Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect - Santoro, Massimo; Modoni, Anna; Sabatelli, Mario; Madia, Francesca; Piemonte, Fiorella; Tozzi, Giulia; Ricci, Enzo; Tonali, Pietro A.; Silvestri, Gabriella (Molecular Genetics & Metabolism, 2007)