| Mitochondrial diseases GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ... Nature reviews Disease primers 2 (1), 1-22, 2016 | 1390 | 2016 |
| Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease GS Gorman, AM Schaefer, Y Ng, N Gomez, EL Blakely, CL Alston, ... Annals of neurology 77 (5), 753-759, 2015 | 929 | 2015 |
| Multi-system neurological disease is common in patients with OPA1 mutations P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco, AF Wright, ... Brain 133 (3), 771-786, 2010 | 440 | 2010 |
| Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody M Hutchinson, P Waters, J McHugh, G Gorman, S O’riordan, S Connolly, ... Neurology 71 (16), 1291-1292, 2008 | 380 | 2008 |
| Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies RW Taylor, A Pyle, H Griffin, EL Blakely, J Duff, L He, T Smertenko, ... Jama 312 (1), 68-77, 2014 | 372 | 2014 |
| Mitochondrial diseases: hope for the future OM Russell, GS Gorman, RN Lightowlers, DM Turnbull Cell 181 (1), 168-188, 2020 | 300 | 2020 |
| mt DNA heteroplasmy level and copy number indicate disease burden in m. 3243A> G mitochondrial disease JP Grady, SJ Pickett, YS Ng, CL Alston, EL Blakely, SA Hardy, CL Feeney, ... EMBO molecular medicine 10 (6), e8262, 2018 | 226 | 2018 |
| The spectrum of mitochondrial ultrastructural defects in mitochondrial myopathy AE Vincent, YS Ng, K White, T Davey, C Mannella, G Falkous, C Feeney, ... Scientific reports 6 (1), 30610, 2016 | 204 | 2016 |
| Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history RT Murphy, J Mogensen, K McGarry, A Bahl, A Evans, E Osman, P Syrris, ... Journal of the American College of Cardiology 45 (6), 922-930, 2005 | 204 | 2005 |
| Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance G Pfeffer, GS Gorman, H Griffin, M Kurzawa-Akanbi, EL Blakely, I Wilson, ... Brain 137 (5), 1323-1336, 2014 | 173 | 2014 |
| Topoisomerase 3α is required for decatenation and segregation of human mtDNA TJ Nicholls, CA Nadalutti, E Motori, EW Sommerville, GS Gorman, S Basu, ... Molecular cell 69 (1), 9-23. e6, 2018 | 134 | 2018 |
| Disease progression in patients with single, large-scale mitochondrial DNA deletions JP Grady, G Campbell, T Ratnaike, EL Blakely, G Falkous, V Nesbitt, ... Brain 137 (2), 323-334, 2014 | 128 | 2014 |
| The minimum prevalence of CADASIL in northeast England SK Narayan, G Gorman, RN Kalaria, GA Ford, PF Chinnery Neurology 78 (13), 1025-1027, 2012 | 124 | 2012 |
| Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3 R Horvath, B Czermin, S Gulati, S Demuth, G Houge, A Pyle, C Dineiger, ... Journal of Neurology, Neurosurgery & Psychiatry 83 (2), 174-178, 2012 | 124 | 2012 |
| Mitochondrial disease in adults: recent advances and future promise YS Ng, LA Bindoff, GS Gorman, T Klopstock, C Kornblum, M Mancuso, ... The Lancet Neurology 20 (7), 573-584, 2021 | 121 | 2021 |
| Phenotypic heterogeneity in m. 3243A> G mitochondrial disease: the role of nuclear factors SJ Pickett, JP Grady, YS Ng, GS Gorman, AM Schaefer, IJ Wilson, ... Annals of clinical and translational neurology 5 (3), 333-345, 2018 | 118 | 2018 |
| The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene P Reilich, R Horvath, S Krause, N Schramm, DM Turnbull, M Trenell, ... Journal of neurology 258, 1987-1997, 2011 | 115 | 2011 |
| Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial K Okkersen, C Jimenez-Moreno, S Wenninger, F Daidj, J Glennon, ... The Lancet Neurology 17 (8), 671-680, 2018 | 106 | 2018 |
| Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics RDS Pitceathly, C Smith, C Fratter, CL Alston, L He, K Craig, EL Blakely, ... Brain 135 (11), 3392-3403, 2012 | 102 | 2012 |
| The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO C Fratter, GS Gorman, JD Stewart, M Buddles, C Smith, J Evans, A Seller, ... Neurology 74 (20), 1619-1626, 2010 | 97 | 2010 |
Robert McFarlandNewcastle UniversityGeverifieerd e-mailadres voor ncl.ac.uk
