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
2015
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
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
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
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
2014
Article in a journal
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
- Johann Böhm
- Valerie Biancalana
- Edoardo Malfatti
- Nicolas Dondaine
- Catherine Koch
- Nasim Vasli
- Wolfram Kress
- Matthias Strittmatter
- Ana Lía Taratuto
- Hernan Gonorazky
- Pascal Laforet
- Thierry Maisonobe
- Montse Olivé
- Laura González-Mera
- Michel Fardeau
- Nathalie Carrière
- Pierre Clavelou
- Bruno Eymard
- Marc Bitoun
- John Rendu
- ...
Brain - A Journal of Neurology ; Volume: 137 ; Page: 3160-3170
Article in a journal
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
- Johann Böhm
- Valérie Biancalana
- Edoardo Malfatti
- Nicolas Dondaine
- Catherine Koch
- Nasim Vasli
- Wolfram Kress
- Matthias Strittmatter
- Ana Lia Taratuto
- Hernan Gonorazky
- Pascal Laforêt
- Thierry Maisonobe
- Montse Olivé
- Laura Gonzalez-Mera
- Michel Fardeau
- Nathalie Carrière
- Pierre Clavelou
- Bruno Eymard
- Marc Bitoun
- John Rendu
- ...
Brain - A Journal of Neurology ; Volume: 137 ; Page: 3160-3170
Article in a journal
BIN1/M-Amphiphysin2 induces clustering of phosphoinositides to recruit its downstream partner dynamin
- Laura Picas
- Julien Viaud
- Kristine Schauer
- Stefano Vanni
- Karim Hnia
- Vincent Fraisier
- Aurelien Roux
- Patricia Bassereau
- Frédérique Gaits-Iacovoni
- Bernard Payrastre
- Jocelyn Laporte
- Jean-Baptiste Manneville
- Bruno Goud
Nature Communications ; Volume: 5 ; Page: 5647
Article in a journal
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
- Johann Böhm
- Frédéric Chevessier
- Catherine Koch
- G Arielle Peche
- Marina Mora
- Lucia Morandi
- Barbara Pasanisi
- Isabella Moroni
- Giorgio Tasca
- Fabiana Fattori
- Enzo Ricci
- Isabelle Pénisson-Besnier
- Aleksandra Nadaj-Pakleza
- Michel Fardeau
- Pushpa Raj Joshi
- Marcus Deschauer
- Norma Beatriz Romero
- Bruno Eymard
- Jocelyn Laporte
Journal of Medical Genetics ; Volume: 51 ; Page: 824-833
Article in a journal
N‐ WASP is required for Amphiphysin‐2/ BIN 1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy
- Sestina Falcone
- William Roman
- Karim Hnia
- Vincent Gache
- Nathalie Didier
- Jeanne Lainé
- Frederic Auradé
- Isabelle Marty
- Ichizo Nishino
- Nicolas Charlet‐berguerand
- Norma Beatriz Romero
- Giovanna Marazzi
- David Sassoon
- Jocelyn Laporte
- Edgar Gomes
EMBO Molecular Medicine ; Volume: 6 ; Page: 1455-1475
Article in a journal
Desmin in muscle and associated diseases: beyond the structural function
- Karim Hnia
- Caroline Ramspacher
- Julien Vermot
- Jocelyn Laporte
Cell and Tissue Research ; Volume: 360 ; Page: 591-608