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
Allenbach, Y., Drouot, L., Rigolet, A., Charuel, J. L., Jouen, F., Romero, N. B., Maisonobe, T., Dubourg, O., Behin, A., Laforet, P., Stojkovic, T., Eymard, B., Costedoat-Chalumeau, N., Campana-Salort, E., Tournadre, A., Musset, L., Bader-Meunier, B., Kone-Paut, I., Sibilia, J., Servais, L., Fain, O., Larroche, C., Diot, E., Terrier, B., De Paz, R., Dossier, A., Menard, D., Morati, C., Roux, M., Ferrer, X., Martinet, J., Besnard, S., Bellance, R., Cacoub, P., Arnaud, L., Grosbois, B., Herson, S., Boyer, O., Benveniste, O. :
Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies: Inconstant Exposure to Statin Medicine (Baltimore), 2014 ; 93 (3) : 150-7
Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies: Inconstant Exposure to Statin Medicine (Baltimore), 2014 ; 93 (3) : 150-7
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
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
