Publications (1184)

Casar-Borota, O., Jacobsson, J., Libelius, R., Oldfors, C. H., Malfatti, E., Romero, N. B., Oldfors, A. :
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres Neuromuscul Disord, 2015 ; 25 (4) : 345-348
Portilho, D. M., Alves, M. R., Kratassiouk, G., Roche, S., Magdinier, F., de Santana, E. C., Polesskaya, A., Harel-Bellan, A., Mouly, V., Savino, W., Butler-Browne, G., Dumonceaux, J. :
miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies PLoS ONE, 2015 ; 10 (2) : e0116853
Mingozzi, F., Buning, H. :
Adeno-Associated Viral Vectors at the Frontier between Tolerance and Immunity Front Immunol, 2015 ; 6 : 120
Wary, C., Azzabou, N., Giraudeau, C., Le Louer, J., Montus, M., Voit, T., Servais, L., Carlier, P. :
Quantitative NMRI and NMRS identify augmented disease progression after loss of ambulation in forearms of boys with Duchenne muscular dystrophy NMR Biomed, 2015 ; 28 (9) : 1150-62
Allamand, V. :
Genetique Med Sci (Paris), 2015 ; 31 Spec No 3 : 28-9
Hamel, Y., Mamoune, A., Mauvais, F. X., Habarou, F., Lallement, L., Romero, N. B., Ottolenghi, C., de Lonlay, P. :
Acute rhabdomyolysis and inflammation J Inherit Metab Dis, 2015 ; 38 (4) : 621-628
Tuzun, E., Berrih-Aknin, S., Brenner, T., Kusner, L. L., Le Panse, R., Yang, H., Tzartos, S., Christadoss, P. :
Guidelines for standard preclinical experiments in the mouse model of myasthenia gravis induced by acetylcholine receptor immunization Exp Neurol, 2015 ; 270 : 11-17
de la Vaissiere, S., Toutain, A., Chene, M. A., Lagrue, E., Cantagrel, S., Provost, S., Eymard, B., Castelnau, P. :
Syndromes myastheniques congenitaux de l’enfant : strategies therapeutiques medicamenteuses Arch Pediatr, 2015 ; 22 (7) : 724-8
Wirth, B., Barkats, M., Martinat, C., Sendtner, M., Gillingwater, T. H. :
Moving towards treatments for spinal muscular atrophy: hopes and limits Expert Opin Emerg Drugs, 2015 ; 20 (3) : 353-6
Mercier, S., Kury, S., Salort-Campana, E., Magot, A., Agbim, U., Besnard, T., Bodak, N., Bou-Hanna, C., Breheret, F., Brunelle, P., Caillon, F., Chabrol, B., Cormier-Daire, V., David, A., Eymard, B., Faivre, L., Figarella-Branger, D., Fleurence, E., Ganapathi, M., Gherardi, R., Goldenberg, A., Hamel, A., Igual, J., Irvine, A. D., Israel-Biet, D., Kannengiesser, C., Laboisse, C., Le Caignec, C., Mahe, J. Y., Mallet, S., MacGowan, S., McAleer, M. A., McLean, I., Meni, C., Munnich, A., Mussini, J. M., Nagy, P. L., Odel, J., O'Regan, G. M., Pereon, Y., Perrier, J., Piard, J., Puzenat, E., Sampson, J. B., Smith, F., Soufir, N., Tanji, K., Thauvin, C., Ulane, C., Watson, R. M., Khumalo, N. P., Mayosi, B. M., Barbarot, S., Bezieau, S. :
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations Orphanet J Rare Dis, 2015 ; 10 : 135