| Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations LC López, M Schuelke, CM Quinzii, T Kanki, RJT Rodenburg, A Naini, ... The American Journal of Human Genetics 79 (6), 1125-1129, 2006 | 447 | 2006 |
| A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency C Quinzii, A Naini, L Salviati, E Trevisson, P Navas, S DiMauro, M Hirano The American Journal of Human Genetics 78 (2), 345-349, 2006 | 397 | 2006 |
| The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene K Gempel, H Topaloglu, B Talim, P Schneiderat, BGH Schoser, VH Hans, ... Brain 130 (8), 2037-2044, 2007 | 364 | 2007 |
| ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency C Lagier-Tourenne, M Tazir, LC López, CM Quinzii, M Assoum, N Drouot, ... The American Journal of Human Genetics 82 (3), 661-672, 2008 | 350 | 2008 |
| Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease C Kornblum, TJ Nicholls, TB Haack, S Schöler, V Peeva, K Danhauser, ... Nature genetics 45 (2), 214-219, 2013 | 259 | 2013 |
| A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease AJ Duncan, M Bitner-Glindzicz, B Meunier, H Costello, IP Hargreaves, ... The American Journal of Human Genetics 84 (5), 558-566, 2009 | 250 | 2009 |
| 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 | 242 | 2012 |
| Human Coenzyme Q10 Deficiency CM Quinzii, S DiMauro, M Hirano Neurochemical research 32, 723-727, 2007 | 224 | 2007 |
| Coenzyme Q and mitochondrial disease CM Quinzii, M Hirano Developmental disabilities research reviews 16 (2), 183-188, 2010 | 217 | 2010 |
| Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition L Salviati, S Sacconi, L Murer, G Zacchello, L Franceschini, AM Laverda, ... Neurology 65 (4), 606-608, 2005 | 215 | 2005 |
| Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation CM Quinzii, AG Kattah, A Naini, HO Akman, VK Mootha, S DiMauro, ... Neurology 64 (3), 539-541, 2005 | 202 | 2005 |
| Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency CM Quinzii, LC López, RW Gilkerson, B Dorado, J Coku, AB Naini, ... The FASEB Journal 24 (10), 3733, 2010 | 184 | 2010 |
| Navajo neurohepatopathy is caused by a mutation in the MPV17 gene CL Karadimas, TH Vu, SA Holve, P Chronopoulou, C Quinzii, SD Johnsen, ... The American Journal of Human Genetics 79 (3), 544-548, 2006 | 180 | 2006 |
| Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency CM Quinzii, LC López, J Von-Moltke, A Naini, S Krishna, M Schuelke, ... The FASEB journal: official publication of the Federation of American …, 2008 | 179 | 2008 |
| Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis JM López-Martín, L Salviati, E Trevisson, G Montini, S DiMauro, C Quinzii, ... Human molecular genetics 16 (9), 1091-1097, 2007 | 159 | 2007 |
| Emerging therapies for mitochondrial diseases M Hirano, V Emmanuele, CM Quinzii Essays in biochemistry 62 (3), 467-481, 2018 | 155 | 2018 |
| POLG mutations and Alpers syndrome G Davidzon, M Mancuso, S Ferraris, C Quinzii, M Hirano, HL Peters, ... Annals of Neurology: Official Journal of the American Neurological …, 2005 | 145 | 2005 |
| Primary and secondary CoQ10 deficiencies in humans CM Quinzii, M Hirano Biofactors 37 (5), 361-365, 2011 | 137 | 2011 |
| Human CoQ_ {10} deficiencies CM Quinzii, A Naini, S DiMauro, M Hirano Biofactors 32 (1-4), 113-118, 2008 | 135 | 2008 |
| X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1 CM Quinzii, TH Vu, KC Min, K Tanji, S Barral, RP Grewal, A Kattah, ... The American Journal of Human Genetics 82 (1), 208-213, 2008 | 134 | 2008 |
Luis Carlos López (ORCID: 0000-000...Professor, University of GranadaBestätigte E-Mail-Adresse bei ugr.es
