Correlation between genetic and geographic structure in Europe O Lao, TT Lu, M Nothnagel, O Junge, S Freitag-Wolf, A Caliebe, ... Current Biology 18 (16), 1241-1248, 2008 | 615 | 2008 |
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease ARJ Curtis, C Fey, CM Morris, LA Bindoff, PG Ince, PF Chinnery, ... Nature genetics 28 (4), 350-354, 2001 | 604 | 2001 |
The epidemiology of pathogenic mitochondrial DNA mutations PF Chinnery, MA Johnson, TM Wardell, R Singh‐Kler, C Hayes, ... Annals of Neurology: Official Journal of the American Neurological …, 2000 | 561 | 2000 |
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. N Howell, LA Bindoff, DA McCullough, I Kubacka, J Poulton, D Mackey, ... American journal of human genetics 49 (5), 939, 1991 | 475 | 1991 |
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study A Suomalainen, JM Elo, KH Pietiläinen, AH Hakonen, K Sevastianova, ... The Lancet Neurology 10 (9), 806-818, 2011 | 466 | 2011 |
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 |
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases C Tzoulis, BA Engelsen, W Telstad, J Aasly, M Zeviani, S Winterthun, ... Brain 129 (7), 1685-1692, 2006 | 378 | 2006 |
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin AH Hakonen, S Heiskanen, V Juvonen, I Lappalainen, PT Luoma, ... The American Journal of Human Genetics 77 (3), 430-441, 2005 | 358 | 2005 |
An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria MA Birchmachin, HL Briggs, AA Saborido, LA BINDoFF, DM Turnbull Biochemical medicine and metabolic biology 51 (1), 35-42, 1994 | 332 | 1994 |
Mitochondrial function in Parkinson's disease LA Bindoff, MM BIRCH, NEF CARTIDGE LANCET 1, 49-49, 1989 | 315 | 1989 |
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations S Winterthun, G Ferrari, L He, RW Taylor, M Zeviani, DM Turnbull, ... Neurology 64 (7), 1204-1208, 2005 | 281 | 2005 |
Risk of developing a mitochondrial DNA deletion disorder PF Chinnery, S DiMauro, S Shanske, EA Schon, M Zeviani, C Mariotti, ... The Lancet 364 (9434), 592-596, 2004 | 279 | 2004 |
Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease LA Bindoff, MA Birch-Machin, NEF Cartlidge, WD Parker Jr, DM Turnbull Journal of the neurological sciences 104 (2), 203-208, 1991 | 273 | 1991 |
Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease C Dölle, I Flønes, GS Nido, H Miletic, N Osuagwu, S Kristoffersen, ... Nature communications 7 (1), 13548, 2016 | 255 | 2016 |
A multicenter study on Leigh syndrome: disease course and predictors of survival K Sofou, IFM De Coo, P Isohanni, E Ostergaard, K Naess, L De Meirleir, ... Orphanet journal of rare diseases 9, 1-16, 2014 | 247 | 2014 |
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. K Weber, JN Wilson, L Taylor, E Brierley, MA Johnson, DM Turnbull, ... American journal of human genetics 60 (2), 373, 1997 | 244 | 1997 |
Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism T Fiskerstrand, DHB Brahim, S Johansson, A M'zahem, BI Haukanes, ... The American Journal of Human Genetics 87 (3), 410-417, 2010 | 238 | 2010 |
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis ZA Jenkins, M van Kogelenberg, T Morgan, A Jeffs, R Fukuzawa, E Pearl, ... Nature genetics 41 (1), 95-100, 2009 | 216 | 2009 |
Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form J Poulton, ME Deadman, L Bindoff, K Morten, J Land, G Brown Human Molecular Genetics 2 (1), 23-30, 1993 | 211 | 1993 |
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism. LA Bindoff, N Howell, J Poulton, DA McCullough, KJ Morten, ... Journal of Biological Chemistry 268 (26), 19559-19564, 1993 | 208 | 1993 |