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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2010
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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
- Anne Toussaint
- Belinda S Cowling
- Karim Hnia
- Michel Mohr
- Anders Oldfors
- Yannick Schwab
- Uluç Yiş
- Thierry Maisonobe
- Tanya Stojkovic
- Carina Wallgren-Pettersson
- Vincent Laugel
- Andoni Echaniz-Laguna
- Jean-Louis Mandel
- Ichizo Nishino
- Jocelyn Laporte
Acta Neuropathologica ; Volume: 121 ; Page: 253-266
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MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
- Alan H. Beggs
- Johann Böhm
- Elizabeth Snead
- Marek Kozlowski
- Marie Maurer
- Katie Minor
- Martin K. Childers
- Susan M. Taylor
- Christophe Hitte
- James R. Mickelson
- Ling T. Guo
- Andrew P. Mizisin
- Anna Buj-Bello
- Laurent Tiret
- Jocelyn Laporte
- G Diane Shelton
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 107 ; Page: 14697-702
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Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
- Verity Mcclelland
- Thomas Cullup
- Istvan Bodi
- Deborah Ruddy
- Anna Buj-Bello
- Valerie Biancalana
- J. Boehm
- Marc Bitoun
- Owen Miller
- Wajanat Jan
- Esse Menson
- Luis Amaya
- John Trounce
- Jocelyn Laporte
- Shehla Mohammed
- Caroline Sewry
- Julian Raiman
- Heinz Jungbluth
American Journal of Medical Genetics Part A ; Volume: 152A ; Page: 741-747
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Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.
- Johann Böhm
- Uluç Yiş
- Ragip Ortaç
- Handan Çakmakçi
- Semra Hiz Kurul
- Eray Dirik
- Jocelyn Laporte
Orphanet Journal of Rare Diseases ; Volume: 5 ; Page: 35
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Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations
- Valérie Tosch
- Nasim Vasli
- Christine Kretz
- Anne-Sophie Nicot
- Claire Gasnier
- Nicolas Dondaine
- Denis Oriot
- Magalie Barth
- Hugues Puissant
- Norma B. Romero
- Carsten G. Bönnemann
- Betty Heller
- Gilles Duval
- Valérie Biancalana
- Jocelyn Laporte
Neuromuscul Disord ; Volume: 20 ; Page: 375-381
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Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset
- Atle Melberg
- Christine Kretz
- Hannu Kalimo
- Carina Wallgren-Pettersson
- Anne Toussaint
- Johann Böhm
- Erik Stålberg
- Jocelyn Laporte
Neuromuscul Disord ; Volume: 20 ; Page: 53-56
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Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation
- K Claeys
- T Maisonobe
- Johann Böhm
- Jocelyn Laporte
- M Hezode
- N Romero
- G Brochier
- M Bitoun
- R Carlier
- T Stojkovic
Neurology ; Volume: 74 ; Page: 519-521
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From Dynamic Live Cell Imaging to 3D Ultrastructure: Novel Integrated Methods for High Pressure Freezing and Correlative Light-Electron Microscopy.
- Coralie Spiegelhalter
- Valérie Tosch
- Didier Hentsch
- Marc Koch
- Pascal Kessler
- Yannick Schwab
- Jocelyn Laporte
PLoS ONE ; Volume: 5 ; Page: e9014
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2009
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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
- Lama Al-Qusairi
- Norbert Weiss
- Anne Toussaint
- Céline Berbey
- Nadia Messaddeq
- Christine Kretz
- Despina Sanoudou
- Alan Beggs
- Bruno Allard
- Jean-Louis Mandel
- Jocelyn Laporte
- Vincent Jacquemond
- Anna Buj-Bello
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 106 ; Page: 18763-18768
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164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands
- Heinz Jungbluth
- Carina Wallgren-Pettersson
- Jocelyn Laporte
Neuromuscul Disord ; Volume: 19 ; Page: 721-729
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