PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature

by Palumbo, Orazio, Palumbo, Pietro, Leone, Maria P., Stallone, Raffaella, Palladino, Teresa, Vendemiale, Marcella, Palladino, Stefano, Papadia, Francesco, Carella, Massimo, Fischetto, Rira
Published in Mol Syndromol (2016)

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

by Fischetto, Rita, Palladino, Valentina, Mancardi, Maria M., Giacomini, Thea, Palladino, Stefano, Gaeta, Alberto, Di Rocco, Maja, Zampini, Lucia, Lassandro, Giuseppe, Favia, Vito, Tripaldi, Maria E., Strisciuglio, Pietro, Romano, Alfonso, Severino, Mariasavina, Morrone, Amelia, Giordano, Paola
Published in Mol Genet Genomic Med (2020)