Publications (1184)

Claeys, K. G., Zuchner, S., Kennerson, M., Berciano, J., Garcia, A., Verhoeven, K., Storey, E., Merory, J. R., Bienfait, H. M., Lammens, M., Nelis, E., Baets, J., De Vriendt, E., Berneman, Z. N., De Veuster, I., Vance, J. M., Nicholson, G., Timmerman, V., De Jonghe, P. :
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy Brain, 2009 ; 132 (Pt 7) : 1741-52
Hicks, D., Lampe, A. K., Laval, S. H., Allamand, V., Jimenez-Mallebrera, C., Walter, M. C., Muntoni, F., Quijano-Roy, S., Richard, P., Straub, V., Lochmuller, H., Bushby, K. M. :
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue Brain, 2009 ; 132 (Pt 1) : 147-55
Muntoni, F., Guicheney, P., Voit, T. :
158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th-10th February 2008 Naarden, The Netherlands Neuromuscul Disord, 2009 ; 19 (3) : 229-34
Yanagisawa, A., Bouchet, C., Quijano-Roy, S., Vuillaumier-Barrot, S., Clarke, N., Odent, S., Rodriguez, D., Romero, N. B., Osawa, M., Endo, T., Lia, T. A., Seta, N., Guicheney, P. :
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation Eur J Med Genet, 2009 ; 52 (4) : 201-206