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
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
Allenbach, Y., Benveniste, O. :
Les myopathies nécrosantes acquises. Rev Med Interne, 2013 ; 34 (6) : 363-368
Les myopathies nécrosantes acquises. Rev Med Interne, 2013 ; 34 (6) : 363-368