1. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Issue 3 (25th May 2016) Authors: Torraco, A.; Bianchi, M.; Verrigni, D.; Gelmetti, V.; Riley, L.; Niceta, M.; Martinelli, D.; Montanari, A.; Guo, Y.; Rizza, T.; Diodato, D.; Di Nottia, M.; Lucarelli, B.; Sorrentino, F.; Piemonte, F.; Francisci, S.; Tartaglia, M.; Valente, E.M.; Dionisi‐Vici, C.; Christodoulou, J. Journal: Clinical genetics Issue: Volume 91:Issue 3(2017) Page Start: 441 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. DJ‐1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7. Issue 1 (6th October 2016) Authors: Di Nottia, M.; Masciullo, M.; Verrigni, D.; Petrillo, S.; Modoni, A.; Rizzo, V.; Di Giuda, D.; Rizza, T.; Niceta, M.; Torraco, A.; Bianchi, M.; Santoro, M.; Bentivoglio, A.R.; Bertini, E.; Piemonte, F.; Carrozzo, R.; Silvestri, G. Journal: Clinical genetics Issue: Volume 92:Issue 1(2017) Page Start: 18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect. Issue 6 (17th March 2017) Authors: Verrigni, D.; Diodato, D.; Di Nottia, M.; Torraco, A.; Bellacchio, E.; Rizza, T.; Tozzi, G.; Verardo, M.; Piemonte, F.; Tasca, G.; D'Amico, A.; Bertini, E.; Carrozzo, R. Journal: Clinical genetics Issue: Volume 91:Issue 6(2017) Page Start: 918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗