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A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
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 EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R. Torraco A, et al. Among authors: gelmetti v. Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25. Clin Genet. 2017. PMID: 27102574
Molecular pathways in sporadic PD.
Valente EM, Arena G, Torosantucci L, Gelmetti V. Valente EM, et al. Among authors: gelmetti v. Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S71-3. doi: 10.1016/S1353-8020(11)70023-2. Parkinsonism Relat Disord. 2012. PMID: 22166460 Review.
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy.
Michiorri S, Gelmetti V, Giarda E, Lombardi F, Romano F, Marongiu R, Nerini-Molteni S, Sale P, Vago R, Arena G, Torosantucci L, Cassina L, Russo MA, Dallapiccola B, Valente EM, Casari G. Michiorri S, et al. Among authors: gelmetti v. Cell Death Differ. 2010 Jun;17(6):962-74. doi: 10.1038/cdd.2009.200. Epub 2010 Jan 8. Cell Death Differ. 2010. PMID: 20057503
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, Gelmetti V, Lepri F, Copetti M, Lamorte G, Cristina Digilio M, Marino B, Zaza A, den Hertog J, Dallapiccola B, De Luca A. Guida V, et al. Among authors: gelmetti v. Eur J Hum Genet. 2013 Jan;21(1):69-75. doi: 10.1038/ejhg.2012.109. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713807 Free PMC article.
30 results