1. Effect of diazoxide on Friedreich ataxia models. (8th January 2018) Authors: Santoro, Antonella; Anjomani Virmouni, Sara; Paradies, Eleonora; Villalobos Coa, Valentina L; Al-Mahdawi, Sahar; Khoo, Mee; Porcelli, Vito; Vozza, Angelo; Perrone, Mara; Denora, Nunzio; Taroni, Franco; Merla, Giuseppe; Palmieri, Luigi; Pook, Mark A; Marobbio, Carlo M T Journal: Human molecular genetics Issue: Volume 27:Number 6(2018:Mar. 15) Page Start: 992 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. (1st December 2017) Authors: Punzi, Giuseppe; Porcelli, Vito; Ruggiu, Matteo; Hossain, Md F; Menga, Alessio; Scarcia, Pasquale; Castegna, Alessandra; Gorgoglione, Ruggiero; Pierri, Ciro L; Laera, Luna; Lasorsa, Francesco M; Paradies, Eleonora; Pisano, Isabella; Marobbio, Carlo M T; Lamantea, Eleonora; Ghezzi, Daniele; Tirant... Journal: Human molecular genetics Issue: Volume 27:Number 3(2018:Feb. 01) Page Start: 499 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗