1. A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism. Issue 10 (7th August 2019) Authors: Diquigiovanni, Chiara; Bergamini, Christian; Diaz, Rebeca; Liparulo, Irene; Bianco, Francesca; Masin, Luca; Baldassarro, Vito Antonio; Rizzardi, Nicola; Tranchina, Antonia; Buscherini, Francesco; Wischmeijer, Anita; Pippucci, Tommaso; Scarano, Emanuela; Cordelli, Duccio Maria; Fato, Romana; Seri,... Journal: FASEB journal Issue: Volume 33:Issue 10(2019) Page Start: 11284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗