Nilsson, J., Schoser, B., Laforet, P., Kalev, O., Lindberg, C., Romero, N. B., Lopez, M. D., Akman, H. O., Wahbi, K., Iglseder, S., Eggers, C., Engel, A. G., Dimauro, S., Oldfors, A. :
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
Ann Neurol, 2013 ; 74 (6) : 914-9
Publications (1181)
Friedrich, F. W., Dilanian, G., Khattar, P., Juhr, D., Gueneau, L., Charron, P., Fressart, V., Vilquin, J. T., Isnard, R., Gouya, L., Richard, P., Hammoudi, N., Komajda, M., Bonne, G., Eschenhagen, T., Dubourg, O., Villard, E., Carrier, L. :
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity Eur J Heart Fail, 2013 ; 15 (3) : 267-76
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity Eur J Heart Fail, 2013 ; 15 (3) : 267-76
Benkhelifa-Ziyyat, S., Besse, A., Roda, M., Duque, S., Astord, S., Carcenac, R., Marais, T., Barkats, M. :
Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice Mol Ther, 2013 ; 21 (2) : 282-90
Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice Mol Ther, 2013 ; 21 (2) : 282-90
Denard, J., Marolleau, B., Jenny, C., Rao, T. N., Fehling, H. J., Voit, T., Svinartchouk, F. :
C-reactive protein (CRP) is essential for efficient systemic transduction of recombinant adeno-associated virus vector 1 (rAAV-1) and rAAV-6 in mice J Virol, 2013 ; 87 (19) : 10784-91
C-reactive protein (CRP) is essential for efficient systemic transduction of recombinant adeno-associated virus vector 1 (rAAV-1) and rAAV-6 in mice J Virol, 2013 ; 87 (19) : 10784-91
Le Panse, R., Berrih-Aknin, S. :
Autoimmune myasthenia gravis: autoantibody mechanisms and new developments on immune regulation Curr Opin Neurol, 2013 ; 26 (5) : 569-76
Autoimmune myasthenia gravis: autoantibody mechanisms and new developments on immune regulation Curr Opin Neurol, 2013 ; 26 (5) : 569-76
Caruso, N., Herberth, B., Bartoli, M., Puppo, F., Dumonceaux, J., Zimmermann, A., Denadai, S., Lebosse, M., Roche, S., Geng, L., Magdinier, F., Attarian, S., Bernard, R., Maina, F., Levy, N., Helmbacher, F. :
Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy PLoS Genet, 2013 ; 9 (6) : e1003550
Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy PLoS Genet, 2013 ; 9 (6) : e1003550
Nebel, M., Schwoerer, A. P., Warszta, D., Siebrands, C. C., Limbrock, A. C., Swarbrick, J. M., Fliegert, R., Weber, K., Bruhn, S., Hohenegger, M., Geisler, A., Herich, L., Schlegel, S., Carrier, L., Eschenhagen, T., Potter, B. V., Ehmke, H., Guse, A. H. :
NAADP mediated calcium signalling and arrhythmias in the heart evoked by beta-adrenergic stimulation J Biol Chem, 2013 ; 288 (22) : 16017-16030
NAADP mediated calcium signalling and arrhythmias in the heart evoked by beta-adrenergic stimulation J Biol Chem, 2013 ; 288 (22) : 16017-16030
Hourde, C., Joanne, P., Medja, F., Mougenot, N., Jacquet, A., Mouisel, E., Pannerec, A., Hatem, S., Butler-Browne, G., Agbulut, O., Ferry, A. :
Voluntary Physical Activity Protects from Susceptibility to Skeletal Muscle Contraction-Induced Injury But Worsens Heart Function in mdx Mice Am J Pathol, 2013 ; 182 (5) : 1509-1518
Voluntary Physical Activity Protects from Susceptibility to Skeletal Muscle Contraction-Induced Injury But Worsens Heart Function in mdx Mice Am J Pathol, 2013 ; 182 (5) : 1509-1518
Willis, T. A., Hollingsworth, K. G., Coombs, A., Sveen, M. L., Andersen, S., Stojkovic, T., Eagle, M., Mayhew, A., de Sousa, P. L., Dewar, L., Morrow, J. M., Sinclair, C. D., Thornton, J. S., Bushby, K., Lochmuller, H., Hanna, M. G., Hogrel, J. Y., Carlier, P. G., Vissing, J., Straub, V. :
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study PLoS ONE, 2013 ; 8 (8) : e70993
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study PLoS ONE, 2013 ; 8 (8) : e70993
Popplewell, L., Koo, T., Leclerc, X., Duclert, A., Mamchaoui, K., Gouble, A., Mouly, V., Voit, T., Paques, F., Cedrone, F., Isman, O., Yanez-Munoz, R. J., Dickson, G. :
Gene correction of a duchenne muscular dystrophy mutation by meganuclease-enhanced exon knock-in Hum Gene Ther, 2013 ; 24 (7) : 692-701
Gene correction of a duchenne muscular dystrophy mutation by meganuclease-enhanced exon knock-in Hum Gene Ther, 2013 ; 24 (7) : 692-701
