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
2017
Article in a journal
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy
- Delphine Trochet
- Bernard Prudhon
- Maud Beuvin
- Cécile Peccate
- Stéphanie Lorain
- Laura Julien
- Sofia Benkhelifa-Ziyyat
- Aymen Rabai
- Kamel Mamchaoui
- Arnaud Ferry
- Jocelyn Laporte
- Pascale Guicheney
- Stéphane Vassilopoulos
- Marc Bitoun
Circulation. Arrhythmia and electrophysiology ; Volume: 10 ; Page: 428-431
Article in a journal
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation
- Belinda Cowling
- Ivana Prokic
- Hichem Tasfaout
- Aymen Rabai
- Frédéric Humbert
- Bruno Rinaldi
- Anne‐sophie Nicot
- Christine Kretz
- Sylvie Friant
- Aurelien Roux
- Jocelyn Laporte
Journal of Clinical Investigation ; Volume: 127 ; Page: 4477-4487
Article in a journal
IFN-β-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis
- Alain Meyer
- Gilles Laverny
- Yves Allenbach
- Elise Grelet
- Vanessa Ueberschlag
- Andoni Echaniz-Laguna
- Béatrice Lannes
- Ghada Alsaleh
- Anne Laure Charles
- François Singh
- Joffrey Zoll
- Evelyne Lonsdorfer
- François Maurier
- Olivier Boyer
- Jacques-Eric Gottenberg
- Anne Sophie Nicot
- Jocelyn Laporte
- Olivier Benveniste
- Daniel Metzger
- Jean Sibilia
- ...
Acta Neuropathologica ; Volume: 134 ; Page: 655-666
Article in a journal
Recessive myopalladin mutations cause congenital cap myopathy with unusual rods
- E. Malfatti
- X. Lornage
- C. Chéraud
- R. Schneider
- V. Biancalana
- J. Cuisset
- M. Garibaldi
- B. Eymard
- M. Fardeau
- A. Boland
- J. Deleuze
- J. Thompson
- J. Böhm
- N. Romero
- J. Laporte
Neuromuscular Disorders ; Volume: 27 ; Page: S185
Article in a journal
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems
- Gemma Walmsley
- Stéphane Blot
- Kerrie Venner
- Caroline Sewry
- Jocelyn Laporte
- Jordan Blondelle
- Inès Barthélémy
- Marie Maurer
- Nicolas Blanchard-Gutton
- Fanny Pilot-Storck
- Laurent Tiret
- Richard Piercy
American Journal of Pathology ; Volume: 187 ; Page: 441-456
Article in a journal
Myotubularins and associated neuromuscular diseases
- Helene Tronchere
- Alessandra Bolino
- Jocelyn Laporte
- Bernard Payrastre
Journal of clinical lipidology ; Volume: 7 ; Page: 151-162
Article in a journal
WANTED – Dead or alive: Myotubularins, a large disease-associated protein family
- Matthieu Raess
- Sylvie Friant
- Belinda S. Cowling
- Jocelyn Laporte
Advances in Biological Regulation ; Volume: 63 ; Page: 49-58
Article in a journal
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy
- Matthieu Raess
- Belinda S Cowling
- Dimitri L. Bertazzi
- Christine Kretz
- Bruno Rinaldi
- Jean-Marie Xuereb
- Pascal Kessler
- Norma Beatriz Romero
- Bernard Payrastre
- Sylvie Friant
- Jocelyn Laporte
Human Molecular Genetics ; Volume: 26 ; Page: 3736-3748
Article in a journal
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy
- Johann Bohm
- Xavière Lornage
- Frédéric Chevessier
- Catherine Birck
- Simona Zanotti
- Paola Cudia
- Monica Bulla
- Florence Granger
- Mai Thao Bui
- Maxime Sartori
- Christiane Schneider-Gold
- Edoardo Malfatti
- Norma Romero
- Marina Mora
- Jocelyn Laporte
Acta Neuropathologica ; Volume: 135 ; Page: 149-151
Article in a journal
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
- Hichem Tasfaout
- Suzie Buono
- Shuling Guo
- Christine Kretz
- Nadia Messaddeq
- Sheri Booten
- Sarah Greenlee
- Brett Monia
- Belinda Cowling
- Jocelyn Laporte
Nature Communications ; Volume: 8 ; Page: 15661