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Author/Creator Piemonte, F.

1. 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) ↗

2. 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) ↗

5. Lysosomal acid lipase activity is reduced in patients with cirrhosis and associated with surrogate indices of portal hypertension. (10th February 2016)

Authors:
Vespasiani Gentilucci, U.; Gallo, P.; Porcari, A.; Vorini, F.; Piccioni, L.; Galati, G.; De Vincentis, A.; Dell'Unto, C.; Piemonte, F.; Tozzi, G.; Riva, E.; Picardi, A.
Journal:
Digestive and liver disease
Issue:
Volume 48(2016)Supplement 1
Page Start:
e34
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Progressive reduction of blood lysosomal acid lipase activity according to stage of adult chronic liver disease and altered enzymatic cellular distribution in cirrhosis. Issue 1 (February 2018)

Authors:
Mignini, I.; Mischitelli, M.; Angelico, F.; De Santis, A.; Attilia, M.L.; Baratta, F.; Ferri, F.; Pastori, D.; Del Ben, M.; Pellone, M.; Parisse, S.; Piemonte, F.; Tozzi, G.; D'Amico, J.; Violi, F.; Corradini, S. Ginanni
Journal:
Digestive and liver disease
Issue:
Volume 50:Issue 1(2018)Supplement
Page Start:
37
Record Type:
Journal Article
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7. 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) ↗