Vrolix, K., Fraussen, J., Losen, M., Stevens, J., Lazaridis, K., Molenaar, P. C., Somers, V., Bracho, M. A., Le Panse, R., Stinissen, P., Berrih-Aknin, S., Maessen, J. G., Van Garsse, L., Buurman, W. A., Tzartos, S. J., De Baets, M. H., Martinez-Martinez, P. :
Clonal heterogeneity of thymic B cells from early-onset myasthenia gravis patients with antibodies against the acetylcholine receptor
J Autoimmun, 2014 ; 52 : 101-112
Publications (1184)
Allenbach, Y., Chaara, W., Rosenzwajg, M., Six, A., Prevel, N., Mingozzi, F., Wanschitz, J., Musset, L., Charuel, J. L., Eymard, B., Salomon, B., Duyckaerts, C., Maisonobe, T., Dubourg, O., Herson, S., Klatzmann, D., Benveniste, O. :
Th1 response and systemic treg deficiency in inclusion body myositis PLoS ONE, 2014 ; 9 (3) : e88788
Th1 response and systemic treg deficiency in inclusion body myositis PLoS ONE, 2014 ; 9 (3) : e88788
Bushby, K., Finkel, R., Wong, B., Barohn, R., Campbell, C., Comi, G. P., Connolly, A. M., Day, J. W., Flanigan, K. M., Goemans, N., Jones, K. J., Mercuri, E., Quinlivan, R., Renfroe, J. B., Russman, B., Ryan, M. M., Tulinius, M., Voit, T., Moore, S. A., Sweeney, H. L., Abresch, R. T., Coleman, K. L., Eagle, M., Florence, J., Gappmaier, E., Glanzman, A. M., Henricson, E., Barth, J., Elfring, G. L., Reha, A., Spiegel, R. J., O'Donnell, M. W., Peltz, S. W., McDonald, C. M., Ptc Gd-Dmd Study Group :
Ataluren treatment of patients with nonsense mutation dystrophinopathy Muscle Nerve, 2014 ; 50(4):477-87 (4) : 477-87
Ataluren treatment of patients with nonsense mutation dystrophinopathy Muscle Nerve, 2014 ; 50(4):477-87 (4) : 477-87
Gargiulo, M., Herson, A., Angeard, N. :
Annoncer une maladie génétique à l’enfant. Désir de savoir, besoin de comprendre Enfances et Psy, 2014 ; 64 (3) : 77-88
Annoncer une maladie génétique à l’enfant. Désir de savoir, besoin de comprendre Enfances et Psy, 2014 ; 64 (3) : 77-88
Klinck, R., Fourrier, A., Thibault, P., Toutant, J., Durand, M., Lapointe, E., Caillet-Boudin, M. L., Sergeant, N., Gourdon, G., Meola, G., Furling, D., Puymirat, J., Chabot, B. :
RBFOX1 Cooperates with MBNL1 to Control Splicing in Muscle, Including Events Altered in Myotonic Dystrophy Type 1 PLoS ONE, 2014 ; 9 (9) : e107324
RBFOX1 Cooperates with MBNL1 to Control Splicing in Muscle, Including Events Altered in Myotonic Dystrophy Type 1 PLoS ONE, 2014 ; 9 (9) : e107324
Renouil, M., Stojkovic, T., Jacquemont, M. L., Lauret, K., Boue, P., Fourmaintraux, A., Randrianaivo, H., Tallot, M., Mignard, D., Roelens, P., Tabailloux, D., Bernard, R., Cartault, F., Chane-Thien, E., Dubourg, O., Ferrer, X., Sole, G., Fournier, E., Latour, P., Lacour, A., Mignard, C. :
Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients. Rev Neurol (Paris), 2014 ; 169 (8-9) : 603-12
Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients. Rev Neurol (Paris), 2014 ; 169 (8-9) : 603-12
Barthelemy, I., Pinto-Mariz, F., Yada, E., Desquilbet, L., Savino, W., Silva-Barbosa, S. D., Faussat, A. M., Mouly, V., Voit, T., Blot, S., Butler-Browne, G. :
Predictive markers of clinical outcome in the GRMD dog model of Duchenne Muscular Dystrophy Dis Model Mech, 2014 ; 7 (11) : 1253-61
Predictive markers of clinical outcome in the GRMD dog model of Duchenne Muscular Dystrophy Dis Model Mech, 2014 ; 7 (11) : 1253-61
Deconinck, N., Richard, P., Allamand, V., Behin, A., Laforet, P., Ferreiro, A., de Becdelievre, A., Ledeuil, C., Gartioux, C., Nelson, I., Carlier, R. Y., Carlier, P., Wahbi, K., Romero, N., Zabot, M. T., Bouhour, F., Tiffreau, V., Lacour, A., Eymard, B., Stojkovic, T. :
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution J Neurol Neurosurg Psychiatry, 2014 ; (SP) :
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution J Neurol Neurosurg Psychiatry, 2014 ; (SP) :
Marttila, M., Lehtokari, V. L., Marston, S., Nyman, T. A., Barnerias, C., Beggs, A. H., Bertini, E., Ceyhan-Birsoy, O., Cintas, P., Gerard, M., Gilbert-Dussardier, B., Hogue, J. S., Longman, C., Eymard, B., Frydman, M., Kang, P. B., Klinge, L., Kolski, H., Lochmuller, H., Magy, L., Manel, V., Mayer, M., Mercuri, E., North, K. N., Peudenier-Robert, S., Pihko, H., Probst, F. J., Reisin, R., Stewart, W., Taratuto, A. L., de Visser, M., Wilichowski, E., Winer, J., Nowak, K., Laing, N. G., Winder, T. L., Monnier, N., Clarke, N. F., Pelin, K., Gronholm, M., Wallgren-Pettersson, C. :
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies Hum Mutat, 2014 ; 35 (7) : 779-790
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies Hum Mutat, 2014 ; 35 (7) : 779-790
Stoehr, A., Neuber, C., Baldauf, C., Vollert, I., Friedrich, F. W., Flenner, F., Carrier, L., Eder, A., Schaaf, S., Hirt, M. N., Aksehirlioglu, B., Tong, C. W., Moretti, A., Eschenhagen, T., Hansen, A. :
Automated analysis of contractile force and Ca2+ transients in engineered heart tissue Am J Physiol Heart Circ Physiol, 2014 ; 306 (9) : H1353-63
Automated analysis of contractile force and Ca2+ transients in engineered heart tissue Am J Physiol Heart Circ Physiol, 2014 ; 306 (9) : H1353-63
