Physiopathologie des maladies neuromusculaires
Chef d'équipe : Jocelyn LAPORTE
Département : Médecine translationnelle et neurogénétique
Jocelyn LAPORTE
Chercheur
Directeur de recherche Inserm
jocelyn@igbmc.fr
Équipe(s)
Sous-groupe(s)
Publications
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2016
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Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy
- Rana Mansour
- Sonia Severin
- Jean-Marie Xuereb
- Marie-Pierre Gratacap
- Jocelyn Laporte
- Ana Buj-Bello
- Hélène Tronchère
- Bernard Payrastre
Biochemical and Biophysical Research Communications ; Volume: 476 ; Page: 167-173
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Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation
- M. Garibaldi
- Johann Bohm
- F. Fattori
- Catherine Koch
- C. Surace
- P. Ottaviani
- F. Laschena
- Jocelyn Laporte
- E. Bertini
- G. Antonini
- N. B. Romero
Journal of Neuromuscular Diseases ; Volume: 3 ; Page: 111-114
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A phosphoinositide conversion mechanism for exit from endosomes
- K. Ketel
- M. Krauss
- Anne-Sophie Nicot
- D. Puchkov
- M. Wieffer
- R. Muller
- D. Subramanian
- C. Schultz
- Jocelyn Laporte
- V. Haucke
Nature ; Volume: 529 ; Page: 408-12
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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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In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy
- Luc Mercier
- Johann Böhm
- Nina Fekonja
- Guillaume Allio
- Yves Lutz
- Marc Koch
- Jacky Goetz
- Jocelyn Laporte
IntraVital ; Volume: 5
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2015
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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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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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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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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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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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