Mora, M., Angelini, C., Bignami, F., Bodin, A., Crimi, M., Di Donato, J., Felice, A., Jaeger, C., Karcagi, V., LeCam, Y., Lynn, S., Meznaric, M., Moggio, M., Monaco, L., Politano, L., de la Paz, M. P., Saker, S., Schneiderat, P., Ensini, M., Garavaglia, B., Gurwitz, D., Johnson, D., Muntoni, F., Puymirat, J., Reza, M., Voit, T., Baldo, C., Bricarelli, F. D., Goldwurm, S., Merla, G., Pegoraro, E., Renieri, A., Zatloukal, K., Filocamo, M., Lochmuller, H. :
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
Eur J Hum Genet, 2014 ; (SP) :
Publications (1181)
Theron, L., Gueugneau, M., Coudy, C., Viala, D., Bijlsma, A., Butler-Browne, G., Maier, A., Bechet, D., Chambon, C. :
Label-free quantitative protein profiling of vastus lateralis muscle during human aging Mol Cell Proteomics, 2014 ; 13 (1) : 283-94
Label-free quantitative protein profiling of vastus lateralis muscle during human aging Mol Cell Proteomics, 2014 ; 13 (1) : 283-94
Kuster, D. W., Sequeira, V., Najafi, A., Boontje, N., J. M. Wijnker P, Witjas-Paalberends, R., Marston, S., Dos Remedios, C. G., Carrier, L., Demmers, J. A., Redwood, C. S., Sadayappan, S., van der Velden, J. :
GSK3beta Phosphorylates Newly Identified Site in the Pro-Ala Rich Region of Cardiac Myosin Binding Protein C and Alters Cross-Bridge Cycling Kinetics in Human Circ Res, 2013 ; 112 (4) : 633-639
GSK3beta Phosphorylates Newly Identified Site in the Pro-Ala Rich Region of Cardiac Myosin Binding Protein C and Alters Cross-Bridge Cycling Kinetics in Human Circ Res, 2013 ; 112 (4) : 633-639
Polesskaya, A., Degerny, C., Pinna, G., Maury, Y., Kratassiouk, G., Mouly, V., Morozova, N., Kropp, J., Frandsen, N., Harel-Bellan, A. :
Genome-Wide Exploration of miRNA Function in Mammalian Muscle Cell Differentiation PLoS ONE, 2013 ; 8 (8) : e71927
Genome-Wide Exploration of miRNA Function in Mammalian Muscle Cell Differentiation PLoS ONE, 2013 ; 8 (8) : e71927
Hervier, B., Benveniste, O. :
Clinical heterogeneity and outcomes of antisynthetase syndrome Curr Rheumatol Rep, 2013 ; 15 (8) : 349
Clinical heterogeneity and outcomes of antisynthetase syndrome Curr Rheumatol Rep, 2013 ; 15 (8) : 349
McPhee, J. S., Hogrel, J. Y., Maier, A. B., Seppet, E., Seynnes, O. R., Sipila, S., Bottinelli, R., Barnouin, Y., Bijlsma, A. Y., Gapeyeva, H., Maden-Wilkinson, T. M., Meskers, C. G., Paasuke, M., Sillanpaa, E., Stenroth, L., Butler-Browne, G., Narici, M. V., Jones, D. A. :
Physiological and functional evaluation of healthy young and older men and women: design of the European MyoAge study Biogerontology, 2013 ; 4 (3) : 325-337
Physiological and functional evaluation of healthy young and older men and women: design of the European MyoAge study Biogerontology, 2013 ; 4 (3) : 325-337
Weiss, J M, Cufi, P, Bismuth, J, Eymard, B, Fadel, E, Berrih-Aknin, S, Le Panse, R. :
SDF-1/CXCL12 recruits B cells and antigen-presenting cells to the thymus of autoimmune myasthenia gravis patients Immunobiology, 2013 ; 218 (3) : 373-381
SDF-1/CXCL12 recruits B cells and antigen-presenting cells to the thymus of autoimmune myasthenia gravis patients Immunobiology, 2013 ; 218 (3) : 373-381
Bonne, G., Quijano-Roy, S. :
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies Handb Clin Neurol, 2013 ; 113 : 1367-76
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies Handb Clin Neurol, 2013 ; 113 : 1367-76
Simon, D., Alberti, C., Alison, M., Le Henaff, L., Chevenne, D., Boizeau, P., Canal, A., Ollivier, G., Decostre, V., Jacqz-Aigrain, E., Carel, J. C., Czernichow, P., Hogrel, J. Y. :
Effects of recombinant human growth hormone for 1 year on body composition and muscle strength in children on long-term steroid therapy: randomized controlled, delayed-start study J Clin Endocrinol Metab, 2013 ; 98 (7) : 2746-54
Effects of recombinant human growth hormone for 1 year on body composition and muscle strength in children on long-term steroid therapy: randomized controlled, delayed-start study J Clin Endocrinol Metab, 2013 ; 98 (7) : 2746-54
Rendu, J, Brocard, J, Denarier, E, Monnier, N, Piétri-Rouxel, F, Beley, C, Roux-Buisson, N, Gilbert-Dussardier, B, Perez, M J, Romero, N, Garcia, L, Lunardi, J, Fauré, J, Fourest-Lieuvin, A, Marty, I. :
Exon skipping as a therapeutic strategy applied to a RyR1 mutation with pseudo-exon inclusion causing a severe core myopathy Hum Gene Ther, 2013 ; 24 (7) : 702-13
Exon skipping as a therapeutic strategy applied to a RyR1 mutation with pseudo-exon inclusion causing a severe core myopathy Hum Gene Ther, 2013 ; 24 (7) : 702-13