Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

Autor De Sandre-Giovann..., A, Chaouch, M, Boccaccio, I, Bernard, R, Delague, V, Grid, D, Vallat, J, Levy, N, Megarbane, A
Vydáno 2003

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidat...

Autor Aubourg, P, Krahn, M, Bernard, R, Nguyen, K, Forzano, O, Boccaccio, I, Delague, V, De Sandre-Giovann..., A, Pouget, J, Depetris, D, Mattei, M, Philip, N, Levy, N
Vydáno 2005