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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2020
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Attitudes towards Genetic Information Delivered by High-Throughput Sequencing among Molecular Geneticists, Genetic Counselors, Medical Advisors and Students in France
- Vlad Titerlea
- Doulaye Dembélé
- Jean-Louis Mandel
- Jocelyn Laporte
European Journal of Medical Genetics ; Volume: 63
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Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome
- Georges Peche
- Coralie Spiegelhalter
- Roberto Silva Rojas
- Jocelyn Laporte
- Johann Böhm
Neuropathology ; Volume: 40 ; Page: 559-569
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2019
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BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr348 phosphorylation
- Maxime Sartori
- Tiago P. Mendes
- Shruti Desai
- Alessia Lasorsa
- Adrien Herledan
- Nicolas Malmanche
- Petra Mäkinen
- Mikael Marttinen
- Idir Malki
- Julien Chapuis
- Amandine Flaig
- Anaïs-Camille Vreulx
- Marion Ciancia
- Philippe Amouyel
- Florence Leroux
- Benoit Déprez
- François-Xavier Cantrelle
- Damien Marechal
- Laurent Pradier
- Mikko Hiltunen
- ...
Acta Neuropathologica ; Volume: 138 ; Page: 631-652
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214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015
- Alan H. Beggs
- Gisèle Bonne
- Carsten Bönnemann
- Sandra Donkervoort
- James J. Dowling
- Victor Dubowitz
- Michael Goldberg
- Morton Goldberg
- Yann Hérault
- Mert Karakaya
- Jocelyn Laporte
- Anne Lennox
- Daniel Macarthur
- Eduardo Malfatti
- Katherine Mathews
- Marina Mora
- Ichizo Nishino
- Emily Oates
- Anne Rutkowski
- Melanie Spring
- ...
Neuromuscular Disorders ; Volume: 29 ; Page: 644-650
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INEX-MED: INtegration and EXploration of heterogeneous bio-MEDical data, INEX-MED -INtégration et EXploration de données bioMEDicales hétérogènes l'ensemble du consortium INEX-MED
- Alban Gaignard
- Julie D. Thompson
- Kirsley Chennen
- Maxime Folschette
- Jocelyn Laporte
- Olivier Poch
- Richard Redon
- Hala Skaf-Molli
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INEX-MED: a Knowledge Graph to explore and link heterogeneous bio-medical data
- Maxime Folschette
- Kirsley Chennen
- Alban Gaignard
- Richard Redon
- Hala Skaf-Molli
- Olivier Poch
- Jocelyn Laporte
- Julie D Thompson
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Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes
- Aymen Rabai
- Léa Reisser
- Bernardo Reina-San-Martin
- Kamel Mamchaoui
- Belinda S. Cowling
- Anne-Sophie Nicot
- Jocelyn Laporte
Molecular Therapy - Nucleic Acids
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Preserved Ca2+ signaling and excitation-contraction coupling in muscle fibers from Bin1 exon-11 knockout mice.
- Candice Kutchukian
- Ivana Zivkovic Prokic
- Jocelyn Laporte
- Vincent Jacquemond
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Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice
- Valentina Lionello
- Anne-Sophie Nicot
- Maxime Sartori
- Christine Kretz
- Pascal Kessler
- Suzie Buono
- Sarah Djerroud
- Nadia Messaddeq
- Pascale Koebel
- Ivana Zivkovic Prokic
- Yann Hérault
- Norma B Romero
- Jocelyn Laporte
- Belinda S. Cowling
Science Translational Medicine ; Volume: 11 ; Page: eaav1866
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HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes
- Andrés Berardo
- Xavière Lornage
- Mridul Johari
- Teresinha Evangelista
- Claudia Cejas
- Fabio Barroso
- Alberto Dubrovsky
- Mai Thao Bui
- Guy Brochier
- Maria Saccoliti
- Johann Böhm
- Bjarne Udd
- Jocelyn Laporte
- Norma Beatriz Romero
- Ana Lia Taratuto
Journal of Neurology ; Volume: 266 ; Page: 2524-2534
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