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 (1184)
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
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
Gueugneau, M., Coudy-Gandilhon, C., Gourbeyre, O., Chambon, C., Combaret, L., Polge, C., Taillandier, D., Attaix, D., Friguet, B., Maier, A. B., Butler-Browne, G., Bechet, D. :
Proteomics of muscle chronological ageing in post-menopausal women BMC Genomics, 2014 ; 15 (1) : 1165
Proteomics of muscle chronological ageing in post-menopausal women BMC Genomics, 2014 ; 15 (1) : 1165
Punga, T., Le Panse, R., Andersson, M., Truffault, F., Berrih-Aknin, S., Punga, A. R. :
Circulating miRNAs in myasthenia gravis: miR-150-5p as a new potential biomarker Ann Clin Transl Neurol, 2014 ; 1 (1) : 49-58
Circulating miRNAs in myasthenia gravis: miR-150-5p as a new potential biomarker Ann Clin Transl Neurol, 2014 ; 1 (1) : 49-58
Zalc, A., Hayashi, S., Aurade, F., Brohl, D., Chang, T., Mademtzoglou, D., Mourikis, P., Yao, Z., Cao, Y., Birchmeier, C., Relaix, F. :
Antagonistic regulation of p57kip2 by Hes/Hey downstream of Notch signaling and muscle regulatory factors regulates skeletal muscle growth arrest Development, 2014 ; 141 (14) : 2780-90
Antagonistic regulation of p57kip2 by Hes/Hey downstream of Notch signaling and muscle regulatory factors regulates skeletal muscle growth arrest Development, 2014 ; 141 (14) : 2780-90
Gargiulo, M., Herson, A., Angeard, N. :
Informing a child about genetic disorders: the need to know and understand Méd Ther Pédiatr, 2014 ; 17 (1) : 8-14
Informing a child about genetic disorders: the need to know and understand Méd Ther Pédiatr, 2014 ; 17 (1) : 8-14
Araujo, E. C., Fromes, Y., Carlier, P. G. :
New insights on human skeletal muscle tissue compartments revealed by in vivo t2 NMR relaxometry Biophys J, 2014 ; 106 (10) : 2267-74
New insights on human skeletal muscle tissue compartments revealed by in vivo t2 NMR relaxometry Biophys J, 2014 ; 106 (10) : 2267-74
Chuah, M. K., Petrus, I., De Bleser, P., Le Guiner, C., Gernoux, G., Adjali, O., Nair, N., Willems, J., Evens, H., Rincon, M. Y., Matrai, J., Di Matteo, M., Samara-Kuko, E., Yan, B., Acosta-Sanchez, A., Meliani, A., Cherel, G., Blouin, V., Christophe, O., Moullier, P., Mingozzi, F., Driessche, T. V. :
Liver-Specific Transcriptional Modules Identified by Genome-Wide in Silico Analysis Enable Efficient Gene Therapy in Mice and Non-Human Primates Mol Ther, 2014 ; 22(9):1605-13 (9) : 1605-13
Liver-Specific Transcriptional Modules Identified by Genome-Wide in Silico Analysis Enable Efficient Gene Therapy in Mice and Non-Human Primates Mol Ther, 2014 ; 22(9):1605-13 (9) : 1605-13
Lefevre, G., Meyer, A., Launay, D., Machelart, I., DeBandt, M., Michaud, J., Tournadre, A., Godmer, P., Kahn, J. E., Behra-Marsac, A., Timsit, M. A., Schleinitz, N., Wendling, D., Melac-Ducamp, S., Boyer, P., Peretz, A., Lequerre, T., Richez, C., Stervinou-Wemeau, L., Morell-Dubois, S., Lambert, M., Dubucquoi, S., Wallaert, B., Benveniste, O., Flipo, R. M., Hatron, P. Y., Sibilia, J., Hachulla, E., Hervier, B., on behalf of the Club Rhumatismes, Inflammation :
Seronegative polyarthritis revealing antisynthetase syndrome: a multicentre study of 40 patients Rheumatology (Oxford), 2014 ; :
Seronegative polyarthritis revealing antisynthetase syndrome: a multicentre study of 40 patients Rheumatology (Oxford), 2014 ; :
