 |
Journal articles
Core-rod myopathy caused by mutations in the nebulin gene.
Norma Romero
1, 2, *
V.-L. Lehtokari
3
S. Quijano-Roy
4
Nicole Monnier
5
Kristl Claeys
1, 2
R. Y. Carlier
6
N. Pellegrini
7
D. Orlikowski
7
A. Barois
4
N. G. Laing
8
Joël Lunardi
5
Michel Fardeau
1, 2
K. Pelin
9
C. Wallgren-Pettersson
3
*
Corresponding author
Norma B. Romero 1, 2
Correspondent author
V.-L. Lehtokari 3
Author
S. Quijano-Roy 4
Author
Nicole Monnier 5
Author
K. Pelin 9
Author
C. Wallgren-Pettersson 3
Author
1
Thérapie des maladies du muscle strié (105 Bd de L'Hôpital 75013 Paris - France)
- CNRS - Centre National de la Recherche Scientifique : UMR7215 (France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U974 (101, rue de Tolbiac, 75013 Paris - France)
- UPMC - Université Pierre et Marie Curie - Paris 6 (4 place Jussieu - 75005 Paris - France)
2
Centre de référence des maladies rares neuromusculaires (France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- CHU Pitié-Salpêtrière [AP-HP] (47-83 Boulevard de l'Hôpital, 75013 Paris - France)
- Sorbonne Université (France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
3
Department of Medical and Clinical Genetics [Helsinki] (Finland)
- Haartman Institute [Helsinki] (Haartmaninkatu 3 (P.O. Box 21)
FIN-00014. Helsinki, Finlande. - Finland)
- Faculty of Medecine [Helsinki] (P.O.Box 63
00014 Helsinki - Finland)
- University of Helsinki (Yliopistonkatu 4, 00100 Helsinki - Finland)
- Faculty of Medecine [Helsinki] (P.O.Box 63
00014 Helsinki - Finland)
4
Service de Pédiatrie (France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Hôpital Raymond Poincaré [AP-HP] (104 Boulevard Raymond Poincaré, 92380 Garches - France)
6
Service de Radiologie et imagerie médicale (Garches - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Hôpital Raymond Poincaré [AP-HP] (104 Boulevard Raymond Poincaré, 92380 Garches - France)
7
Service de Réanimation Adultes (Garches - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Hôpital Raymond Poincaré [AP-HP] (104 Boulevard Raymond Poincaré, 92380 Garches - France)
8
Center for Medical Research (University of Western Australia - Perth - Australia)
- UWA - The University of Western Australia (35 Stirling Highway Perth WA 6009 Australia - Australia)
9
Faculty of Biological and Environmental Sciences [Helsinki] (P.O. Box 56 (Viikinkaari 5), FIN-00014
Helsinki - Finland)
- University of Helsinki (Yliopistonkatu 4, 00100 Helsinki - Finland)
Document type :
Journal articles
Complete list of metadata
https://www.hal.inserm.fr/inserm-00516339
Contributor : Nathalie Roux-Buisson <>
Submitted on : Thursday, September 9, 2010 - 12:00:28 PM
Last modification on : Thursday, December 10, 2020 - 3:42:27 AM
Long-term archiving on: : Thursday, December 1, 2016 - 9:33:47 PM
Contributor : Nathalie Roux-Buisson <>
Submitted on : Thursday, September 9, 2010 - 12:00:28 PM
Last modification on : Thursday, December 10, 2020 - 3:42:27 AM
Long-term archiving on: : Thursday, December 1, 2016 - 9:33:47 PM
File
Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamaisPlease log in to resquest access to the document
Identifiers
- HAL Id : inserm-00516339, version 1
- DOI : 10.1212/WNL.0b013e3181bacf45
- PUBMED : 19805734
Collections
INSERM | U836 | UPMC | U974 | CNRS | SORBONNE-UNIVERSITE | SU-MEDECINE | SU-TI
Citation
Norma Romero, V.-L. Lehtokari, S. Quijano-Roy, Nicole Monnier, Kristl Claeys, et al.. Core-rod myopathy caused by mutations in the nebulin gene.. Neurology, American Academy of Neurology, 2009, 73 (14), pp.1159-61. ⟨10.1212/WNL.0b013e3181bacf45⟩. ⟨inserm-00516339⟩
Metrics
Record views