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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2017
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Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
- Osorio Abath Neto
- Carlos Heise
- Cristiane de Araújo Martins Moreno
- Eduardo de Paula Estephan
- Lilia Mesrob
- Doris Lechner
- Anne Boland
- Jean-François Deleuze
- Acary Souza Bulle Oliveira
- Umbertina Reed
- Valerie Biancalana
- Jocelyn Laporte
- Edmar Zanoteli
Canadian Journal of Neurological Sciences ; Volume: 44 ; Page: 125-127
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Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
- Xavière Lornage
- Edoardo Malfatti
- Raphael Schneider
- Valerie Biancalana
- Jean Cuisset
- Matteo Garibaldi
- Bruno Eymard
- Michel Fardeau
- Anne Boland
- Jean Deleuze
- Julie D. Thompson
- Robert Carlier
- Johann Bohm
- Norma Romero
- Jocelyn Laporte
Ann Neurol ; Volume: 81 ; Page: 467-473
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ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy
- Johann Bohm
- Monica Bulla
- Jill Urquhart
- Edoardo Malfatti
- Simon Williams
- James O'Sullivan
- Anastazja Szlauer
- Catherine Koch
- Giovanni Baranello
- Martin Mora
- Michela Ripolone
- Raffaella Violano
- Maurizio Moggio
- Helen Kingston
- Timothy Dawson
- Christian Degoede
- John Nixon
- Anne Boland
- Jean-François Deleuze
- Norma Romero
- ...
Human Mutation ; Volume: 38 ; Page: 426-438
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Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
- Hichem Tasfaout
- Suzie Buono
- Shuling Guo
- Christine Kretz
- Nadia Messaddeq
- Sheri Booten
- Sarah Greenlee
- Brett Monia
- Belinda Cowling
- Jocelyn Laporte
Nature Communications ; Volume: 8
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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy
- Johann Bohm
- Xavière Lornage
- Frédéric Chevessier
- Catherine Birck
- Simona Zanotti
- Paola Cudia
- Monica Bulla
- Florence Granger
- Mai Thao Bui
- Maxime Sartori
- Christiane Schneider-Gold
- Edoardo Malfatti
- Norma Romero
- Marina Mora
- Jocelyn Laporte
Acta Neuropathologica ; Volume: 135 ; Page: 149-151
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Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems
- Gemma Walmsley
- Stéphane Blot
- Kerrie Venner
- Caroline Sewry
- Jocelyn Laporte
- Jordan Blondelle
- Inès Barthélémy
- Marie Maurer
- Nicolas Blanchard-Gutton
- Fanny Pilot-Storck
- Laurent L. Tiret
- Richard Piercy
American Journal of Pathology ; Volume: 187 ; Page: 441-456
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
- Vanessa Schartner
- Norma Romero
- Sandra Donkervoort
- Susan Treves
- Pinki Munot
- Tyler Pierson
- Ivana Dabaj
- Edoardo Malfatti
- Irina Zaharieva
- Francesco Zorzato
- Osario Abath Neto
- Guy Brochier
- Xavière Lornage
- Bruno Eymard
- Ana Taratuto
- Johann Böhm
- Hernan Gonorazky
- Leigh Ramos-Platt
- Lucy Feng
- Rahul Phadke
- ...
Acta Neuropathologica ; Volume: 133 ; Page: 517-533
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2016
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Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
- Nasim Vasli
- Elizabeth Harris
- Jason Karamchandani
- Eric Bareke
- Jacek Majewski
- Norma B. Romero
- Tanya Stojkovic
- Rita Barresi
- Hichem Tasfaout
- Richard Charlton
- Edoardo Malfatti
- Johann Böhm
- Chiara Marini-Bettolo
- Karine Choquet
- Marie-Josée Dicaire
- Yi-Hong Shao
- Ana Topf
- Erin O’ferrall
- Bruno Eymard
- Volker Straub
- ...
Brain - A Journal of Neurology ; Volume: 140 ; Page: 37-48
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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
- Gina L. O’grady
- Heather A. Best
- Tamar E. Sztal
- Vanessa Schartner
- Myriam Sanjuan-Vazquez
- Sandra Donkervoort
- Osorio Abath Neto
- Roger Bryan Sutton
- Biljana Ilkovski
- Norma Beatriz Romero
- Tanya Stojkovic
- Jahannaz Dastgir
- Leigh B. Waddell
- Anne Boland
- Ying Hu
- Caitlin Williams
- Avnika A. Ruparelia
- Thierry Maisonobe
- Anthony J. Peduto
- Stephen W. Reddel
- ...
American Journal of Human Genetics ; Volume: 99 ; Page: 1086-1105
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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
- Stéphanie Bauché
- Seana O’regan
- Yoshiteru Azuma
- Fanny Laffargue
- Grace Mcmacken
- Damien Sternberg
- Guy Brochier
- Céline Buon
- Nassima Bouzidi
- Ana Topf
- Emmanuelle Lacène
- Ganaelle Remerand
- Anne Beaufrere
- Céline Pebrel-Richard
- Julien Thévenon
- Salima El chehadeh-Djebbar
- Laure Faivre
- Yannis Duffourd
- Federica Ricci
- Tiziana Mongini
- ...
American Journal of Human Genetics ; Volume: 99 ; Page: 753 - 761
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