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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2019
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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
- Xavière Lornage
- Norma B Romero
- Claire A. Grosgogeat
- Eduardo Malfatti
- Sandra Donkervoort
- Michael Marchetti
- Sarah B. Neuhaus
- A. Reghan Foley
- Clémence Labasse
- Raphael Schneider
- Robert Y. Carlier
- Katherine R Chao
- Livija Medne
- Jean-François Deleuze
- David Orlikowski
- Cartsen G. Bonnemann
- Vandana A Gupta
- Michel Fardeau
- Johann Böhm
- Jocelyn Laporte
Acta Neuropathologica ; Volume: 137 ; Page: 501-519
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La myopathie liée à PYROXD1: Caractérisation clinique, histologique, et génétique. [PYROXD1-related myopathy]
- Xavière Lornage
- Norma Romero
- Jocelyn Laporte
- Johann Bohm
Médecine/Sciences ; Volume: 35 ; Page: 43-44
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Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies
- Vanessa Schartner
- Jocelyn Laporte
- Johann Böhm
Journal of Neuromuscular Diseases ; Volume: 6 ; Page: 289 - 305
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STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice
- Roberto Silva Rojas
- Susan Treves
- Hugues Jacobs
- Pascal Kessler
- Nadia Messaddeq
- Jocelyn Laporte
- Johann Böhm
Human Molecular Genetics ; Volume: 28 ; Page: 1579-1593
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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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Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
- Johann Böhm
- Edoardo Malfatti
- Emily Oates
- Kristi Jones
- Guy Brochier
- Anne Boland
- Jean-François Deleuze
- Norma Beatriz Romero
- Jocelyn Laporte
Journal of Medical Genetics ; Volume: 56 ; Page: 617-621
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Clinical, histological, and genetic characterization of PYROXD1-related myopathy
- Xavière Lornage
- Vanessa Schartner
- Inès Balbueno
- Valérie Biancalana
- Tracey Willis
- Andoni Echaniz-Laguna
- Sophie Scheidecker
- Ros Quinlivan
- Michel Fardeau
- Edoardo Malfatti
- Béatrice Lannes
- Caroline Sewry
- Norma B. Romero
- Jocelyn Laporte
- Johann Böhm
Acta Neuropathologica Communications ; Volume: 7 ; Page: 138
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Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy
- Xènia Massana Munoz
- Suzie Buono
- Pascale Koebel
- Jocelyn Laporte
- Belinda Cowling
Human Molecular Genetics ; Volume: 28 ; Page: 4067-4077
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Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia
- M Pinto
- S Monges
- E Malfatti
- F Lubieniecki
- Xavière Lornage
- L Alias
- C Labasse
- A Madelaine
- M Fardeau
- Jocelyn Laporte
- E Tizzano
- N Romero
Muscle & Nerve ; Volume: 59 ; Page: 137-141
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2018
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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
- Rainiero Ávila-Polo
- Edoardo Malfatti
- Xavière Lornage
- Chrystel Cheraud
- Isabelle Nelson
- Juliette Nectoux
- Johann Böhm
- Carola Hedberg-Oldfors
- Bruno Eymard
- Soledad Monges
- Fabiana Lubieniecki
- Guy Brochier
- Mai Thao Bui
- Angéline Madelaine
- Clémence Labasse
- Maud Beuvin
- Emmanuelle Lacène
- Anne Boland
- Jean-François Deleuze
- Julie D. Thompson
- ...
Journal of Neuropathology and Experimental Neurology ; Volume: 77 ; Page: 1101-1114
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