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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Article in a journal
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology
- Karim Hnia
- Ilaria Vaccari
- Alessandra Bolino
- Jocelyn Laporte
Trends in Molecular Medicine ; Volume: 18 ; Page: 317-327
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Article in a journal
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
- Johann Böhm
- Valérie Biancalana
- Elizabeth T Dechene
- Marc Bitoun
- Christophe Pierson
- Elise Schaefer
- Hatice Karasoy
- Melissa A Dempsey
- Fabrice Klein
- Nicolas Dondaine
- Christine Kretz
- Nicolas Haumesser
- Claire Poirson
- Anne Toussaint
- Rebecca S Greenleaf
- Melissa A Barger
- Lane J Mahoney
- Peter B Kang
- Edmar Zanoteli
- John Vissing
- ...
Human Mutation ; Volume: 33 ; Page: 949 - 959
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Article in a journal » Review article
Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models
- Belinda S Cowling
- Anne Toussaint
- Jean Muller
- Jocelyn Laporte
PLoS Genetics ; Volume: 8 ; Page: e1002595
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Article in a journal
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype
- Nasim Vasli
- Vincent Laugel
- Johann Böhm
- Béatrice Lannes
- Valerie Biancalana
- Jocelyn Laporte
European Journal of Human Genetics ; Volume: 20 ; Page: 701-704
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Article in a journal
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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Article in a journal
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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Article in a journal
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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Article in a journal
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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2011
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Article in a journal
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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Article in a journal
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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