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)
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) :
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
Bertrand, A. T., Bonnemann, C. G., Bonne, G. :
199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands Neuromuscul Disord, 2014 ; 24 (5) : 453-62
199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands Neuromuscul Disord, 2014 ; 24 (5) : 453-62
Eymard, B., Ferreiro, A., Ben Yaou, R., Stojkovic, T. :
Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy Rev Neurol (Paris), 2014 ; 169 (8-9) : 546-63
Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy Rev Neurol (Paris), 2014 ; 169 (8-9) : 546-63
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
Alves, S., Cormier-Dequaire, F., Marinello, M., Marais, T., Muriel, M. P., Beaumatin, F., Charbonnier-Beaupel, F., Tahiri, K., Seilhean, D., El Hachimi, K., Ruberg, M., Stevanin, G., Barkats, M., den Dunnen, W., Priault, M., Brice, A., Durr, A., Corvol, J. C., Sittler, A. :
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice Acta Neuropathol, 2014 ; 128 (5) : 705-22
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice Acta Neuropathol, 2014 ; 128 (5) : 705-22
