Di Donfrancesco, Alessia; Berlingieri, Christian; Giacomello, Marta; Frascarelli, Chiara; Magalhaes Rebelo, Ana Paula; Bindoff, Laurence Albert; Reeval, Segel; Renbaum, Paul; Santorelli, Filippo M.; Massaro, Giulia; Viscomi, Carlo; Zeviani, Massimo; Ghezzi, Daniele; Bottani, Emanuela; Brunetti, Dario (Journal article; Peer reviewed, 2023)
Introduction: Biallelic variants in PITRM1 are associated with a slowly progressive syndrome characterized by intellectual disability, spinocerebellar ataxia, cognitive decline and psychosis. The pitrilysin metallopeptidase ...