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
Publications (1184)
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
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
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
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation Eur J Med Genet, 2009 ; 52 (4) : 201-206