Publications (1184)

Treves, S., Vukcevic, M., Jeannet, P. Y., Levano, S., Girard, T., Urwyler, A., Fischer, D., Voit, T., Jungbluth, H., Lillis, S., Muntoni, F., Quinlivan, R., Sarkozy, A., Bushby, K., Zorzato, F. :
Enhanced excitation coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with Central core disease Hum Mol Genet, 2011 ; 20 (3) : 589-600
Angeard, N., Babonneau, M. L., Frischmann, M., Gallais, B., Gargiulo, M., Herson, A., Michon, C. C., Réveillère, C. :
Evolution des connaissances psychologiques, neuropsychologiques et des pratiques cliniques Journal de réadaptation médicale, 2011 ; 31 (3) : 178-185
Bertrand, A, Chikhaoui, K, Benyaou, R., Bonne, G. :
Clinical and genetic heterogeneity in laminopathies Biochem Soc Trans, 2011 ; 39 (6) : 1687-92
Hernandez-Lain, A., Husson, I., Monnier, N., Farnoux, C., Brochier, G., Lacene, E., Beuvin, M., Viou, M. T., Manere, L., Claeys, K. G., Fardeau, M., Lunardi, J., Voit, T., Romero, N. B. :
De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins Eur J Med Genet, 2011 ; 54 (1) : 29-33
Meyer-Schwesinger, C., Meyer, T. N., Sievert, H., Hoxha, E., Sachs, M., Klupp, E. M., Munster, S., Balabanov, S., Carrier, L., Helmchen, U., Thaiss, F., Stahl, R. A. :
Ubiquitin C-terminal hydrolase-l1 activity induces polyubiquitin accumulation in podocytes and increases proteinuria in rat membranous nephropathy Am J Pathol, 2011 ; 178 (5) : 2044-57
Cavalcante, P., Maggi, L., Colleoni, L., Caldara, R., Motta, T., Giardina, C., Antozzi, C., Berrih-Aknin, S., Bernasconi, P., Mantegazza, R. :
Inflammation and epstein-barr virus infection are common features of myasthenia gravis thymus: possible roles in pathogenesis Autoimmune Dis, 2011 ; (SP) :
Koutsoulidou, A., Mastroyiannopoulos, N. P., Furling, D., Uney, J. B., Phylactou, L. A. :
Expression of miR-1, miR-133a, miR-133b and miR-206 increases during development of human skeletal muscle BMC Dev Biol, 2011 ; 11 : 34
Romero, N. B., Bevilacqua, J. A., Oldfors, A., Fardeau, M. :
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation Neuromuscul Disord, 2011 ; 21 (2) : 148-9
Baligand, C., Wary, C., Menard, J. C., Giacomini, E., Hogrel, J. Y., Carlier, P. G. :
Measuring perfusion and bioenergetics simultaneously in mouse skeletal muscle: a multiparametric functional-NMR approach NMR Biomed, 2011 ; 24 (3) : 281-90
Ferreiro, A., Mezmezian, M., Olive, M., Herlicoviez, D., Fardeau, M., Richard, P., Romero, N. B. :
Telethonin-deficiency initially presenting as a congenital muscular dystrophy Neuromuscul Disord, 2011 ; 21 (6) : 433-8