| Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years C Angelini, C Semplicini, S Ravaglia, B Bembi, S Servidei, E Pegoraro, ... Journal of neurology 259, 952-958, 2012 | 156 | 2012 |
| Cytochrome c oxidase activity is a metabolic checkpoint that regulates cell fate decisions during T cell activation and differentiation TN Tarasenko, SE Pacheco, MK Koenig, J Gomez-Rodriguez, ... Cell metabolism 25 (6), 1254-1268. e7, 2017 | 141 | 2017 |
| Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy M Ripolone, D Ronchi, R Violano, D Vallejo, G Fagiolari, E Barca, ... JAMA neurology 72 (6), 666-675, 2015 | 131 | 2015 |
| Deoxycytidine and deoxythymidine treatment for thymidine kinase 2 deficiency C Lopez‐Gomez, RJ Levy, MJ Sanchez‐Quintero, M Juanola‐Falgarona, ... Annals of neurology 81 (5), 641-652, 2017 | 102 | 2017 |
| Inhibition of NAPDH oxidase 2 (NOX2) prevents oxidative stress and mitochondrial abnormalities caused by saturated fat in cardiomyocytes LC Joseph, E Barca, P Subramanyam, M Komrowski, U Pajvani, ... PloS one 11 (1), e0145750, 2016 | 100 | 2016 |
| Inhibition of NADPH oxidase 2 (NOX2) prevents sepsis-induced cardiomyopathy by improving calcium handling and mitochondrial function LC Joseph, D Kokkinaki, MC Valenti, GJ Kim, E Barca, D Tomar, ... JCI insight 2 (17), 2017 | 94 | 2017 |
| Retrospective natural history of thymidine kinase 2 deficiency C Garone, RW Taylor, A Nascimento, J Poulton, C Fratter, ... Journal of medical genetics 55 (8), 515-521, 2018 | 91 | 2018 |
| ANO10 mutations cause ataxia and coenzyme Q10 deficiency A Balreira, V Boczonadi, E Barca, A Pyle, B Bansagi, M Appleton, ... Journal of neurology 261, 2192-2198, 2014 | 87 | 2014 |
| Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment F Montagnese, E Barca, O Musumeci, S Mondello, A Migliorato, A Ciranni, ... Journal of Neurology 262, 968-978, 2015 | 79 | 2015 |
| The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene M Luna‐Sánchez, E Díaz‐Casado, E Barca, MÁ Tejada, ... EMBO molecular medicine 7 (5), 670-687, 2015 | 76 | 2015 |
| Decreased coenzyme Q10 levels in multiple system atrophy cerebellum E Barca, G Kleiner, G Tang, M Ziosi, S Tadesse, E Masliah, ED Louis, ... Journal of Neuropathology & Experimental Neurology 75 (7), 663-672, 2016 | 73 | 2016 |
| Muscle imaging findings in GNE myopathy G Tasca, E Ricci, M Monforte, F Laschena, P Ottaviani, C Rodolico, ... Journal of neurology 259, 1358-1365, 2012 | 71 | 2012 |
| 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 | 67 | 2017 |
| Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function M Gaeta, E Barca, P Ruggeri, F Minutoli, C Rodolico, S Mazziotti, ... Molecular genetics and metabolism 110 (3), 290-296, 2013 | 64 | 2013 |
| Three-dimensional analysis of mitochondrial crista ultrastructure in a patient with Leigh syndrome by in situ cryoelectron tomography SE Siegmund, R Grassucci, SD Carter, E Barca, ZJ Farino, ... Iscience 6, 83-91, 2018 | 60 | 2018 |
| Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII) O Musumeci, C Bruno, T Mongini, C Rodolico, M Aguennouz, E Barca, ... Neuromuscular Disorders 22 (4), 325-330, 2012 | 58 | 2012 |
| 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 | 54 | 2018 |
| Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3 E Barca, O Musumeci, F Montagnese, S Marino, F Granata, D Nunnari, ... Clinical genetics 90 (2), 156-160, 2016 | 48 | 2016 |
| 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 | 44 | 2020 |
| 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 | 40 | 2018 |
