Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants - Zampieri, Stefania; Cattarossi, Silvia; Oller Ramirez, Ana Maria; Rosano, Camillo; Lourenço, Charles Marques; Passon, Nadia; Moroni, Isabella; Uziel, Graziella; Pettinari, Antonella; Stanzial, Franco; Kremer, Raquel Dodelson de; Azar, Nydia Beatriz; et al. (PLOS ONE, 2012)