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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. Among authors: perli e. 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: perli e. Hum Pathol. 2016 Dec;58:78-89. doi: 10.1016/j.humpath.2016.08.004. Epub 2016 Aug 25. Hum Pathol. 2016. PMID: 27569295
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Perli E, Pisano A, Glasgow RIC, Carbo M, Hardy SA, Falkous G, He L, Cerbelli B, Pignataro MG, Zacara E, Re F, Della Monica PL, Morea V, Bonnen PE, Taylor RW, d'Amati G, Giordano C. Perli E, et al. Sci Rep. 2019 Mar 25;9(1):5108. doi: 10.1038/s41598-019-41483-9. Sci Rep. 2019. PMID: 30911037 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. 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
18 results