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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2016
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Article in a journal
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels
- O. Abath Neto
- M. R. Silva
- A. Martins Cde
- S. Oliveira Ade
- U. C. Reed
- Valérie Biancalana
- J. B. Pesquero
- Jocelyn Laporte
- E. Zanoteli
Pediatric neurology ; Volume: 58 ; Page: 107-12
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2015
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Article in a journal
Tau phosphorylation regulates the interaction between BIN1’s SH3 domain and Tau’s proline-rich domain
- Yoann Sottejeau
- Alexis Bretteville
- François-Xavier Cantrelle
- Nicolas Malmanche
- Florie Demiaute
- Tiago Mendes
- Charlotte Delay
- Harmony Alves dos Alves
- Amandine Flaig
- Peter Davies
- Pierre Dourlen
- Bart Dermaut
- Jocelyn Laporte
- Philippe Amouyel
- Guy Lippens
- Julien Chapuis
- Isabelle Landrieu
- Jean-Charles Lambert
Acta Neuropathologica Communications ; Volume: 3
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Article in a journal
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy
- Edoardo Malfatti
- Soledad Monges
- Vilma-Lotta Lehtokari
- Ursula Schaeffer
- Osorio Abath Neto
- Kirsi Kiiski
- Fabiana Lubieniecki
- Ana Lía Taratuto
- Carina Wallgren-Pettersson
- Jocelyn Laporte
- Norma Beatriz Romero
European Journal of Medical Genetics ; Volume: 58 ; Page: 556-561
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Article in a journal
Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton
- Manuela d'Alessandro
- Karim Hnia
- Vincent Gache
- Catherine Koch
- Christos Gavriilidis
- David Rodriguez
- Anne-Sophie Nicot
- Norma B. Romero
- Yannick Schwab
- Edgar Gomes
- Michel Labouesse
- Jocelyn Laporte
Developmental Cell ; Volume: 35 ; Page: 186-198
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Article in a journal
Clinical massively parallel sequencing for the diagnosis of myopathies
- Svetlana Gorokhova
- Valerie Biancalana
- Nicolas Lévy
- Jocelyn Laporte
- Marc Bartoli
- Martin Krahn
Revue Neurologique ; Volume: 171 ; Page: 558-571
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Article in a journal
Developmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for Desminopathies
- Caroline Ramspacher
- Emily Steed
- Francesco Boselli
- Rita Ferreira
- Nathalie Faggianelli--Conrozier
- Stephane Roth
- Coralie Spiegelhalter
- Nadia Messaddeq
- Le Trinh
- Michael Liebling
- Nikhil Chacko
- Federico Tessadori
- Jeroen Bakkers
- Jocelyn Laporte
- Karim Hnia
- Julien Vermot
Cell Reports ; Volume: 11 ; Page: 1564-1576
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Article in a journal
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy
- Osorio Abath Neto
- Cristiane de Araújo Martins
- Mary Carvalho
- Gerson Chadi
- Katia Werneck Seitz
- Acary Souza Bulle Oliveira
- Umbertina Conti Reed
- Jocelyn Laporte
- Edmar Zanoteli
Genetics and Molecular Biology ; Volume: 38 ; Page: 147 - 151
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Article in a journal
VaRank: a simple and powerful tool for ranking genetic variants
- Véronique Geoffroy
- Cécile Pizot
- Claire Redin
- Amélie Piton
- Nasim Vasli
- Corinne Stoetzel
- André Blavier
- Jocelyn Laporte
- Jean Muller
PeerJ ; Volume: 3 ; Page: e796
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Article in a journal
Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis
- Valérie Biancalana
- Jocelyn Laporte
Journal of Neuromuscular Diseases ; Volume: 2 ; Page: 193-203
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Article in a journal
The caveolin–cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle
- Harriet P. Lo
- Susan J. Nixon
- Thomas E. Hall
- Belinda S Cowling
- Charles Ferguson
- Garry P. Morgan
- Nicole L. Schieber
- Manuel A. Fernandez-Rojo
- Michele Bastiani
- Matthias Floetenmeyer
- Nick Martel
- Jocelyn Laporte
- Paul F. Pilch
- Robert G. Parton
Journal of Cell Biology ; Volume: 210 ; Page: 833--849
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