| A redox-sensitive peroxiredoxin that is important for longevity has tissue-and stress-specific roles in stress resistance M Oláhová, SR Taylor, S Khazaipoul, J Wang, BA Morgan, K Matsumoto, ... Proceedings of the National Academy of Sciences 105 (50), 19839-19844, 2008 | 170 | 2008 |
| Recent advances in understanding the molecular genetic basis of mitochondrial disease K Thompson, JJ Collier, RIC Glasgow, FM Robertson, A Pyle, EL Blakely, ... Journal of inherited metabolic disease, 2019 | 145 | 2019 |
| Mitochondrial OXPHOS Biogenesis: Co-Regulation of Protein Synthesis, Import, and Assembly Pathways JX Tang, K Thompson, RW Taylor, M Oláhová International Journal of Molecular Sciences 21 (11), 3820, 2020 | 115 | 2020 |
| LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population M Oláhová, SA Hardy, J Hall, JW Yarham, TB Haack, WC Wilson, ... Brain 138 (12), 3503-3519, 2015 | 105 | 2015 |
| Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ... The American Journal of Human Genetics 102 (3), 494-504, 2018 | 72 | 2018 |
| Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype CL Alston, AG Compton, LE Formosa, V Strecker, M Oláhová, TB Haack, ... The American Journal of Human Genetics 99 (1), 217-227, 2016 | 71 | 2016 |
| OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect K Thompson, N Mai, M Oláhová, F Scialó, LE Formosa, DA Stroud, ... EMBO molecular medicine 10 (11), 2018 | 69 | 2018 |
| Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies RG Feichtinger, M Oláhová, Y Kishita, C Garone, LS Kremer, M Yagi, ... The American Journal of Human Genetics 101 (4), 525-538, 2017 | 67 | 2017 |
| A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency CL Alston, CC Berti, EL Blakely, M Oláhová, L He, CJ McMahon, SE Olpin, ... Human genetics 134 (8), 869-879, 2015 | 58 | 2015 |
| A peroxiredoxin, PRDX‐2, is required for insulin secretion and insulin/IIS‐dependent regulation of stress resistance and longevity M Oláhová, EA Veal Aging cell 14 (4), 558-568, 2015 | 56 | 2015 |
| Defective mitochondrial protease LonP1 can cause classical mitochondrial disease B Peter, CL Waddington, M Oláhová, EW Sommerville, S Hopton, A Pyle, ... Human molecular genetics 27 (10), 1743-1753, 2018 | 51 | 2018 |
| A recurrent mitochondrial p. Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype CL Alston, C Howard, M Oláhová, SA Hardy, L He, PG Murray, ... Journal of medical genetics 53 (9), 634-641, 2016 | 48 | 2016 |
| Bi-allelic mutations in phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function Z Xu, WS Lo, DB Beck, LA Schuch, M Oláhová, R Kopajtich, YE Chong, ... The American Journal of Human Genetics 103 (1), 100-114, 2018 | 42 | 2018 |
| Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease V Boczonadi, MS King, AC Smith, M Olahova, B Bansagi, A Roos, ... Genetics in Medicine 20 (10), 1224, 2018 | 40 | 2018 |
| A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency M Oláhová, TB Haack, CL Alston, JAC Houghton, L He, AAM Morris, ... European Journal of Human Genetics 23 (7), 935, 2015 | 40 | 2015 |
| Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria M Oláhová, K Thompson, SA Hardy, IA Barbosa, A Besse, ... Journal of inherited metabolic disease 40 (1), 121-130, 2017 | 30 | 2017 |
| Genome-wide screening identifies new genes required for stress-induced phase 2 detoxification gene expression in animals HM Crook-McMahon, M Oláhová, EL Button, JJ Winter, EA Veal BMC biology 12 (1), 64, 2014 | 30 | 2014 |
| Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy EW Sommerville, XL Zhou, M Oláhová, J Jenkins, L Euro, S Konovalova, ... Human molecular genetics 28 (2), 258-268, 2018 | 25 | 2018 |
| Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency ST Ahmed, CL Alston, S Hopton, L He, IP Hargreaves, G Falkous, ... Scientific reports 7 (1), 15676, 2017 | 24 | 2017 |
| Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. M Oláhová, CC Berti, JJ Collier, CL Alston, E Jameson, SA Jones, ... | 23 | 2019 |
