| Mitochondria: impaired mitochondrial translation in human disease V Boczonadi, R Horvath The international journal of biochemistry & cell biology 48, 77-84, 2014 | 217 | 2014 |
| EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia V Boczonadi, JS Müller, A Pyle, J Munkley, T Dor, J Quartararo, I Ferrero, ... Nature communications 5 (1), 4287, 2014 | 145 | 2014 |
| Riboflavin-responsive and-non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency RKJ Olsen, E Koňaříková, TA Giancaspero, S Mosegaard, V Boczonadi, ... The American journal of human genetics 98 (6), 1130-1145, 2016 | 130 | 2016 |
| Genetic heterogeneity of motor neuropathies B Bansagi, H Griffin, RG Whittaker, T Antoniadi, T Evangelista, J Miller, ... Neurology 88 (13), 1226-1234, 2017 | 119 | 2017 |
| Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy DN Herrmann, R Horvath, JE Sowden, M Gonzales, A Sanchez-Mejias, ... The American Journal of Human Genetics 95 (3), 332-339, 2014 | 113 | 2014 |
| 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 | 90 | 2014 |
| Mitochondrial DNA transcription and translation: clinical syndromes V Boczonadi, G Ricci, R Horvath Essays in biochemistry 62 (3), 321-340, 2018 | 89 | 2018 |
| Periplakin-dependent re-organisation of keratin cytoskeleton and loss of collective migration in keratin-8-downregulated epithelial sheets HA Long, V Boczonadi, L McInroy, M Goldberg, A Määttä Journal of cell science 119 (24), 5147-5159, 2006 | 88 | 2006 |
| The role of tRNA synthetases in neurological and neuromuscular disorders V Boczonadi, MJ Jennings, R Horvath FEBS letters 592 (5), 703-717, 2018 | 87 | 2018 |
| SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance M Schiff, A Veauville-Merllié, CH Su, A Tzagoloff, M Rak, ... New England Journal of Medicine 374 (8), 795-797, 2016 | 87 | 2016 |
| A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies M Bartsakoulia, A Pyle, D Troncoso-Chandia, J Vial-Brizzi, MV Paz-Fiblas, ... Human molecular genetics 27 (7), 1186-1195, 2018 | 63 | 2018 |
| Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency V Boczonadi, PM Smith, A Pyle, A Gomez-Duran, U Schara, M Tulinius, ... Human molecular genetics 22 (22), 4602-4615, 2013 | 60 | 2013 |
| Cytolinker cross-talk: periplakin N-terminus interacts with plectin to regulate keratin organisation and epithelial migration V Boczonadi, L McInroy, A Määttä Experimental cell research 313 (16), 3579-3591, 2007 | 54 | 2007 |
| Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy M Giunta, S Edvardson, Y Xu, M Schuelke, A Gomez-Duran, V Boczonadi, ... Human molecular genetics 25 (14), 2985-2996, 2016 | 48 | 2016 |
| Reversible infantile mitochondrial diseases V Boczonadi, B Bansagi, R Horvath Journal of Inherited Metabolic Disease 38, 427-435, 2015 | 48 | 2015 |
| 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), 1224-1235, 2018 | 40 | 2018 |
| Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency D Hathazi, H Griffin, MJ Jennings, M Giunta, C Powell, SF Pearce, ... The EMBO journal 39 (23), e105364, 2020 | 37 | 2020 |
| Mitochondrial dysfunction in liver failure requiring transplantation M Lane, V Boczonadi, S Bachtari, A Gomez-Duran, T Langer, A Griffiths, ... Journal of inherited metabolic disease 39, 427-436, 2016 | 35 | 2016 |
| Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT VCM Neeve, A Pyle, V Boczonadi, A Gomez-Duran, H Griffin, ... Mitochondrion 13 (6), 743-748, 2013 | 34 | 2013 |
| Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome GM McMacken, S Spendiff, RG Whittaker, E O’Connor, RM Howarth, ... Human molecular genetics 28 (14), 2339-2351, 2019 | 33 | 2019 |
