A nonsense mutation of the ATRX gene causing mild, moderate and profound mental retardation in members of a single family. by Gibbons, R, Guerrini, R, Shanahan, J, Carrozzo, R, Bonanni, P, Higgs, DR

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. by Guerrini, R, Shanahan, J, Carrozzo, R, Bonanni, P, Higgs, D, Gibbons, R

Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12... by Guerrini, R, Bonanni, P, Patrignani, A, Brown, P, Parmeggiani, L, Grosse, P, Brovedani, P, Moro, F, Aridon, P, Carrozzo, R, Casari, G

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. by Cosma, M, Pepe, S, Parenti, G, Settembre, C, Annunziata, I, Wade-Martins, R, Di Domenico, C, Di Natale, P, Mankad, A, Cox, B, Uziel, G, Mancini, G, Zammarchi, E, Donati, M, Kleijer, W, Filocamo, M, Carrozzo, R, Carella, M, Ballabio, A