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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2022
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Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model
- Qifei Li
- Jasmine Lin
- Jeffrey J. Widrick
- Shiyu Luo
- Gu Li
- Yuanfan Zhang
- Jocelyn Laporte
- Mark A. Perrella
- Xiaoli Liu
- Pankaj B. Agrawal
JCI Insight ; Volume: 7
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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 R Hammans
- A. Reghan Foley
- Charlotte M Fare
- Alice F Ford
- Masashi Ogasawara
- Aki Sato
- Aritoshi Iida
- Pinki Munot
- Gautam Ambegaonkar
- Rahul Phadke
- Dominic G O’donovan
- Rebecca Buchert
- ...
Nature Communications ; Volume: 13 ; Page: 2306
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BIN1 modulation in vivo rescues dynamin-related myopathy
- Valentina Maria Lionello
- Christine Kretz
- Evelina Edelweiss
- Corinne Crucifix
- Raquel Gómez-Oca
- Nadia Messaddeq
- Suzie Buono
- Pascale Koebel
- Xènia Massana Muñoz
- Nadège Diedhiou
- Belinda Cowling
- Marc Bitoun
- Jocelyn Laporte
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 119
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Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice
- Roberto Silva-Rojas
- Laura Pérez-Guàrdia
- Emma Lafabrie
- David Moulaert
- Jocelyn Laporte
- Johann Böhm
International Journal of Molecular Sciences ; Volume: 23 ; Page: 6968
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FP.05 From the Muscle Atlas to an AI-based diagnostic tool
- Corentin Meyer
- Emmanuelle Lacene
- Maud Beuvin
- Evangelista Teresinha
- Jocelyn Laporte
- Anne Jeannin-Girardon
- Pierre Collet
- Olivier Poch
- Norma B. Romero
- Kirsley Chennen
- Bruno Cadot
Neuromuscular Disorders ; Volume: 32 ; Page: S55
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Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy
- Suzie Buono
- Arnaud Monseur
- Alexia Menuet
- Anne Robé
- Catherine Koch
- Jocelyn Laporte
- Leen Thielemans
- Marion Depla
- Belinda S. Cowling
Disease Models & Mechanisms ; Volume: 15 ; Page: dmm049284
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A dog model for centronuclear myopathy (CNM) carrying the most common DNM2 mutation
- Johann Böhm
- Inès Barthélémy
- Charlène Landwerlin
- Nicolas Blanchard-Gutton
- Frédéric Relaix
- Stéphane Blot
- Jocelyn Laporte
- Laurent Tiret
Disease Models & Mechanisms ; Volume: 15 ; Page: dmm049219
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2021
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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
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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
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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
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