Mitochondrial genetics PF Chinnery, G Hudson British medical bulletin 106 (1), 135-159, 2013 | 504 | 2013 |
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 |
Characterizing mild cognitive impairment in incident Parkinson disease: the ICICLE-PD study AJ Yarnall, DP Breen, GW Duncan, TK Khoo, SY Coleman, MJ Firbank, ... Neurology 82 (4), 308-316, 2014 | 476 | 2014 |
Inherited mitochondrial optic neuropathies P Yu-Wai-Man, PG Griffiths, G Hudson, PF Chinnery Journal of medical genetics 46 (3), 145-158, 2009 | 475 | 2009 |
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 |
Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy S Lesage, V Drouet, E Majounie, V Deramecourt, M Jacoupy, A Nicolas, ... The American Journal of Human Genetics 98 (3), 500-513, 2016 | 413 | 2016 |
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 | 411 | 2007 |
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden, R Kraaij, J Jankovic, ... Brain 140 (12), 3191-3203, 2017 | 390 | 2017 |
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease A Beilina, IN Rudenko, A Kaganovich, L Civiero, H Chau, SK Kalia, ... Proceedings of the National Academy of Sciences 111 (7), 2626-2631, 2014 | 378 | 2014 |
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 | 294 | 2014 |
Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia MJ Longley, S Clark, CYW Man, G Hudson, SE Durham, RW Taylor, ... The American Journal of Human Genetics 78 (6), 1026-1034, 2006 | 286 | 2006 |
Mitochondrial DNA polymerase-γ and human disease G Hudson, PF Chinnery Human molecular genetics 15 (suppl_2), R244-R252, 2006 | 274 | 2006 |
A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy D Hicks, A Sarkozy, N Muelas, K Köehler, A Huebner, G Hudson, ... Brain 134 (1), 171-182, 2011 | 252 | 2011 |
Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease A Pyle, H Anugrha, M Kurzawa-Akanbi, A Yarnall, D Burn, G Hudson Neurobiology of aging 38, 216. e7-216. e10, 2016 | 242 | 2016 |
Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21 Human molecular genetics 20 (2), 345-353, 2011 | 221 | 2011 |
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 | 219 | 2005 |
Epigenetics, epidemiology and mitochondrial DNA diseases PF Chinnery, HR Elliott, G Hudson, DC Samuels, CL Relton International journal of epidemiology 41 (1), 177-187, 2012 | 210 | 2012 |
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 | 210 | 2010 |
Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos VI Floros, A Pyle, S Dietmann, W Wei, WCW Tang, N Irie, B Payne, ... Nature cell biology 20 (2), 144-151, 2018 | 193 | 2018 |