| Mitochondrial diseases GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ... Nature reviews Disease primers 2 (1), 1-22, 2016 | 1432 | 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 | 961 | 2015 |
| Prevalence of mitochondrial DNA disease in adults AM Schaefer, R McFarland, EL Blakely, L He, RG Whittaker, RW Taylor, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 716 | 2008 |
| Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of … G Hudson, P Amati-Bonneau, EL Blakely, JD Stewart, L He, AM Schaefer, ... Brain 131 (2), 329-337, 2008 | 493 | 2008 |
| Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene R Horvath, G Hudson, G Ferrari, N Fütterer, S Ahola, E Lamantea, ... Brain 129 (7), 1674-1684, 2006 | 452 | 2006 |
| 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 | 449 | 2010 |
| A neurological perspective on mitochondrial disease R McFarland, RW Taylor, DM Turnbull The Lancet Neurology 9 (8), 829-840, 2010 | 382 | 2010 |
| 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 | 380 | 2014 |
| The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m. 3243A> G mutation—implications for diagnosis and management V Nesbitt, RDS Pitceathly, DM Turnbull, RW Taylor, MG Sweeney, ... Journal of Neurology, Neurosurgery & Psychiatry 84 (8), 936-938, 2013 | 269 | 2013 |
| The diagnosis of mitochondrial muscle disease RW Taylor, AM Schaefer, MJ Barron, R McFarland, DM Turnbull Neuromuscular Disorders 14 (4), 237-245, 2004 | 255 | 2004 |
| 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 | 228 | 2018 |
| Mutations of the mitochondrial ND1 gene as a cause of MELAS DM Kirby, R McFarland, A Ohtake, C Dunning, MT Ryan, C Wilson, ... Journal of medical genetics 41 (10), 784-789, 2004 | 214 | 2004 |
| Mitochondrial disease—its impact, etiology, and pathology R McFarland, RW Taylor, DM Turnbull Current topics in developmental biology 77, 113-155, 2007 | 210 | 2007 |
| 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 | 203 | 2016 |
| Mitochondrial tRNA mutations and disease JW Yarham, JL Elson, EL Blakely, R McFarland, RW Taylor Wiley Interdisciplinary Reviews: RNA 1 (2), 304-324, 2010 | 200 | 2010 |
| New treatments for mitochondrial disease—no time to drop our standards G Pfeffer, R Horvath, T Klopstock, VK Mootha, A Suomalainen, S Koene, ... Nature Reviews Neurology 9 (8), 474-481, 2013 | 196 | 2013 |
| Assigning pathogenicity to mitochondrial tRNA mutations: when ‘definitely maybe’is not good enough R McFarland, JL Elson, RW Taylor, N Howell, DM Turnbull TRENDS in Genetics 20 (12), 591-596, 2004 | 193 | 2004 |
| De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency R McFarland, DM Kirby, KJ Fowler, A Ohtake, MT Ryan, DJ Amor, ... Annals of Neurology: Official Journal of the American Neurological …, 2004 | 193 | 2004 |
| Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation R McFarland, KM Clark, AAM Morris, RW Taylor, S Macphail, ... Nature genetics 30 (2), 145-146, 2002 | 192 | 2002 |
| A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations JW Yarham, M Al‐Dosary, EL Blakely, CL Alston, RW Taylor, JL Elson, ... Human mutation 32 (11), 1319-1325, 2011 | 187 | 2011 |
Robert W TaylorNewcastle University在 ncl.ac.uk 的电子邮件经过验证
