Pathophysiology of neuromuscular diseases
Team Leader : Jocelyn LAPORTE
Department : Translational medecine and neurogenetics
Jocelyn LAPORTE
Researcher
Inserm research director
jocelyn@igbmc.fr
Research team(s)
Research subgroup(s)
Publications
2025
Article in a journal
Transcriptomic characterization of postnatal muscle maturation in mice, with a focus on myopathy-associated genes
- Alix Simon
- Sarah Djeddi
- Pauline Bournon
- David Reiss
- Julie Thompson
- Jocelyn Laporte
Disease Models & Mechanisms ; Volume: 18 ; Page: DMM052098
2024
Article in a journal
Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era
- Mai Thao Bui
- Gorka Fernández-Eulate
- Teresinha Evangelista
- Emmanuelle Lacène
- Guy Brochier
- Clémence Labasse
- Angéline Madelaine
- Anaïs Chanut
- Maud Beuvin
- Favienne Borsato-Levy
- Valerie Biancalana
- Giulia Barcia
- Pascale de Lonlay
- Jocelyn Laporte
- Johann Böhm
- Norma Beatriz Romero
Acta Neuropathologica Communications ; Volume: 12 ; Page: 191
Article in a journal
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons
- Aurélien Perrin
- Rocio Garcia-Uzquiano
- Tanya Stojkovic
- Céline Tard
- Corinne Metay
- Anne Bergougnoux
- Charles van Goethem
- Corinne Thèze
- Marion Larrieux
- Héloise Faure-Gautron
- Jocelyn Laporte
- Guillaume Lefebvre
- Martin Krahn
- Raul Juntas-Morales
- Michel Koenig
- Susana Quijano-Roy
- Robert-Yves Carlier
- Mireille Cossée
International Journal of Molecular Sciences ; Volume: 25 ; Page: 12994
Article in a journal
Potential compensatory mechanisms preserving cardiac function in myotubular myopathy
- Alix Simon
- Nadege Diedhiou
- David Reiss
- Marie Goret
- Erwan Grandgirard
- Jocelyn Laporte
Cellular and Molecular Life Sciences ; Volume: 81 ; Page: 476
Article in a journal
Le tamoxifène, une molécule à fort potentiel thérapeutique pour toutes les myopathies centronucléaires, Tamoxifen, a high-potential molecule to treat all centronuclear myopathies
- Charlotte Gineste
- Jocelyn Laporte
Médecine/Sciences ; Volume: 40 ; Page: 34-39
Article in a journal
A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice
- Laura Pérez-Guàrdia
- Emma Lafabrie
- Nadège Diedhiou
- Coralie Spiegelhalter
- Jocelyn Laporte
- Johann Böhm
Cells ; Volume: 13 ; Page: 1829
Article in a journal
Dietary pro-oxidant therapy by a vitamin K precursor targets PI 3-kinase VPS34 function
- Manojit Swamynathan
- Shan Kuang
- Kaitlin Watrud
- Mary Doherty
- Charlotte Gineste
- Grinu Mathew
- Grace Gong
- Hilary Cox
- Eileen Cheng
- David Reiss
- Jude Kendall
- Diya Ghosh
- Colleen Reczek
- Xiang Zhao
- Tali Herzka
- Saulė Špokaitė
- Antoine Dessus
- Seung Tea Kim
- Olaf Klingbeil
- Juan Liu
- ...
Science ; Volume: 386
Article in a journal
Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy
- Boglarka Zambo
- Evelina Edelweiss
- Bastien Morlet
- Luc Negroni
- Matyas Pajkos
- Zsuzsanna Dosztányi
- Søren Østergaard
- Gilles Travé
- Jocelyn Laporte
- Gergő Gógl
eLife ; Volume: 13 ; Page: RP95397
Article in a journal
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
- Yvan de Feraudy
- Marie Vandroux
- Norma Beatriz Romero
- Raphaël Schneider
- Safaa Saker
- Anne Boland
- Jean-François Deleuze
- Jean‐françois Deleuze
- Valérie Biancalana
- Johann Böhm
- Jocelyn Laporte
Genome Medicine ; Volume: 16 ; Page: 87
Article in a journal
Amphiphysin-2 (BIN1) functions and defects in cardiac and skeletal muscle
- Quentin Giraud
- Jocelyn Laporte
Trends in Molecular Medicine ; Volume: 30 ; Page: 579-591