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 | 921 | 2015 |
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 | 221 | 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 | 203 | 2016 |
Quantitative 3D mapping of the human skeletal muscle mitochondrial network AE Vincent, K White, T Davey, J Philips, RT Ogden, C Lawless, C Warren, ... Cell reports 26 (4), 996-1009. e4, 2019 | 160 | 2019 |
Mitochondrial disease: genetics and management YS Ng, DM Turnbull Journal of neurology 263 (1), 179-191, 2016 | 150 | 2016 |
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 | 119 | 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 | 115 | 2018 |
Mitochondrial donation—how many women could benefit? GS Gorman, JP Grady, Y Ng, AM Schaefer, RJ McNally, PF Chinnery, ... New England Journal of Medicine 372 (9), 885-887, 2015 | 93 | 2015 |
Consensus-based statements for the management of mitochondrial stroke-like episodes YS Ng, LA Bindoff, GS Gorman, R Horvath, T Klopstock, M Mancuso, ... Wellcome open research 4, 2019 | 87 | 2019 |
Clinical, genetic, and radiological features of extrapyramidal movement disorders in mitochondrial disease MH Martikainen, YS Ng, GS Gorman, CL Alston, EL Blakely, AM Schaefer, ... JAMA neurology 73 (6), 668-674, 2016 | 85 | 2016 |
Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review ME Anagnostou, YS Ng, RW Taylor, R McFarland Epilepsia 57 (10), 1531-1545, 2016 | 82 | 2016 |
Epilepsy in adults with mitochondrial disease: a cohort study RG Whittaker, HE Devine, GS Gorman, AM Schaefer, R Horvath, Y Ng, ... Annals of neurology 78 (6), 949-957, 2015 | 79 | 2015 |
Solid organ transplantation in primary mitochondrial disease: proceed with caution S Parikh, A Karaa, A Goldstein, YS Ng, G Gorman, A Feigenbaum, ... Molecular genetics and metabolism 118 (3), 178-184, 2016 | 71 | 2016 |
Sudden adult death syndrome in m. 3243A> G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults YS Ng, JP Grady, NZ Lax, JP Bourke, CL Alston, SA Hardy, G Falkous, ... European heart journal 37 (32), 2552-2559, 2016 | 70 | 2016 |
The maintenance of mitochondrial DNA integrity and dynamics by mitochondrial membranes J Chapman, YS Ng, TJ Nicholls Life 10 (9), 164, 2020 | 60 | 2020 |
MT-ND5 mutation exhibits highly variable neurological manifestations at low mutant load YS Ng, NZ Lax, P Maddison, CL Alston, EL Blakely, PD Hepplewhite, ... EBioMedicine 30, 86-93, 2018 | 56 | 2018 |
Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy EW Sommerville, YS Ng, CL Alston, C Dallabona, M Gilberti, L He, ... JAMA neurology 74 (6), 686-694, 2017 | 56 | 2017 |
Safety of drug use in patients with a primary mitochondrial disease: an international Delphi‐based consensus MC De Vries, DA Brown, ME Allen, L Bindoff, GS Gorman, A Karaa, ... Journal of Inherited Metabolic Disease 43 (4), 800-818, 2020 | 55 | 2020 |
Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease NZ Lax, J Grady, A Laude, F Chan, PD Hepplewhite, G Gorman, ... Neuropathology and applied neurobiology 42 (2), 180-193, 2016 | 53 | 2016 |
Pseudo‐obstruction, stroke, and mitochondrial dysfunction: a lethal combination YS Ng, C Feeney, AM Schaefer, CE Holmes, P Hynd, CL Alston, JP Grady, ... Annals of neurology 80 (5), 686-692, 2016 | 51 | 2016 |