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
Publications (1184)
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
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
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
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
Caruso, N., Herberth, B., Bartoli, M., Puppo, F., Dumonceaux, J., Zimmermann, A., Denadai, S., Lebosse, M., Roche, S., Geng, L., Magdinier, F., Attarian, S., Bernard, R., Maina, F., Levy, N., Helmbacher, F. :
Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy PLoS Genet, 2013 ; 9 (6) : e1003550
Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy PLoS Genet, 2013 ; 9 (6) : e1003550
