Publications (1181)

Han, S. O., Li, S., Brooks, E. D., Masat, E., Leborgne, C., Banugaria, S., Bird, A., Mingozzi, F., Walmann, H., Koeberl, D. :
Enhanced Efficacy from Gene Therapy in Pompe Disease Using Co-receptor Blockade Hum Gene Ther, 2015 ; 26 (1) : 26-35
Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V. L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., Lek, M., Nolent, F., Pappas, C. T., Novak, S. M., D'Amico, A., Malfatti, E., Thomas, B. P., Gabriel, S. B., Gupta, N., Daly, M. J., Ilkovski, B., Houweling, P. J., Davidson, A. E., Swanson, L. C., Brownstein, C. A., Gupta, V. A., Medne, L., Shannon, P., Martin, N., Bick, D. P., Flisberg, A., Holmberg, E., Van den Bergh, P., Lapunzina, P., Waddell, L. B., Sloboda, D. D., Bertini, E., Chitayat, D., Telfer, W. R., Laquerriere, A., Gregorio, C. C., Ottenheijm, C. A., Bonnemann, C. G., Pelin, K., Beggs, A. H., Hayashi, Y. K., Romero, N. B., Laing, N. G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V. M., MacArthur, D. G., North, K. N., Clarke, N. F. :
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy – Erratum J Clin Invest, 2015 ; 125 (1) : 456-7
Santos, D. B., Boussaid, G., Stojkovic, T., Orlikowski, D., Letilly, N., Behin, A., Butel, S., Lofaso, F., Prigent, H. :
Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy Neuromuscul Disord, 2015 ; 25 (8) : 632-9
Malfatti, E., Chaves, M., Bellance, R., Viou, M. T., Sarrazin, E., Fardeau, M., Romero, N. B. :
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy Muscle Nerve, 2015 ; 52 (5) : 895-9
Baudin, P. Y., Marty, B., Robert, B., Shukelovitch, A., Carlier, R. Y., Azzabou, N., Carlier, P. G. :
Qualitative and quantitative evaluation of skeletal muscle fatty degenerative changes using whole-body Dixon nuclear magnetic resonance imaging for an important reduction of the acquisition time Neuromuscul Disord, 2015 ; 25 (10) : 758-63
Allenbach, Y, Leroux, G, Preusse, C, Suarez Calvet, X, Gallardo, E, Hervier, B, Rigolet, A, Hie, M, Limal, N, Hufnagl, P, Zerbe, N, Meyer, A, Maisonobe, T, Aouizerate, J, Uzunhan, Y, Goebel, H H, Benveniste, O, Stenzel, W :
Dermatomyositis with or without anti-MDA5 antibodies: common Interferon signature but distinct NOS2 expression Acta Neuropathol Commun, 2015 ; (SP) :
Michon, C. C., Gargiulo, M., Hahn-Barma, V., Petit, F., Nadaj-Pakleza, A., Herson, A., Eymard, B., Labrune, P., Laforet, P. :
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases J Inherit Metab Dis, 2015 ; 38 (3) : 573-580
Clément, S., Gargiulo, M., Feingold, J., Durr, A. :
Lignes directrices et bonnes pratiques du test présymptomatique de la maladie de Huntington : passé, présent et futur en France Revue neurologique, 2015 ; 171 (6-7) : 572-580
Negroni, E., Bigot, A., Butler-Browne, G., Trollet, C., Mouly, V. :
Cellular therapies for muscular dystrophies: frustrations and clinical successes Hum Gene Ther, 2015 ; :
Henique, C., Mansouri, A., Vavrova, E., Lenoir, V., Ferry, A., Esnous, C., Ramond, E., Girard, J., Bouillaud, F., Prip-Buus, C., Cohen, I. :
Increasing mitochondrial muscle fatty acid oxidation induces skeletal muscle remodeling toward an oxidative phenotype FASEB J, 2015 ; 29 (6) : 2473-83