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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2014
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Article in a journal
Hereditary myopathy with early respiratory failure: occurrence in various populations
- Johanna Palmio
- Anni Evilä
- Françoise Chapon
- Giorgio Tasca
- Fengqing Xiang
- Björn Brådvik
- Bruno Eymard
- Andoni Echaniz‐laguna
- Jocelyn Laporte
- Mikko Kärppä
- Ibrahim Mahjneh
- Rosaline Quinlivan
- Pascal Laforet
- Maxwell Damian
- Andrés Berardo
- Ana Lía Taratuto
- José Antonio Bueri
- Johanna Tommiska
- Taneli Raivio
- Matthias Tuerk
- ...
Journal of Neurology, Neurosurgery and Psychiatry ; Volume: 85 ; Page: 345--353
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Article in a journal
Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies
- Vilma-Lotta Lehtokari
- Kirsi Kiiski
- Sarah A. Sandaradura
- Jocelyn Laporte
- Pauliina Repo
- Jennifer A. Frey
- Kati Donner
- Minttu Marttila
- Carol Saunders
- Peter G. Barth
- Johan T. den Dunnen
- Alan H. Beggs
- Nigel F. Clarke
- Kathryn N. North
- Nigel G. Laing
- Norma B. Romero
- Thomas L. Winder
- Katarina Pelin
- Carina Wallgren-Pettersson
Human Mutation ; Volume: 35 ; Page: 1418--1426
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Article in a journal
Decreasing dynamin 2 to rescue myotubular myopathy, Diminuer l’expression de la dynamine 2
- Jocelyn Laporte
- Belinda S Cowling
Médecine/Sciences ; Volume: 30 ; Page: 621--624
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2013
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Chapter of the book
Correlative light and electron microscopy: from live cell dynamic to 3D ultrastructure
- Coralie Spiegelhalter
- Jocelyn F. Laporte
- Yannick Schwab
Methods in Molecular Biology ; Volume: 1117 ; Page: 485-501
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Article in a journal
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene
- Edoardo Malfatti
- Ursula Schaeffer
- Françoise Chapon
- Yage Yang
- Bruno Eymard
- Ran Xu
- Jocelyn Laporte
- Norma Beatriz Romero
Neuromuscular Disorders ; Volume: 23 ; Page: 992-997
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Article in a journal
Recessive truncating titin gene, TTN , mutations presenting as centronuclear myopathy
- Ozge Ceyhan-Birsoy
- Pankaj Agrawal
- Carlos Hidalgo
- Klaus Schmitz-Abe
- Elizabeth Dechene
- Lindsay Swanson
- Rachel Soemedi
- Nasim Vasli
- Susan Iannaccone
- Perry Shieh
- Natasha Shur
- Jane Dennison
- Michael Lawlor
- Jocelyn Laporte
- Kyriacos Markianos
- William Fairbrother
- Henk Granzier
- Alan Beggs
Neurology ; Volume: 81 ; Page: 1205-1214
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Article in a journal
The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies
- Barbara Royer
- Karim Hnia
- Christos Gavriilidis
- Helene Tronchere
- Valérie Tosch
- Jocelyn Laporte
EMBO Reports ; Volume: 14 ; Page: 907-915
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Article in a journal
Adult centronuclear myopathies: A hospital-based study, Les myopathies centronucléaires de l’adulte : une étude monocentrique rétrospective
- Andoni Echaniz‐laguna
- Valerie Biancalana
- Johann Böhm
- Christine Tranchant
- Jean-Louis Mandel
- Jocelyn Laporte
Revue Neurologique ; Volume: 169 ; Page: 625-631
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Article in a journal
Extensive morphological and immunohistochemical characterization in myotubular myopathy
- Minobu Shichiji
- Valerie Biancalana
- Michel Fardeau
- Jean‐yves Hogrel
- Makiko Osawa
- Jocelyn Laporte
- Norma Beatriz Romero
Brain and Behavior ; Volume: 3 ; Page: 476-486
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Article in a journal
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways
- Lama Al-Qusairi
- Ivana Prokic
- Leonela Amoasii
- Christine Kretz
- Nadia Messaddeq
- Jean-Louis Mandel
- Jocelyn Laporte
FASEB Journal ; Volume: 27 ; Page: 3384-3394
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