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

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

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

Autor 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
Vydáno v Mol Genet Genomic Med (2020)