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
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2020
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GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
- A. Reghan Foley
- Yaqun Zou
- James E. Dunford
- Jachinta Rooney
- Goutam Chandra
- Hui Xiong
- V. Straub
- Thomas Voit
- Norma Beatriz Romero
- Sandra Donkervoort
- Ying Hu
- Thomas C. Markello
- Adam Horn
- Leila Qebibo
- Jahannaz Dastgir
- Katherine Gloria Meilleur
- Richard S. Finkel
- Yanbin Fan
- Kamel Mamchaoui
- Stéphanie Marie Rose Duguez
- ...
Annals of Neurology ; Volume: 88 ; Page: 332-347
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A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation
- Andoni Echaniz-Laguna
- Xaviére Lornage
- Pascal Laforêt
- Mette Cathrine Orngreen
- Evelina F. Edelweiss
- Guy Brochier
- Mai Thao Bui
- Roberto Silva-Rojas
- Catherine Birck
- Béatrice Lannes
- Norma Beatriz Romero
- John Vissing
- Jocelyn Laporte
- Johann Böhm
Annals of Neurology ; Volume: 88 ; Page: 274-282
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Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
- Catherine Koch
- Suzie Buono
- Alexia Menuet
- Anne Robé
- Sarah Djeddi
- Christine Kretz
- Raquel Gomez Oca
- Marion Depla
- Arnaud Monseur
- Leen Thielemans
- Laurent Servais
- Jocelyn Laporte
- Belinda Cowling
Molecular Therapy - Methods and Clinical Development ; Volume: 17 ; Page: 1178-1189
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A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers
- Teresinha Evangelista
- Xavière Lornage
- Pierre Carlier
- Guillaume Bassez
- Guy Brochier
- Anaïs Chanut
- Emmanuelle Lacène
- Mai-Thao Bui
- Corinne Metay
- Ursula Oppermann
- Johann Böhm
- Jocelyn Laporte
- Norma Romero
Journal of Neurology, Neurosurgery and Psychiatry ; Volume: 79 ; Page: 908-914
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Asymmetric muscle weakness due to ACTA1 mosaic mutations
- Xaviére Lornage
- Susana Quijano-Roy
- Robert Yves Carlier
- Nicole Monnier
- Jean François Deleuze
- Norma Beatriz Romero
- Jocelyn Laporte
- Johann Böhm
- Helge Amthor
Neurology ; Volume: 95 ; Page: e3406-e3411
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Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation
- Gilles Morin
- Valérie Biancalana
- Andoni Echaniz-Laguna
- Jean-Baptiste Noury
- Xavière Lornage
- Maurizio Moggio
- Michela Ripolone
- Raffaella Violano
- Pascale Marcorelles
- Denis Maréchal
- Florence Renaud
- Claude-Alain Maurage
- Céline Tard
- Jean-Marie Cuisset
- Jocelyn Laporte
- Johann Böhm
Human Mutation ; Volume: 41 ; Page: 17-37
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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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rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy
- Jacob Ross
- Hichem Tasfaout
- Yotam Levy
- Jennifer Morgan
- Belinda Cowling
- Jocelyn Laporte
- Edmar Zanoteli
- Norma Romero
- Dawn Lowe
- Heinz Jungbluth
- Michael Lawlor
- David Mack
- Julien Ochala
Acta Neuropathologica Communications ; Volume: 8 ; Page: 167
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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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