Willer, T., Lee, H., Lommel, M., Yoshida-Moriguchi, T., de Bernabe, D. B., Venzke, D., Cirak, S., Schachter, H., Vajsar, J., Voit, T., Muntoni, F., Loder, A. S., Dobyns, W. B., Winder, T. L., Strahl, S., Mathews, K. D., Nelson, S. F., Moore, S. A., Campbell, K. P. :
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
Nat Genet, 2012 ; 44 (5) : 575-580
Publications (1184)
Béhin, A, Léger, J M :
Quand recourir Ă la Commission permanente des permis de conduire ? Neurologie Pratique, 2012 ; 80 : 9-10
Quand recourir Ă la Commission permanente des permis de conduire ? Neurologie Pratique, 2012 ; 80 : 9-10
Fraysse, B, Weinberger, F, Bardswell, S, Cuello, F, Vignier, N, Geertz, B, Starbatty, J, KrÀmer, E, Coirault, C, Eschenhagen, T, Kentish, J C, Avkiran, M, Carrier, L :
Increased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in mice J Mol Cell Cardiol, 2012 ; 52 : 1299-1307
Increased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in mice J Mol Cell Cardiol, 2012 ; 52 : 1299-1307
Ledoux, I., Laforet, P., Wary, C., Carlier, P. G., Hogrel, J. Y. :
Explorations de lâintolĂ©rance musculaire Ă lâeffort de lâenfant Arch Pediatr, 2012 ; 19 (6 S1) : H107-H108
Explorations de lâintolĂ©rance musculaire Ă lâeffort de lâenfant Arch Pediatr, 2012 ; 19 (6 S1) : H107-H108
Schoindre, Y., Terrier, B., Kahn, J. E., Saadoun, D., Souberbielle, J. C., Benveniste, O., Amoura, Z., Piette, J. C., Cacoub, P., Costedoat-Chalumeau, N. :
Vitamine D et auto-immunité. PremiÚre partie : aspects fondamentaux. Rev Med Interne, 2012 ; 33 (2) : 80-6
Vitamine D et auto-immunité. PremiÚre partie : aspects fondamentaux. Rev Med Interne, 2012 ; 33 (2) : 80-6
Bohm, J., Biancalana, V., Dechene, E. T., Bitoun, M., Pierson, C. R., Schaefer, E., Karasoy, H., Dempsey, M. A., Klein, F., Dondaine, N., Kretz, C., Haumesser, N., Poirson, C., Toussaint, A., Greenleaf, R. S., Barger, M. A., Mahoney, L. J., Kang, P. B., Zanoteli, E., Vissing, J., Witting, N., Echaniz-Laguna, A., Wallgren-Pettersson, C., Dowling, J., Merlini, L., Oldfors, A., Bomme Ousager, L., Melki, J., Krause, A., Jern, C., Oliveira, A. S., Petit, F., Jacquette, A., Chaussenot, A., Mowat, D., Leheup, B., Cristofano, M., Poza Aldea, J. J., Michel, F., Furby, A., Llona, J. E., Van Coster, R., Bertini, E., Urtizberea, J. A., Drouin-Garraud, V., Beroud, C., Prudhon, B., Bedford, M., Mathews, K., Erby, L. A., Smith, S. A., Roggenbuck, J., Crowe, C. A., Brennan Spitale, A., Johal, S. C., Amato, A. A., Demmer, L. A., Jonas, J., Darras, B. T., Bird, T. D., Laurino, M., Welt, S. I., Trotter, C., Guicheney, P., Das, S., Mandel, J. L., Beggs, A. H., Laporte, J. :
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy Hum Mutat, 2012 ; 33 (6) : 949-59
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy Hum Mutat, 2012 ; 33 (6) : 949-59
Guerci, A., Lahoute, C., Hebrard, S., Collard, L., Graindorge, D., Favier, M., Cagnard, N., Batonnet-Pichon, S., Precigout, G., Garcia, L., Tuil, D., Daegelen, D., Sotiropoulos, A. :
Srf-dependent paracrine signals produced by myofibers control satellite cell-mediated skeletal muscle hypertrophy Cell Metab, 2012 ; 15 (1) : 25-37
Srf-dependent paracrine signals produced by myofibers control satellite cell-mediated skeletal muscle hypertrophy Cell Metab, 2012 ; 15 (1) : 25-37
Michot, C., Hubert, L., Romero, N. B., Gouda, A., Mamoune, A., Mathew, S., Kirk, E., Viollet, L., Rahman, S., Bekri, S., Peters, H., McGill, J., Glamuzina, E., Farrar, M., von der Hagen, M., Alexander, I. E., Kirmse, B., Barth, M., Laforet, P., Benlian, P., Munnich, A., Jeanpierre, M., Elpeleg, O., Pines, O., Delahodde, A., de Keyzer, Y., de Lonlay, P. :
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia J Inherit Metab Dis, 2012 ; 35 (6) : 1119-28
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia J Inherit Metab Dis, 2012 ; 35 (6) : 1119-28
Vulin, A., Barthelemy, I., Goyenvalle, A., Thibaud, J. L., Beley, C., Griffith, G., Benchaouir, R., le Hir, M., Unterfinger, Y., Lorain, S., Dreyfus, P., Voit, T., Carlier, P. G., Blot, S., Garcia, L. :
Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping Mol Ther, 2012 ; 20 (11) : 2120-33
Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping Mol Ther, 2012 ; 20 (11) : 2120-33
Durr, A., Gargiulo, M., Feingold, J. :
La phase présymptomatique de la maladie de Huntington , 2012 ; 168 (11) : 806-808
La phase présymptomatique de la maladie de Huntington , 2012 ; 168 (11) : 806-808