P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

by Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza
Published 2019-08-01

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

by Esperanza Fernández, Esperanza Fernández, Elena Gennaro, Filomena Pirozzi, Filomena Pirozzi, Chiara Baldo, Francesca Forzano, Francesca Forzano, Licia Turolla, Francesca Faravelli, Denise Gastaldo, Domenico Coviello, Marina Grasso, Claudia Bagni, Claudia Bagni, Claudia Bagni, Claudia Bagni
Published 2018-11-01