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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2021
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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
- Valérie Biancalana
- John Rendu
- Annabelle Chaussenot
- Helen Mecili
- Eric Bieth
- Mélanie Fradin
- Sandra Mercier
- Maud Michaud
- Marie-Christine Nougues
- Laurent Pasquier
- Sabrina Sacconi
- Norma Romero
- Pascale Marcorelles
- François Jérôme Authier
- Antoinette Gelot Bernabe
- Emmanuelle Uro-Coste
- Claude Cances
- Bertrand Isidor
- Armelle Magot
- Marie-Christine Minot-Myhie
- ...
Acta Neuropathologica Communications ; Volume: 9 ; Page: 155
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Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances
- Raquel Gómez-Oca
- Belinda Cowling
- Jocelyn Laporte
International Journal of Molecular Sciences ; Volume: 22 ; Page: 11377
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Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes
- Roberto Silva-Rojas
- Vasugi Nattarayan
- Francisco Jaque-Fernandez
- Raquel Gomez-Oca
- Alexia Menuet
- David Reiss
- Marie Goret
- Nadia Messaddeq
- Valentina M Lionello
- Christine Kretz
- Belinda S Cowling
- Vincent Jacquemond
- Jocelyn Laporte
Molecular Therapy
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Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure
- Roberto Silva-Rojas
- Anne-Laure Charles
- Sarah Djeddi
- Bernard Geny
- Jocelyn Laporte
- Johann Böhm
Cells ; Volume: 10 ; Page: 1730
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Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
- Xavière Lornage
- Martial Mallaret
- Roberto Silva-Rojas
- Valérie Biancalana
- Diane Giovannini
- Klaus Dieterich
- Safaa Saker
- Jean-François Deleuze
- Bernard Wuyam
- Jocelyn Laporte
- Johann Böhm
neurogenetics ; Volume: 22 ; Page: 33-41
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)
- Daniel Klionsky
- Amal Kamal Abdel-Aziz
- Sara Abdelfatah
- Mahmoud Abdellatif
- Asghar Abdoli
- Steffen Abel
- Hagai Abeliovich
- Marie Abildgaard
- Yakubu Princely Abudu
- Abraham Acevedo-Arozena
- Iannis Adamopoulos
- Khosrow Adeli
- Timon Adolph
- Annagrazia Adornetto
- Elma Aflaki
- Galila Agam
- Anupam Agarwal
- Bharat Aggarwal
- Maria Agnello
- Patrizia Agostinis
- ...
Autophagy ; Volume: 17 ; Page: 1-382
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Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies
- Sarah Djeddi
- David Reiss
- Alexia Menuet
- Sébastien Freismuth
- Juliana de Carvalho Neves
- Sarah Djerroud
- Xènia Massana Munoz
- Anne-Sophie Sosson
- Christine Kretz
- Wolfgang Raffelsberger
- Céline Keime
- Olivier M. Dorchies
- Julie Thompson
- Jocelyn Laporte
Molecular Therapy
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2020
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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
- Sandra Donkervoort
- Carl Kutzner
- Ying Hu
- Xavière Lornage
- John Rendu
- Tanya Stojkovic
- Jonathan Baets
- Sarah Neuhaus
- Jantima Tanboon
- Reza Maroofian
- Véronique Bolduc
- Magdalena Mroczek
- Stefan Conijn
- Nancy Kuntz
- Ana Töpf
- Soledad Monges
- Fabiana Lubieniecki
- Riley Mccarty
- Katherine Chao
- Serena Governali
- ...
American Journal of Human Genetics ; Volume: 107 ; Page: 1078-1095
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STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases
- Roberto Silva Rojas
- Jocelyn Laporte
- Johann Böhm
Frontiers in Physiology ; Volume: 11
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Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin Graphical abstract
- Xènia Massana Muñoz
- Christine Kretz
- Roberto Silva-Rojas
- Julien Ochala
- Alexia Menuet
- Norma Romero
- Xènia Massana Muñoz
- Belinda S Cowling
- Jocelyn Laporte
JCI Insight ; Volume: 5
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