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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2012
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Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle
- Karim Hnia
- Christine Kretz
- Leonela Amoasii
- Johann Böhm
- Xia Liu
- Nadia Messaddeq
- Cheng-Kui Qu
- Jocelyn Laporte
Advances in Biological Regulation ; Volume: 52 ; Page: 98-107
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Next generation sequencing for molecular diagnosis of neuromuscular diseases
- Nasim Vasli
- Johann Böhm
- Stéphanie Le Gras
- Jean Muller
- Cécile Pizot
- Bernard Jost
- Andoni Echaniz‐laguna
- Vincent Laugel
- Christine Tranchant
- Rafaelle Bernard
- Frederic Plewniak
- Serge Vicaire
- Nicolas Levy
- Jamel Chelly
- Jean-Louis Mandel
- Valerie Biancalana
- Jocelyn Laporte
Acta Neuropathologica ; Volume: 124 ; Page: 273 - 283
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Clinical utility gene card for: Centronuclear and myotubular myopathies
- Valerie Biancalana
- Alan H. Beggs
- Soma Das
- Heinz Jungbluth
- Wolfram Kress
- Ichizo Nishino
- Kathryn N. North
- Norma Beatriz Romero
- Jocelyn Laporte
European Journal of Human Genetics ; Volume: 20 ; Page: 1101--1101
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Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
- Leonela Amoasii
- Dimitri L. Bertazzi
- Hélène Tronchère
- Karim Hnia
- Gaëtan Chicanne
- Bruno Rinaldi
- Belinda S. Cowling
- Arnaud Ferry
- Bruno Klaholz
- Bernard Payrastre
- Jocelyn Laporte
- Sylvie Friant
PLoS Genetics ; Volume: 8 ; Page: e1002965
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2011
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T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases.
- Lama Al-Qusairi
- Jocelyn Laporte
Skeletal Muscle ; Volume: 1 ; Page: 26
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Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
- Charlotte Fugier
- Arnaud F Klein
- Caroline Hammer
- Stéphane Vassilopoulos
- Ylva Ivarsson
- Anne Toussaint
- Valérie Tosch
- Alban Vignaud
- Arnaud Ferry
- Nadia Messaddeq
- Yosuke Kokunai
- Rie Tsuburaya
- Pierre de La Grange
- Doulaye Dembele
- Virginie Francois
- Guillaume Precigout
- Charlotte Boulade-Ladame
- Marie-Christine Hummel
- Adolfo Lopez de Munain
- Nicolas Sergeant
- ...
Nature Medicine ; Volume: 17 ; Page: 720-5
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Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
- Stephanie Robb
- Caroline Sewry
- James Dowling
- Lucy Feng
- Tom Cullup
- Sue Lillis
- Stephen Abbs
- Melissa Lees
- Jocelyn Laporte
- Adnan Manzur
- Ravi Knight
- Kerry Mills
- Francesco Muntoni
- Michael Pike
- Wolfram Kress
- David Beeson
- Heinz Jungbluth
Neuromuscular Disorders ; Volume: 21 ; Page: 379-386
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The myotubularin-desmin complex regulates mitochondria dynamics, Myotubularine et desmine
- Karim Hnia
- Jocelyn Laporte
Médecine/Sciences ; Volume: 27 ; Page: 458-460
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Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness
- Belinda S Cowling
- Anne Toussaint
- Leonela Amoasii
- Pascale Koebel
- Arnaud Ferry
- Laurianne Davignon
- Ichizo Nishino
- Jean-Louis Mandel
- Jocelyn Laporte
American Journal of Pathology ; Volume: 178 ; Page: 2224-2235
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Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
- Karim Hnia
- Helene Tronchère
- Kinga K Tomczak
- Leonela Amoasii
- Patrick Schultz
- Alan H Beggs
- Bernard Payrastre
- Jean Louis Mandel
- Jocelyn Laporte
Journal of Clinical Investigation ; Volume: 121 ; Page: 70 - 85
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