Cirak, S., Foley, A. R., Herrmann, R., Willer, T., Yau, S., Stevens, E., Torelli, S., Brodd, L., Kamynina, A., Vondracek, P., Roper, H., Longman, C., Korinthenberg, R., Marrosu, G., Nurnberg, P., Michele, D. E., Plagnol, V., Hurles, M., Moore, S. A., Sewry, C. A., Campbell, K. P., Voit, T., Muntoni, F. :
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
Brain, 2013 ; 136 (Pt 1) : 269-281
Publications (1181)
Pakula, A., Schneider, J., Janke, J., Zacharias, U., Schulz, H., Hubner, N., Mahler, A., Spuler, A., Spuler, S., Carlier, P. G., Boschmann, M. :
Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1) PLoS ONE, 2013 ; 8 (9) : e73573
Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1) PLoS ONE, 2013 ; 8 (9) : e73573
Perrin, L., Feasson, L., Furby, A., Laforet, P., Petit, F. M., Gautheron, V., Chabrier, S. :
PNPLA2 mutation: A paediatric case with early onset but indolent course Neuromuscul Disord, 2013 ; 23 (12) : 986-91
PNPLA2 mutation: A paediatric case with early onset but indolent course Neuromuscul Disord, 2013 ; 23 (12) : 986-91
Bucher, T., Colle, M. A., Wakeling, E., Dubreil, L., Fyfe, J., Briot-Nivard, D., Maquigneau, M., Raoul, S., Cherel, Y., Astord, S., Duque, S., Marais, T., Voit, T., Moullier, P., Barkats, M., Joussemet, B. :
scAAV9 Intracisternal Delivery Results in Efficient Gene Transfer to the Central Nervous System of a Feline Model of Motor Neuron Disease Hum Gene Ther, 2013 ; 24 (7) : 670-682
scAAV9 Intracisternal Delivery Results in Efficient Gene Transfer to the Central Nervous System of a Feline Model of Motor Neuron Disease Hum Gene Ther, 2013 ; 24 (7) : 670-682
Thuault, S., Hayashi, S., Lagirand-Cantaloube, J., Plutoni, C., Comunale, F., Delattre, O., Relaix, F., Gauthier-Rouviere, C. :
P-cadherin is a direct PAX3-FOXO1A target involved in alveolar rhabdomyosarcoma aggressiveness Oncogene, 2013 ; 32 (15) : 1876-87
P-cadherin is a direct PAX3-FOXO1A target involved in alveolar rhabdomyosarcoma aggressiveness Oncogene, 2013 ; 32 (15) : 1876-87
Malfatti, E., Laforet, P., Jardel, C., Stojkovic, T., Behin, A., Eymard, B., Lombes, A., Benmalek, A., Becane, H. M., Berber, N., Meune, C., Duboc, D., Wahbi, K. :
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation Neurology, 2013 ; 80 (1) : 100-105
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation Neurology, 2013 ; 80 (1) : 100-105
Mingozzi, F., Anguela, X. M., Pavani, G., Chen, Y., Davidson, R. J., Hui, D. J., Yazicioglu, M., Elkouby, L., Hinderer, C. J., Faella, A., Howard, C., Tai, A., Podsakoff, G. M., Zhou, S., Basner-Tschakarjan, E., Wright, J. F., High, K. A. :
Overcoming preexisting humoral immunity to AAV using capsid decoys Sci Transl Med, 2013 ; 5 (194) : 194ra92
Overcoming preexisting humoral immunity to AAV using capsid decoys Sci Transl Med, 2013 ; 5 (194) : 194ra92
Gauthier, M., Marteyn, A., Denis, J. A., Cailleret, M., Giraud-Triboult, K., Aubert, S., Lecuyer, C., Marie, J., Furling, D., Vernet, R., Yanguas, C., Baldeschi, C., Pietu, G., Peschanski, M., Martinat, C. :
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1 Hum Mol Genet, 2013 ; 22 (25) : 5188-98
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1 Hum Mol Genet, 2013 ; 22 (25) : 5188-98
Mingozzi, F., Chen, Y., Edmonson, S. C., Zhou, S., Thurlings, R. M., Tak, P. P., High, K. A., Vervoordeldonk, M. J. :
Prevalence and pharmacological modulation of humoral immunity to AAV vectors in gene transfer to synovial tissue Gene Ther, 2013 ; 20 (4) : 417-24
Prevalence and pharmacological modulation of humoral immunity to AAV vectors in gene transfer to synovial tissue Gene Ther, 2013 ; 20 (4) : 417-24
Gertel-Lapter, S., Mizrachi, K., Berrih-Aknin, S., Fuchs, S., Souroujon, M. C. :
Impairment of regulatory T cells in myasthenia gravis: Studies in an experimental model Autoimmun Rev, 2013 ; 12 (9) : 894-903
Impairment of regulatory T cells in myasthenia gravis: Studies in an experimental model Autoimmun Rev, 2013 ; 12 (9) : 894-903
