Schreckenbach, T., Schroder, J. M., Voit, T., Abicht, A., Neuen-Jacob, E., Roos, A., Bulst, S., Kuhl, C., Schulz, J. B., Weis, J., Claeys, K. G. :
Novel TPM3 mutation in a family with cap myopathy and review of the literature
Neuromuscul Disord, 2014 ; 24 (2) : 117-24
Publications (1184)
Bohm, J., Chevessier, F., Koch, C., Peche, G. A., Mora, M., Morandi, L., Pasanisi, B., Moroni, I., Tasca, G., Fattori, F., Ricci, E., Penisson-Besnier, I., Nadaj-Pakleza, A., Fardeau, M., Joshi, P. R., Deschauer, M., Romero, N. B., Eymard, B., Laporte, J. :
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 J Med Genet, 2014 ; 51 (12) : 824-33
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 J Med Genet, 2014 ; 51 (12) : 824-33
Ferry, A., Schuh, M., Parlakian, A., Mgrditchian, T., Valnaud, N., Joanne, P., Butler-Browne, G., Agbulut, O., Metzger, D. :
Myofiber androgen receptor promotes maximal mechanical overload-induced muscle hypertrophy and fiber type transition in male mice Endocrinology, 2014 ; 155 (12) : 4739-48
Myofiber androgen receptor promotes maximal mechanical overload-induced muscle hypertrophy and fiber type transition in male mice Endocrinology, 2014 ; 155 (12) : 4739-48
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) :
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases Eur J Hum Genet, 2014 ; (SP) :
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
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
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
Bucci, L., Yani, S. L., Fabbri, C., Bijlsma, A. Y., Maier, A. B., Meskers, C. G., Narici, M. V., Jones, D. A., McPhee, J. S., Seppet, E., Gapeyeva, H., Paasuke, M., Sipila, S., Kovanen, V., Stenroth, L., Musaro, A., Hogrel, J. Y., Barnouin, Y., Butler-Browne, G., Capri, M., Franceschi, C., Salvioli, S. :
Circulating levels of adipokines and IGF-1 are associated with skeletal muscle strength of young and old healthy subjects Biogerontology, 2013 ; 4 (3) : 261-272
Circulating levels of adipokines and IGF-1 are associated with skeletal muscle strength of young and old healthy subjects Biogerontology, 2013 ; 4 (3) : 261-272
