Jocelyn LAPORTE

Publications

• 2021

  • A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

    • Valérie Biancalana
    • John Rendu
    • Annabelle Chaussenot
    • Helen Mecili
    • Eric Bieth
    • Mélanie Fradin
    • Sandra Mercier
    • Maud Michaud
    • Marie-Christine Nougues
    • Laurent Pasquier
    • Sabrina Sacconi
    • Norma Romero
    • Pascale Marcorelles
    • François Jérôme Authier
    • Antoinette Gelot Bernabe
    • Emmanuelle Uro-Coste
    • Claude Cances
    • Bertrand Isidor
    • Armelle Magot
    • Marie-Christine Minot-Myhie
    • ...

    Acta Neuropathologica Communications ; Volume: 9 ; Page: 155

    HAL DOI

  • Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances

    • Raquel Gómez-Oca
    • Belinda Cowling
    • Jocelyn Laporte

    International Journal of Molecular Sciences ; Volume: 22 ; Page: 11377

    HAL DOI

  • Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes

    • Roberto Silva-Rojas
    • Vasugi Nattarayan
    • Francisco Jaque-Fernandez
    • Raquel Gomez-Oca
    • Alexia Menuet
    • David Reiss
    • Marie Goret
    • Nadia Messaddeq
    • Valentina M Lionello
    • Christine Kretz
    • Belinda S Cowling
    • Vincent Jacquemond
    • Jocelyn Laporte

    Molecular Therapy

    HAL DOI

  • Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure

    • Roberto Silva-Rojas
    • Anne-Laure Charles
    • Sarah Djeddi
    • Bernard Geny
    • Jocelyn Laporte
    • Johann Böhm

    Cells ; Volume: 10 ; Page: 1730

    HAL DOI

  • Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy

    • Xavière Lornage
    • Martial Mallaret
    • Roberto Silva-Rojas
    • Valérie Biancalana
    • Diane Giovannini
    • Klaus Dieterich
    • Safaa Saker
    • Jean-François Deleuze
    • Bernard Wuyam
    • Jocelyn Laporte
    • Johann Böhm

    neurogenetics ; Volume: 22 ; Page: 33-41

    HAL DOI

  • Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

    • Daniel Klionsky
    • Amal Kamal Abdel-Aziz
    • Sara Abdelfatah
    • Mahmoud Abdellatif
    • Asghar Abdoli
    • Steffen Abel
    • Hagai Abeliovich
    • Marie Abildgaard
    • Yakubu Princely Abudu
    • Abraham Acevedo-Arozena
    • Iannis Adamopoulos
    • Khosrow Adeli
    • Timon Adolph
    • Annagrazia Adornetto
    • Elma Aflaki
    • Galila Agam
    • Anupam Agarwal
    • Bharat Aggarwal
    • Maria Agnello
    • Patrizia Agostinis
    • ...

    Autophagy ; Volume: 17 ; Page: 1-382

    HAL DOI

  • Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies

    • Sarah Djeddi
    • David Reiss
    • Alexia Menuet
    • Sébastien Freismuth
    • Juliana de Carvalho Neves
    • Sarah Djerroud
    • Xènia Massana Munoz
    • Anne-Sophie Sosson
    • Christine Kretz
    • Wolfgang Raffelsberger
    • Céline Keime
    • Olivier M. Dorchies
    • Julie Thompson
    • Jocelyn Laporte

    Molecular Therapy

    HAL DOI

• 2020

  • Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

    • Sandra Donkervoort
    • Carl Kutzner
    • Ying Hu
    • Xavière Lornage
    • John Rendu
    • Tanya Stojkovic
    • Jonathan Baets
    • Sarah Neuhaus
    • Jantima Tanboon
    • Reza Maroofian
    • Véronique Bolduc
    • Magdalena Mroczek
    • Stefan Conijn
    • Nancy Kuntz
    • Ana Töpf
    • Soledad Monges
    • Fabiana Lubieniecki
    • Riley Mccarty
    • Katherine Chao
    • Serena Governali
    • ...

    American Journal of Human Genetics ; Volume: 107 ; Page: 1078-1095

    HAL DOI

  • STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases

    • Roberto Silva Rojas
    • Jocelyn Laporte
    • Johann Böhm

    Frontiers in Physiology ; Volume: 11

    HAL DOI

  • Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin Graphical abstract

    • Xènia Massana Muñoz
    • Christine Kretz
    • Roberto Silva-Rojas
    • Julien Ochala
    • Alexia Menuet
    • Norma Romero
    • Xènia Massana Muñoz
    • Belinda S Cowling
    • Jocelyn Laporte

    JCI Insight ; Volume: 5

    HAL DOI