Ben Ammar, A., Soltanzadeh, P., Bauche, S., Richard, P., Goillot, E., Herbst, R., Gaudon, K., Huze, C., Schaeffer, L., Yamanashi, Y., Higuchi, O., Taly, A., Koenig, J., Leroy, J. P., Hentati, F., Najmabadi, H., Kahrizi, K., Ilkhani, M., Fardeau, M., Eymard, B., Hantai, D. :
A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia + Correction (PlosOne 2013 8(9))
PLoS ONE, 2013 ; 8 (1) : e53826
Publications (1181)
Schoindre, Y., Benveniste, O., Costedoat-Chalumeau, N. :
Vitamine D et auto-immunite Presse Med, 2013 ; 42 (10) : 1358-63
Vitamine D et auto-immunite Presse Med, 2013 ; 42 (10) : 1358-63
Gayan-Ramirez, G. :
Ventilator-induced diaphragm dysfunction: time for (contr)action ! Eur Respir J, 2013 ; 42 (1) : 12-15
Ventilator-induced diaphragm dysfunction: time for (contr)action ! Eur Respir J, 2013 ; 42 (1) : 12-15
Penisson-Besnier, I., Allamand, V., Beurrier, P., Martin, L., Schalkwijk, J., van Vlijmen-Willems, I., Gartioux, C., Malfait, F., Syx, D., Macchi, L., Marcorelles, P., Arbeille, B., Croue, A., De Paepe, A., Dubas, F. :
Compound heterozygous mutations of the TNXB gene cause primary myopathy Neuromuscul Disord, 2013 ; 23 (8) : 664-9
Compound heterozygous mutations of the TNXB gene cause primary myopathy Neuromuscul Disord, 2013 ; 23 (8) : 664-9
Hervier, B., Meyer, A., Dieval, C., Uzunhan, Y., Devilliers, H., Launay, D., Canuet, M., Tetu, L., Agard, C., Sibilia, J., Hamidou, M., Amoura, Z., Nunes, H., Benveniste, O., Grenier, P., Montani, D., Hachulla, E. :
Pulmonary hypertension in antisynthetase syndrome: prevalence, etiology and survival Eur Respir J, 2013 ; 42 (5) : 1271-82
Pulmonary hypertension in antisynthetase syndrome: prevalence, etiology and survival Eur Respir J, 2013 ; 42 (5) : 1271-82
Romero, N. B., Mezmezian, M., Fidzianska, A. :
Main steps of skeletal muscle development in the human: morphological analysis and ultrastructural characteristics of developing human muscle Handb Clin Neurol, 2013 ; 113 : 1299-310
Main steps of skeletal muscle development in the human: morphological analysis and ultrastructural characteristics of developing human muscle Handb Clin Neurol, 2013 ; 113 : 1299-310
Malfatti, E., Olive, M., Taratuto, A. L., Richard, P., Brochier, G., Bitoun, M., Gueneau, L., Laforet, P., Stojkovic, T., Maisonobe, T., Monges, S., Lubieniecki, F., Vasquez, G., Streichenberger, N., Lacene, E., Saccoliti, M., Prudhon, B., Alexianu, M., Figarella-Branger, D., Schessl, J., Bonnemann, C., Eymard, B., Fardeau, M., Bonne, G., Romero, N. B. :
Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders J Neuropathol Exp Neurol, 2013 ; 72 (9) : 833-845
Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders J Neuropathol Exp Neurol, 2013 ; 72 (9) : 833-845
Nilsson, J., Schoser, B., Laforet, P., Kalev, O., Lindberg, C., Romero, N. B., Lopez, M. D., Akman, H. O., Wahbi, K., Iglseder, S., Eggers, C., Engel, A. G., Dimauro, S., Oldfors, A. :
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 Ann Neurol, 2013 ; 74 (6) : 914-9
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 Ann Neurol, 2013 ; 74 (6) : 914-9
Friedrich, F. W., Dilanian, G., Khattar, P., Juhr, D., Gueneau, L., Charron, P., Fressart, V., Vilquin, J. T., Isnard, R., Gouya, L., Richard, P., Hammoudi, N., Komajda, M., Bonne, G., Eschenhagen, T., Dubourg, O., Villard, E., Carrier, L. :
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity Eur J Heart Fail, 2013 ; 15 (3) : 267-76
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity Eur J Heart Fail, 2013 ; 15 (3) : 267-76
Vignier, N., Amor, F., Fogel, P., Duvallet, A., Poupiot, J., Charrier, S., Arock, M., Montus, M., Nelson, I., Richard, I., Carrier, L., Servais, L., Voit, T., Bonne, G., Israeli, D. :
Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies PLoS ONE, 2013 ; 8 (2) : e55281
Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies PLoS ONE, 2013 ; 8 (2) : e55281
