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 | 916 | 2015 |
Disturbed mitochondrial dynamics and neurodegenerative disorders F Burté, V Carelli, PF Chinnery, P Yu-Wai-Man Nature reviews neurology 11 (1), 11-24, 2015 | 680 | 2015 |
Mitochondrial optic neuropathies–disease mechanisms and therapeutic strategies P Yu-Wai-Man, PG Griffiths, PF Chinnery Progress in retinal and eye research 30 (2), 81-114, 2011 | 645 | 2011 |
Leber hereditary optic neuropathy PYW Man, DM Turnbull, PF Chinnery Journal of medical genetics 39 (3), 162-169, 2002 | 578 | 2002 |
The epidemiology of Leber hereditary optic neuropathy in the North East of England PYW Man, PG Griffiths, DT Brown, N Howell, DM Turnbull, PF Chinnery The American Journal of Human Genetics 72 (2), 333-339, 2003 | 552 | 2003 |
A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy T Klopstock, P Yu-Wai-Man, K Dimitriadis, J Rouleau, S Heck, M Bailie, ... Brain 134 (9), 2677-2686, 2011 | 547 | 2011 |
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement S Bannwarth, S Ait-El-Mkadem, A Chaussenot, EC Genin, ... Brain 137 (8), 2329-2345, 2014 | 513 | 2014 |
Inherited mitochondrial optic neuropathies P Yu-Wai-Man, PG Griffiths, G Hudson, PF Chinnery Journal of medical genetics 46 (3), 145-158, 2009 | 460 | 2009 |
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 | 436 | 2010 |
Universal heteroplasmy of human mitochondrial DNA BAI Payne, IJ Wilson, P Yu-Wai-Man, J Coxhead, D Deehan, R Horvath, ... Human molecular genetics 22 (2), 384-390, 2013 | 414 | 2013 |
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA–haplogroup background G Hudson, V Carelli, L Spruijt, M Gerards, C Mowbray, A Achilli, A Pyle, ... The American Journal of Human Genetics 81 (2), 228-233, 2007 | 405 | 2007 |
Gene–environment interactions in Leber hereditary optic neuropathy MA Kirkman, P Yu-Wai-Man, A Korsten, M Leonhardt, K Dimitriadis, ... Brain 132 (9), 2317-2326, 2009 | 391 | 2009 |
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 359 | 2021 |
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy C Giordano, L Iommarini, L Giordano, A Maresca, A Pisano, ML Valentino, ... Brain 137 (2), 335-353, 2014 | 287 | 2014 |
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution G Elachouri, S Vidoni, C Zanna, A Pattyn, H Boukhaddaoui, K Gaget, ... Genome research 21 (1), 12-20, 2011 | 256 | 2011 |
Steroids for traumatic optic neuropathy P Yu‐Wai‐Man, PG Griffiths Cochrane Database of Systematic Reviews, 2013 | 248 | 2013 |
Artificial intelligence to detect papilledema from ocular fundus photographs D Milea, RP Najjar, Z Jiang, D Ting, C Vasseneix, X Xu, M Aghsaei Fard, ... New England Journal of Medicine 382 (18), 1687-1695, 2020 | 238 | 2020 |
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder G Hudson, S Keers, PYW Man, P Griffiths, K Huoponen, ML Savontaus, ... The American Journal of Human Genetics 77 (6), 1086-1091, 2005 | 215 | 2005 |
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations P Yu-Wai-Man, PG Griffiths, A Burke, PW Sellar, MP Clarke, L Gnanaraj, ... Ophthalmology 117 (8), 1538-1546. e1, 2010 | 205 | 2010 |
International consensus statement on the clinical and therapeutic management of Leber hereditary optic neuropathy V Carelli, M Carbonelli, IF De Coo, A Kawasaki, T Klopstock, WA Lagrèze, ... Journal of Neuro-Ophthalmology 37 (4), 371-381, 2017 | 204 | 2017 |