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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2018
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Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
- Valérie Biancalana
- Norma Romero
- Inger Johanne Thuestad
- Jaakko Ignatius
- Janne Kataja
- Maria Gardberg
- Dephine Héron
- Edoardo Malfatti
- Anders Oldfors
- Jocelyn Laporte
Acta Neuropathologica Communications ; Volume: 6
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The MTM1–UBQLN2–HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle
- Christos Gavriilidis
- Leila Laredj
- Romain Solinhac
- Nadia Messaddeq
- Julien Viaud
- Jocelyn Laporte
- Izabela Sumara
- Karim Hnia
Nature Cell Biology ; Volume: 20 ; Page: 198-210
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Analyse intégrée du grand projet de séquençage MYOCAPTURE d’identification de nouveaux gènes de myopathies
- Jocelyn Laporte
- Raphael Schneider
- Edoardo Malfatti
- Gisèle Bonne
- France Leturcq
- Juliette Nectoux
- Isabelle Nelson
- Isabelle Richard
- Martin Krahn
- Safaa Saker
- Marc Bartoli
- Valérie Biancalana
- Anne Boland
- Julie Thompson
- Norma Romero
- Johann Böhm
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Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome
- Johann Bohm
- Jocelyn Laporte
Cell Calcium ; Volume: 76 ; Page: 1-9
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Centronuclear myopathies under attack: A plethora of therapeutic targets
- Hichem Tasfaout
- Belinda S. Cowling
- Jocelyn Laporte
Journal of Neuromuscular Diseases ; Volume: 5 ; Page: 387 - 406
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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
EMBO Molecular Medicine ; Volume: 10 ; Page: 239-253
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Discordant manifestations in Italian brothers with GNE myopathy
- Maria-Teresa Dotti
- Alessandro Malandrini
- Xavière Lornage
- Andrea Mignarri
- Teresa Anna Cantisani
- Johann Böhm
- Jocelyn Laporte
- Edoardo Malfatti
J Neurol Sci ; Volume: 386 ; Page: 1-3
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Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
- Ivana Dabaj
- Robert Carlier
- David Gomez-Andres
- Osório Neto
- Enrico Bertini
- Adele d'Amico
- Fabiana Fattori
- Yann Pereon
- Claudia Castiglioni
- Elliena Rodillo
- Michela Catteruccia
- Julio Guimaraes
- Acary Oliveira
- Umbertina Reed
- Lilia Mesrob
- Doris Lechner
- Anne Boland
- Jean-François Deleuze
- Edoardo Malfatti
- Carsten Bonnemann
- ...
Muscle & Nerve ; Volume: 58 ; Page: 224-234
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A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
- Macarena Cabrera-Serrano
- Fabiola Mavillard
- Valerie Biancalana
- Eloy Rivas
- Bharti Morar
- Aurelio Hernandez-Lain
- Montse Olive
- Nuria Muelas
- Eduardo Khan
- Alejandra Carvajal
- Pablo Quiroga
- Jordi Diaz-Manera
- Mark Davis
- Rainiero Avila
- Cristina Dominguez
- Norma Romero
- Juan Vilchez
- David Comas
- Nigel Laing
- Jocelyn Laporte
- ...
Neurology ; Volume: 91 ; Page: 339-348
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Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy
- Suzie Buono
- Jacob Ross
- Hichem Tasfaout
- Yotam Levy
- Christine Kretz
- Leighla Tayefeh
- John Matson
- Shuling Guo
- Pascal Kessler
- Brett Monia
- Marc Bitoun
- Julien Ochala
- Jocelyn Laporte
- Belinda Cowling
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 115 ; Page: 11066-11071
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