Jocelyn LAPORTE

Publications

• 2017

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

    HAL DOI

  • 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

• 2016

  • 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

  • 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