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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2023
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DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy
- Juliana de Carvalho Neves
- Foteini Moschovaki-Filippidou
- Johann Böhm
- Jocelyn Laporte
Molecular Therapy - Nucleic Acids ; Volume: 33 ; Page: 321-334
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BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes
- Harmonie Perdreau-Dahl
- David Lipsett
- Michael Frisk
- Fatemeh Kermani
- Cathrine Carlson
- Andreas Brech
- Xin Shen
- Anna Bergan-Dahl
- Yufeng Hou
- Tomi Tuomainen
- Pasi Tavi
- Peter Jones
- Marianne Lunde
- J Andrew Wasserstrom
- Jocelyn Laporte
- Nina Ullrich
- Geir Christensen
- J Preben Morth
- William Louch
- J. Andrew Wasserstrom
- ...
Circulation Research ; Volume: 132 ; Page: e188-e205
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Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice
- Xènia Massana-Muñoz
- Marie Goret
- Vasugi Nattarayan
- David Reiss
- Christine Kretz
- Gaëtan Chicanne
- Bernard Payrastre
- Bart Vanhaesebroeck
- Jocelyn Laporte
JCI Insight ; Volume: 8 ; Page: e151933
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Therapeutic approaches in different congenital myopathies
- Charlotte Gineste
- Jocelyn Laporte
Current Opinion in Pharmacology ; Volume: 68 ; Page: 102328
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2022
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Tamoxifen improves muscle structure and function of <i>Bin1</i> - and <i>Dnm2</i> -related centronuclear myopathies
- Charlotte Gineste
- Alix Simon
- Marie Braun
- David Reiss
- Jocelyn Laporte
Brain - A Journal of Neurology
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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
- Hong Joo Kim
- Payam Mohassel
- Sandra Donkervoort
- Lin Guo
- Kevin O’donovan
- Maura Coughlin
- Xaviere Lornage
- Nicola Foulds
- Simon Hammans
- A. Reghan Foley
- Charlotte Fare
- Alice Ford
- Masashi Ogasawara
- Aki Sato
- Aritoshi Iida
- Pinki Munot
- Gautam Ambegaonkar
- Rahul Phadke
- Dominic O’donovan
- Rebecca Buchert
- ...
Nature Communications ; Volume: 13 ; Page: 2306
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Mutation update for the ACTN2 gene
- Johanna Ranta-Aho
- Montse Olive
- Marie Vandroux
- Giorgia Roticiani
- Cristina Dominguez
- Mridul Johari
- Annalaura Torella
- Johann Böhm
- Janina Turon
- Vincenzo Nigro
- Peter Hackman
- Jocelyn Laporte
- Bjarne Udd
- Marco Savarese
Human Mutation ; Volume: 43 ; Page: 1745-1756
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
- Clémence Labasse
- Guy Brochier
- Ana-Lia Taratuto
- Bruno Cadot
- John Rendu
- Soledad Monges
- Valérie Biancalana
- Susana Quijano-Roy
- Mai Thao Bui
- Anaïs Chanut
- Angéline Madelaine
- Emmanuelle Lacène
- Maud Beuvin
- Helge Amthor
- Laurent Servais
- Yvan de Feraudy
- Marcela Erro
- Maria Saccoliti
- Osorio Abath Neto
- Julien Fauré
- ...
Acta Neuropathologica Communications ; Volume: 10 ; Page: 101
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BIN1/Amphiphysin 2 and ezrin drive filopodia-like structures in myoblasts
- Laura Picas
- Franck Comunale
- Charlotte André-Arpin
- Hugo Bousquet
- Feng-Ching Tsai
- Félix Rico
- Paolo Maiuri
- Julien Pernier
- Stéphane Bodin
- Anne-Sophie Nicot
- Jocelyn Laporte
- Patricia Bassereau
- Bruno Goud
- Cécile Gauthier-Rouvière
- Stéphanie Miserey-Lenkei
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Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy
- Raquel Gomez Oca
- Evelina Edelweiss
- Sarah Djeddi
- Mathias Gerbier
- Xènia Massana Munoz
- Mustapha Oulad-Abdelghani
- Corinne Crucifix
- Coralie Spiegelhalter
- Nadia Messaddeq
- Pierre Poussin-Courmontagne
- Pascale Koebel
- Belinda Cowling
- Jocelyn Laporte
Nature Communications ; Volume: 13
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