Pubblicazioni

Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes

2024 - NEUROBIOLOGY OF DISEASE

Brignone, M. S.; Lanciotti, A.; Molinari, P.; Mallozzi, C.; De Nuccio, C.; Caprini, E. S.; Petrucci, T. C.; Visentin, S.; Ambrosini, E.

Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease

2024 - FRONTIERS IN NEUROLOGY

Romano, Carmela; Morena, Emanuele; Petrucci, Simona; Diamant, Selene; Marconi, Martina; Travaglini, Lorena; Zanni, Ginevra; Piane, Maria; Salvetti, Marco; Romano, Silvia; Ristori, Giovanni

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms

2024 - GENES

Sartorelli, J.; Travaglini, L.; Macchiaiolo, M.; Garone, G.; Gonfiantini, M. V.; Vecchio, D.; Sinibaldi, L.; Frascarelli, F.; Ceccatelli, V.; Petrillo, S.; Piemonte, F.; Piccolo, G.; Novelli, A.; Longo, D.; Pro, S.; D'Amico, A.; Bertini, E. S.; Nicita, F.