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Page 1
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R Jr, Ventura DF, Moraes M, Moraes Filho M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Loguercio Polosa P, Cantatore P, Carelli V. Giordano C, et al. Among authors: pisano a. Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24. Brain. 2014. PMID: 24369379 Free PMC article.
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.
Perli E, Giordano C, Tuppen HA, Montopoli M, Montanari A, Orlandi M, Pisano A, Catanzaro D, Caparrotta L, Musumeci B, Autore C, Morea V, Di Micco P, Campese AF, Leopizzi M, Gallo P, Francisci S, Frontali L, Taylor RW, d'Amati G. Perli E, et al. Among authors: pisano a. Hum Mol Genet. 2012 Jan 1;21(1):85-100. doi: 10.1093/hmg/ddr440. Epub 2011 Sep 26. Hum Mol Genet. 2012. PMID: 21945886
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells.
Perli E, Giordano C, Pisano A, Montanari A, Campese AF, Reyes A, Ghezzi D, Nasca A, Tuppen HA, Orlandi M, Di Micco P, Poser E, Taylor RW, Colotti G, Francisci S, Morea V, Frontali L, Zeviani M, d'Amati G. Perli E, et al. Among authors: pisano a. EMBO Mol Med. 2014 Feb;6(2):169-82. doi: 10.1002/emmm.201303198. Epub 2014 Jan 10. EMBO Mol Med. 2014. PMID: 24413190 Free PMC article.
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
Pippucci T, Maresca A, Magini P, Cenacchi G, Donadio V, Palombo F, Papa V, Incensi A, Gasparre G, Valentino ML, Preziuso C, Pisano A, Ragno M, Liguori R, Giordano C, Tonon C, Lodi R, Parmeggiani A, Carelli V, Seri M. Pippucci T, et al. Among authors: pisano a. EMBO Mol Med. 2015 Jun;7(6):848-58. doi: 10.15252/emmm.201404399. EMBO Mol Med. 2015. PMID: 25870235 Free PMC article.
Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.
Perli E, Fiorillo A, Giordano C, Pisano A, Montanari A, Grazioli P, Campese AF, Di Micco P, Tuppen HA, Genovese I, Poser E, Preziuso C, Taylor RW, Morea V, Colotti G, d'Amati G. Perli E, et al. Among authors: pisano a. Hum Mol Genet. 2016 Mar 1;25(5):903-15. doi: 10.1093/hmg/ddv619. Epub 2015 Dec 31. Hum Mol Genet. 2016. PMID: 26721932 Free PMC article.
Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure.
Pisano A, Cerbelli B, Perli E, Pelullo M, Bargelli V, Preziuso C, Mancini M, He L, Bates MG, Lucena JR, Della Monica PL, Familiari G, Petrozza V, Nediani C, Taylor RW, d'Amati G, Giordano C. Pisano A, et al. Cardiovasc Pathol. 2016 Mar-Apr;25(2):103-12. doi: 10.1016/j.carpath.2015.09.009. Epub 2015 Sep 30. Cardiovasc Pathol. 2016. PMID: 26764143 Free PMC article.
Nonischemic left ventricular scar and cardiac sudden death in the young.
di Gioia CR, Giordano C, Cerbelli B, Pisano A, Perli E, De Dominicis E, Poscolieri B, Palmieri V, Ciallella C, Zeppilli P, d'Amati G. di Gioia CR, et al. Among authors: pisano a. Hum Pathol. 2016 Dec;58:78-89. doi: 10.1016/j.humpath.2016.08.004. Epub 2016 Aug 25. Hum Pathol. 2016. PMID: 27569295
344 results