A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

by Andrea Ciammola, Davide Sangalli, Jenny Sassone, Jenny Sassone, Barbara Poletti, Laura Carelli, Paolo Banfi, Gabriele Pappacoda, Isabella Ceccherini, Alice Grossi, Luca Maderna, Monica Pingue, Monica Pingue, Floriano Girotti, Vincenzo Silani, Vincenzo Silani
Published 2019-11-01

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

by Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Agnese Scatigno, Anna R. Lincesso, Loredana Perego, Monica Pingue, Isabella Pellicioli, Lucia Migliazza, Giovanna Mangili, Lorenzo Galletti, Ursula Giussani, Ezio Bonanomi, Anna Cereda, Maria Iascone
Published 2020-03-01