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
-
2021
-
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
-
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
-
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
-
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
-
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
-
-
2020
-
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
-
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
-
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
-
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants
- Kirsley Chennen
- Thomas Weber
- Xavière Lornage
- Arnaud Kress
- Johann Böhm
- Julie Thompson
- Jocelyn Laporte
- Olivier Poch
PLoS ONE ; Volume: 15 ; Page: e0236962
-
ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
- Rocío Villar‐quiles
- Fabio Catervi
- Eva Cabet
- Raul Juntas-Morales
- Casie A Genetti
- Teresa Gidaro
- Asuman Koparir
- Adnan Yüksel
- Sandra Coppens
- Nicolas Deconinck
- Emma Pierce‐hoffman
- Xavière Lornage
- Julien Durigneux
- Jocelyn Laporte
- John Rendu
- Norma B Romero
- Alan H Beggs
- Laurent Servais
- Mireille Cossée
- Montse Olivé
- ...
Annals of Neurology ; Volume: 87 ; Page: 217-232
-
Page 5 sur 23