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

著者: Palumbo, Orazio, Palumbo, Pietro, Leone, Maria P., Stallone, Raffaella, Palladino, Teresa, Vendemiale, Marcella, Palladino, Stefano, Papadia, Francesco, Carella, Massimo, Fischetto, Rira
出版年 Mol Syndromol (2016)

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

著者: 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
出版年 Mol Genet Genomic Med (2020)