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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2024
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Article in a journal
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
- Yvan de Feraudy
- Marie Vandroux
- Norma Beatriz Romero
- Raphaël Schneider
- Safaa Saker
- Anne Boland
- Jean-François Deleuze
- Jean‐françois Deleuze
- Valérie Biancalana
- Johann Böhm
- Jocelyn Laporte
Genome Medicine ; Volume: 16 ; Page: 87
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Article in a journal
Amphiphysin-2 (BIN1) functions and defects in cardiac and skeletal muscle
- Quentin Giraud
- Jocelyn Laporte
Trends in Molecular Medicine ; Volume: 30 ; Page: 579-591
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Article in a journal
BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation
- Laura Picas
- Charlotte André-Arpin
- Franck Comunale
- Hugo Bousquet
- Feng-Ching Tsai
- Félix Rico
- Paolo Maiuri
- Julien Pernier
- Stéphane Bodin
- Anne‐sophie Nicot
- Jocelyn Laporte
- Patricia Bassereau
- Bruno Goud
- Cécile Gauthier-Rouvière
- Stéphanie Miserey
Communications Biology ; Volume: 7 ; Page: 549
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Article in a journal
Comparative in vivo characterization of newly discovered myotropic adeno-associated vectors
- Jacqueline Ji
- Elise Lefebvre
- Jocelyn Laporte
Skeletal Muscle ; Volume: 14
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Article in a journal
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
- Ana Töpf
- Dan Cox
- Irina T. Zaharieva
- Valeria Di Leo
- Jaakko Sarparanta
- Per Harald Jonson
- Ian M. Sealy
- Andrei Smolnikov
- Richard J. White
- Anna Vihola
- Marco Savarese
- Munise Merteroglu
- Neha Wali
- Kristen M. Laricchia
- Cristina Venturini
- Bas Vroling
- Sarah L. Stenton
- Beryl B. Cummings
- Elizabeth Harris
- Chiara Marini-Bettolo
- ...
Nature Genetics ; Volume: 56 ; Page: 395-407
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Article in a journal
Une cible thérapeutique contre la myopathie myotubulaire
- Marie Goret
- Jocelyn Laporte
Médecine/Sciences ; Volume: 40 ; Page: 133-136
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Article in a journal
The Rogdi knockout mouse is a model for Kohlschütter–Tönz syndrome
- Alexandra Jimenez-Armijo
- Supawich Morkmued
- José Tomás Ahumada
- Naji Kharouf
- Yvan de Feraudy
- Gergo Gogl
- Fabrice Riet
- Karen Niederreither
- Jocelyn Laporte
- Marie Christine Birling
- Mohammed Selloum
- Yann Hérault
- Magali Hernandez
- Agnès Bloch-Zupan
Scientific Reports ; Volume: 14 ; Page: 445
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Article in a journal
IMPatienT: an Integrated web application to digitize, process and explore Multimodal PATIENt daTa
- Corentin Meyer
- Norma Romero
- Teresinha Evangelista
- Brunot Cadot
- Jocelyn Laporte
- Anne Jeannin-Girardon
- Pierre Collet
- Kirsley Chennen
- Olivier Poch
Journal of Neuromuscular Diseases ; Page: Online ahead of print
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2023
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Article in a journal
Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation
- Laura Vanden Brande
- Stéphanie Bauché
- Laura Pérez-Guàrdia
- Damien Sternberg
- Andreea Seferian
- Edoardo Malfatti
- Roberto Silva-Rojas
- Clémence Labasse
- Frédéric Chevessier
- Pierre Carlier
- Bruno Eymard
- Norma Romero
- Jocelyn Laporte
- Laurent Servais
- Teresa Gidaro
- Johann Böhm
Neuropathology and Applied Neurobiology ; Volume: 50
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Article in a journal
Une cible thérapeutique prometteuse dans la myopathie myotubulaire
- Marie Goret
- Xènia Massana Muñoz
- Vasugi Nattarayan
- David Reiss
- Jocelyn Laporte
Médecine/Sciences ; Volume: 39 ; Page: 32-36
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