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
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2025
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Article in a journal
BIN1 gene replacement reverses BIN1-related centronuclear myopathy
- Jacqueline Ji
- Quentin Giraud
- Nadege Diedhiou
- Eva Lipkow
- Coralie Spiegelhalter
- Jocelyn Laporte
Molecular Therapy ; Volume: 33 ; Page: 3701-3717
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Article in a journal
Combining dynamin 2 myopathy and neuropathy mutations rescues both phenotypes
- Marie Goret
- Evelina Edelweiss
- Jérémy Jehl
- David Reiss
- Patricio Aguirre-Pineda
- Sylvie Friant
- Jocelyn Laporte
Nature Communications ; Volume: 16 ; Page: 4667
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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
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Article in a journal
BIN1 reduction ameliorates DNM2 -related Charcot–Marie–Tooth neuropathy
- Marie Goret
- Morgane Thomas
- Evelina Edelweiss
- Nadia Messaddeq
- Jocelyn Laporte
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 122
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2024
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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
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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
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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
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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
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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
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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
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