| 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 |
| 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 |
| 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 |
| 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 |
| Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD A Pyle, T Foltynie, W Tiangyou, C Lambert, SM Keers, LM Allcock, ... Annals of neurology 57 (4), 564-567, 2005 | 209 | 2005 |
| Mitochondrial DNA and survival after sepsis: a prospective study SV Baudouin, D Saunders, W Tiangyou, JL Elson, J Poynter, A Pyle, ... The Lancet 366 (9503), 2118-2121, 2005 | 205 | 2005 |
| Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies) LVB Anderson, RM Harrison, R Pogue, E Vafiadaki, C Pollitt, K Davison, ... Neuromuscular disorders 10 (8), 553-559, 2000 | 200 | 2000 |
| 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 |
| 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 | 175 | 2014 |
| Exome sequencing in undiagnosed inherited and sporadic ataxias A Pyle, T Smertenko, D Bargiela, H Griffin, J Duff, M Appleton, ... Brain 138 (2), 276-283, 2015 | 155 | 2015 |
| Recent advances in understanding the molecular genetic basis of mitochondrial disease K Thompson, JJ Collier, RIC Glasgow, FM Robertson, A Pyle, EL Blakely, ... Journal of inherited metabolic disease 43 (1), 36-50, 2020 | 149 | 2020 |
| EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia V Boczonadi, JS Müller, A Pyle, J Munkley, T Dor, J Quartararo, I Ferrero, ... Nature communications 5 (1), 4287, 2014 | 147 | 2014 |
| Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ... The American Journal of Human Genetics 95 (6), 708-720, 2014 | 140 | 2014 |
| Riboflavin-responsive and-non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency RKJ Olsen, E Koňaříková, TA Giancaspero, S Mosegaard, V Boczonadi, ... The American journal of human genetics 98 (6), 1130-1145, 2016 | 136 | 2016 |
| Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA JW Yarham, TN Lamichhane, A Pyle, S Mattijssen, E Baruffini, F Bruni, ... PLoS genetics 10 (6), e1004424, 2014 | 134 | 2014 |
| Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early‐stage Parkinson's disease A Pyle, R Brennan, M Kurzawa‐Akanbi, A Yarnall, A Thouin, ... Annals of neurology 78 (6), 1000-1004, 2015 | 129 | 2015 |
| Genetic heterogeneity of motor neuropathies B Bansagi, H Griffin, RG Whittaker, T Antoniadi, T Evangelista, J Miller, ... Neurology 88 (13), 1226-1234, 2017 | 121 | 2017 |
| SPG7 mutations are a common cause of undiagnosed ataxia G Pfeffer, A Pyle, H Griffin, J Miller, V Wilson, L Turnbull, K Fawcett, ... Neurology 84 (11), 1174-1176, 2015 | 121 | 2015 |
| 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 | 121 | 2012 |
| Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy R Horvath, JP Kemp, HAL Tuppen, G Hudson, A Oldfors, SKN Marie, ... Brain 132 (11), 3165-3174, 2009 | 121 | 2009 |
Patrick F ChinneryUniversity of Cambridge在 medschl.cam.ac.uk 的电子邮件经过验证
