma Beatriz Romero

    European Journal of Medical Genetics ; Volume: 58 ; Page: 556-561

    HAL DOI