Publications (1184)

Bruneteau, G., Simonet, T., Bauche, S., Mandjee, N., Malfatti, E., Girard, E., Tanguy, M. L., Behin, A., Khiami, F., Sariali, E., Hell-Remy, C., Salachas, F., Pradat, P. F., Fournier, E., Lacomblez, L., Koenig, J., Romero, N. B., Fontaine, B., Meininger, V., Schaeffer, L., Hantai, D. :
Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression Brain, 2013 ; 136 (Pt 8) : 2359-68
Martino, A. T., Basner-Tschakarjan, E., Markusic, D. M., Finn, J. D., Hinderer, C., Zhou, S., Ostrov, D. A., Srivastava, A., Ertl, H. C., Terhorst, C., High, K. A., Mingozzi, F., Herzog, R. W. :
Engineered AAV vector minimizes in vivo targeting of transduced hepatocytes by capsid-specific CD8+ T cells Blood, 2013 ; 121 (12) : 2224-33
Cavalcante, P., Cufi, P., Mantegazza, R., Berrih-Aknin, S., Bernasconi, P., Le Panse, R. :
Etiology of myasthenia gravis: Innate immunity signature in pathological thymus Autoimmun Rev, 2013 ; 12 (9) : 863-74
Hui, D. J., Basner-Tschakarjan, E., Chen, Y., Davidson, R. J., Buchlis, G., Yazicioglu, M., Pien, G. C., Finn, J. D., Haurigot, V., Tai, A., Scott, D. W., Cousens, L. P., Zhou, S., De Groot, A. S., Mingozzi, F. :
Modulation of CD8+ T cell responses to AAV vectors with IgG-derived MHC class II epitopes Mol Ther, 2013 ; 21 (9) : 1727-37
Krasemann, S., Mearini, G., Kramer, E., Wagenfuhr, K., Schulz-Schaeffer, W., Neumann, M., Bodemer, W., Kaup, F. J., Beekes, M., Carrier, L., Aguzzi, A., Glatzel, M. :
BSE-associated prion-amyloid cardiomyopathy in primates Emerg Infect Dis, 2013 ; 19 (6) : 985-988
Simon, D., Alberti, C., Alison, M., Lehenaff, L., Chevenne, D., Boizeau, P., Canal, A., Ollivier, G., Decostre, V., Jacqz-Aigrain, E., Carel, J. C., Czernichow, P., Hogrel, J. Y. :
Effects of Recombinant Human Growth Hormone for 1 Year on Body Composition and Muscle Strength in Children on Long-Term Steroid Therapy: Randomized Controlled, Delayed-Start Study J Clin Endocrinol Metab, 2013 ; 98 (7) : 2746-54
Preisler, N., Pradel, A., Husu, E., Madsen, K. L., Becquemin, M. H., Mollet, A., Labrune, P., Petit, F., Hogrel, J. Y., Jardel, C., Maillot, F., Vissing, J., Laforet, P. :
Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency? Mol Genet Metab, 2013 ; 109 (1) : 14-20
Duguez, S., Duddy, W., Johnston, H., Laine, J., Le Bihan, M. C., Brown, K. J., Bigot, A., Hathout, Y., Butler-Browne, G., Partridge, T. :
Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion Cell Mol Life Sci, 2013 ; 70 (12) : 2159-2174
Laforet, P., Laloui, K., Granger, B., Hamroun, D., Taouagh, N., Hogrel, J. Y., Orlikowski, D., Bouhour, F., Lacour, A., Salort-Campana, E., Penisson-Besnier, I., Sacconi, S., Zagnoli, F., Chapon, F., Eymard, B., Desnuelle, C., Pouget, J. :
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease Rev Neurol (Paris), 2013 ; 169 (8-9) : 595-602
Ravenscroft, G., Miyatake, S., Lehtokari, V. L., Todd, E. J., Vornanen, P., Yau, K. S., Hayashi, Y. K., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., Yamashita, S., Ohya, T., Sakamoto, Y., Koshimizu, E., Imamura, S., Yamashita, M., Ogata, K., Shiina, M., Bryson-Richardson, R. J., Vaz, R., Ceyhan, O., Brownstein, C. A., Swanson, L. C., Monnot, S., Romero, N. B., Amthor, H., Kresoje, N., Sivadorai, P., Kiraly-Borri, C., Haliloglu, G., Talim, B., Orhan, D., Kale, G., Charles, A. K., Fabian, V. A., Davis, M. R., Lammens, M., Sewry, C. A., Manzur, A., Muntoni, F., Clarke, N. F., North, K. N., Bertini, E., Nevo, Y., Willichowski, E., Silberg, I. E., Topaloglu, H., Beggs, A. H., Allcock, R. J., Nishino, I., Wallgren-Pettersson, C., Matsumoto, N., Laing, N. G. :
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy Am J Hum Genet, 2013 ; 93 (1) : 6-18