Jocelyn LAPORTE

Publications

• 2017

  • 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

    HALDOI

  • 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

    HALDOI

  • Article in a journal

    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

    HALDOI

  • 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

    HALDOI

  • Article in a journal

    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

    HALDOI

  • Article in a journal

    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

    HALDOI

  • Article in a journal

    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

    HALDOI

• 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

    HALDOI

  • 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

    HALDOI

  • Article in a journal

    Severe axial muscular involvement in Laing distal myopathy with a thumbprint finding on MRI

    • I. Dabaj
    • C. Araújo Martins Moreno
    • O. Abath Neto
    • E. Bertini
    • C. Castiglioni
    • J. Brandão Guimarães
    • U. Conti Reed
    • L. Mesrob
    • D. Lechner
    • C. Fiorillo
    • E. Malfati
    • A. Boland
    • J. Deleuze
    • C. Bonnemann
    • J. Laporte
    • N. Romero
    • D. Gomez
    • S. Quijano-Roy
    • R. Carlier
    • E. Zanoteli

    Neuromuscular Disorders ; Volume: 26 ; Page: S172-S173

    HALDOI