| Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy V Tiranti, C Viscomi, T Hildebrandt, I Di Meo, R Mineri, C Tiveron, ... Nature medicine 15 (2), 200-205, 2009 | 422 | 2009 |
| Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy V Tiranti, C Viscomi, T Hildebrandt, I Di Meo, R Mineri, C Tiveron, ... Nature medicine 15 (2), 200-205, 2009 | 420 | 2009 |
| Transcription factor EB controls metabolic flexibility during exercise G Mansueto, A Armani, C Viscomi, L D’Orsi, R De Cegli, EV Polishchuk, ... Cell metabolism 25 (1), 182-196, 2017 | 292 | 2017 |
| Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy I Di Meo, G Fagiolari, A Prelle, C Viscomi, M Zeviani, V Tiranti Antioxidants & redox signaling 15 (2), 353-362, 2011 | 95 | 2011 |
| Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy I Di Meo, A Auricchio, C Lamperti, A Burlina, C Viscomi, M Zeviani EMBO molecular medicine 4 (9), 1008-1014, 2012 | 89 | 2012 |
| SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder V Del Dotto, F Ullah, I Di Meo, P Magini, M Gusic, A Maresca, L Caporali, ... The Journal of clinical investigation 130 (1), 108-125, 2020 | 75 | 2020 |
| Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease C Dionisi-Vici, D Diodato, G Torre, S Picca, R Pariante, ... Brain 139 (4), 1045-1051, 2016 | 74 | 2016 |
| Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE J Torres-Torronteras, C Viscomi, R Cabrera-Pérez, Y Cámara, I Di Meo, ... Molecular therapy 22 (5), 901-907, 2014 | 74 | 2014 |
| Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways C Podrini, I Rowe, R Pagliarini, ASH Costa, M Chiaravalli, I Di Meo, H Kim, ... Communications biology 1 (1), 194, 2018 | 72 | 2018 |
| Classification and molecular pathogenesis of NBIA syndromes I Di Meo, V Tiranti european journal of paediatric neurology 22 (2), 272-284, 2018 | 72 | 2018 |
| Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy R Mineri, M Rimoldi, AB Burlina, S Koskull, C Perletti, B Heese, ... Journal of medical genetics 45 (7), 473-478, 2008 | 71 | 2008 |
| Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway M Ziosi, I Di Meo, G Kleiner, XH Gao, E Barca, MJ Sanchez‐Quintero, ... EMBO molecular medicine 9 (1), 96-111, 2017 | 66 | 2017 |
| AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome I Di Meo, S Marchet, C Lamperti, M Zeviani, C Viscomi Gene therapy 24 (10), 661-667, 2017 | 64 | 2017 |
| AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure E Bottani, C Giordano, G Civiletto, I Di Meo, A Auricchio, E Ciusani, ... Molecular Therapy 22 (1), 10-17, 2014 | 57 | 2014 |
| Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches I Di Meo, C Lamperti, V Tiranti EMBO molecular medicine 7 (10), 1257-1266, 2015 | 52 | 2015 |
| Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches A Drousiotou, I DiMeo, R Mineri, T Georgiou, G Stylianidou, V Tiranti Clinical genetics 79 (4), 385-390, 2011 | 46 | 2011 |
| Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy C Giordano, C Viscomi, M Orlandi, P Papoff, A Spalice, A Burlina, I Di Meo, ... Journal of inherited metabolic disease 35, 451-458, 2012 | 44 | 2012 |
| Inborn errors of coenzyme A metabolism and neurodegeneration I Di Meo, M Carecchio, V Tiranti Journal of Inherited Metabolic Disease 42 (1), 49-56, 2019 | 40 | 2019 |
| Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications TM Hildebrandt, I Di Meo, M Zeviani, C Viscomi, HP Braun Bioscience Reports 33 (4), e00052, 2013 | 35 | 2013 |
| Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy M Boyer, M Sowa, I Di Meo, S Eftekharian, MR Steenari, V Tiranti, ... Molecular Genetics and Metabolism 124 (1), 57-63, 2018 | 33 | 2018 |
Massimo Zeviani, MD, PhDUniversity of PadovaVerified email at unipd.it
