| Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants D Paull, V Emmanuele, KA Weiss, N Treff, L Stewart, H Hua, M Zimmer, ... Nature 493 (7434), 632-637, 2013 | 296 | 2013 |
| Heterogeneity of coenzyme Q10 deficiency: patient study and literature review V Emmanuele, LC López, A Berardo, A Naini, S Tadesse, B Wen, ... Archives of neurology 69 (8), 978-983, 2012 | 255 | 2012 |
| Emerging therapies for mitochondrial diseases M Hirano, V Emmanuele, CM Quinzii Essays in biochemistry 62 (3), 467-481, 2018 | 176 | 2018 |
| Genetic drift can compromise mitochondrial replacement by nuclear transfer in human oocytes M Yamada, V Emmanuele, MJ Sanchez-Quintero, B Sun, G Lallos, ... Cell stem cell 18 (6), 749-754, 2016 | 166 | 2016 |
| Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency C Garone, B Garcia‐Diaz, V Emmanuele, LC Lopez, S Tadesse, ... EMBO molecular medicine 6 (8), 1016-1027, 2014 | 112 | 2014 |
| Natural underlying mt DNA heteroplasmy as a potential source of intra‐person hi PSC variability E Perales‐Clemente, AN Cook, JM Evans, S Roellinger, F Secreto, ... The EMBO journal 35 (18), 1979-1990, 2016 | 92 | 2016 |
| Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice CM Quinzii, C Garone, V Emmanuele, S Tadesse, S Krishna, B Dorado, ... The FASEB Journal 27 (2), 612, 2013 | 72 | 2013 |
| USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis E Barca, RD Ganetzky, P Potluri, M Juanola-Falgarona, X Gai, D Li, ... Human Molecular Genetics 27 (19), 3305-3312, 2018 | 60 | 2018 |
| Clinical presentations of coenzyme q10 deficiency syndrome CM Quinzii, V Emmanuele, M Hirano Molecular syndromology 5 (3-4), 141-146, 2014 | 58 | 2014 |
| Mitochondrial diseases in North America: An analysis of the NAMDC Registry E Barca, Y Long, V Cooley, R Schoenaker, V Emmanuele, S DiMauro, ... Neurology: Genetics 6 (2), e402, 2020 | 57 | 2020 |
| A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike … V Emmanuele, E Sotiriou, PG Rios, J Ganesh, R Ichord, AR Foley, ... Journal of Child Neurology 28 (2), 236-242, 2013 | 50 | 2013 |
| Advances in primary mitochondrial myopathies IP de Barcelos, V Emmanuele, M Hirano Current opinion in neurology 32 (5), 715-721, 2019 | 46 | 2019 |
| CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway G Kleiner, E Barca, M Ziosi, V Emmanuele, Y Xu, A Hidalgo-Gutierrez, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1864 (11 …, 2018 | 46 | 2018 |
| Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation B Garcia-Diaz, MH Barros, S Sanna-Cherchi, V Emmanuele, HO Akman, ... The American Journal of Human Genetics 91 (4), 729-736, 2012 | 43 | 2012 |
| Homotoxicological remedies versus desmopressin versus placebo in the treatment of enuresis: a randomised, double-blind, controlled trial P Ferrara, G Marrone, V Emmanuele, A Nicoletti, A Mastrangelo, E Tiberi, ... Pediatric nephrology 23, 269-274, 2008 | 43 | 2008 |
| MERRF and Kearns–Sayre overlap syndrome due to the mitochondrial DNA m. 3291T> C mutation V Emmanuele, DS Silvers, E Sotiriou, K Tanji, S DiMAURO, M Hirano Muscle & nerve 44 (3), 448-451, 2011 | 37 | 2011 |
| A novel mouse model that recapitulates adult-onset glycogenosis type 4 H Orhan Akman, V Emmanuele, YG Kurt, B Kurt, T Sheiko, S DiMauro, ... Human Molecular Genetics 24 (23), 6801-6810, 2015 | 34 | 2015 |
| Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6 A Berardo, V Emmanuele, W Vargas, K Tanji, A Naini, M Hirano Journal of neurology 267, 823-829, 2020 | 23 | 2020 |
| Retinopathy screening in patients with type 1 diabetes diagnosed in young age using a non-mydriatic digital stereoscopic retinal imaging N Minuto, V Emmanuele, M Vannati, C Russo, C Rebora, S Panarello, ... Journal of endocrinological investigation 35, 389-394, 2012 | 18 | 2012 |
| Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation V Emmanuele, E Sotiriou, M Shirazi, K Tanji, RG Haller, K Heinicke, ... Journal of the neurological sciences 303 (1-2), 39-42, 2011 | 18 | 2011 |
