Newcastle University

Roles and Responsibilities

Head, Mitochondrial Diagnostic Service
Co-ordinating Consultant Clinical Scientist, NCG Rare Mitochondrial Disease Service for Adults and Children
Deputy DPD (Projects) - M.Res. in Medical and Molecular Biosciences

Qualifications

BSc (Hons) Biochemistry (University of Newcastle upon Tyne)
PhD (University of Newcastle upon Tyne)

Memberships

FRCPath
British Society for Human Genetics
Society for the Study of Inborn Errors of Metabolism

Research Interests

My research activities are focussed around three main areas. First, my laboratory provides a national diagnostic service offering specialist biochemical and molecular genetic testing for patients with suspected mitochondrial disorders. This diagnostic work links very closely with my second area of interest - the study of disease pathogenesis, underlying molecular mechanisms and the correlation between mitochondrial genotype and clinical phenotype. Finally, we are exploiting many of the molecular assays set up to investigate patient samples to study the role of somatic mitochondrial DNA mutations in ageing and cancer, with a particular emphasis on their accumulation in human colonic crypt stem cells (see Taylor et al. (2003) J. Clin. Invest. 112, 1351-1360)

Funding

The Wellcome Trust
Muscular Dystrophy Campaign
Food Standards Agency
Newcastle upon Tyne Hospitals NHS Foundation Trust
Tyneside Leukaemia Research Association
SPARKS
Department of Health

Undergraduate Teaching

BMS3013 Diseases of the Human Nervous System (Module Leader)

Postgraduate Teaching

M.Res. in Medical and Molecular Biosciences
NEU801 Scientific basis of neurological disease

• Zsurka G, Baron M, Stewart JD, Kornblum C, Bös M, Sassen R, Taylor RW, Elger CE, Chinnery PF, Kunz WS. Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. Journal of Neuropathology and Experimental Neurology 2008, 67(9), 857-866.
• Betts-Henderson J, Jaros E, Krishnan KJ, Perry RH, Reeve AK, Schaefer AM, Taylor RW, Turnbull DM. Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions. Neuropathology and Applied Neurobiology 2009, 35(1), 120-124.
• Stewart JD, Hudson G, Yu Wai Man P, Blakeley EL, He L, Horvath R, Maddison P, Wright A, Griffiths PG, Turnbull DM, Taylor RW, Chinnery PF. OPA1 in multiple mitochondrial DNA deletion disorders. Neurology 2008,71 22 1829-1831.
• Blakely E, He L, Gardner JL, Hudson G, Walter J, Hughes I, Turnbull DM, Taylor RW. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscular Disorders 2008, 18(7), 557-560.
• Bandelt HJ, Salas A, Taylor RW, Yao YG. Exaggerated status of novel and pathogenic mtDNA sequence variants due to inadequate database searches. Human Mutation 2009, 30(2), 191-196.
• Stewart JD, Tennant S, Powell H, Pyle A, Blakeley EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AAM, Roxburgh R, Livingston J, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.. Journal of Medical Genetics 2008, 46(3), 209-214.
• Kyriakouli D, Boesch P, Taylor R, Lightowlers R. Progress and prospects: Gene therapy for mitochondrial DNA disease. Gene Therapy 2008. , 15(14), 1017-1023.
• Swalwell H, Blakely E, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns D, Turnbull DM, Haller R, Davidson M, Taylor RW. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one?. European Journal of Human Genetics 2008, 16(10), 1265-1274.
• Rorbach J, Yusoff A, Tuppen H, Abg-Kamaludin D, Chrzanowska-Lightowlers Z, Taylor R, Turnbull D, Mcfarland R, Lightowlers R. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation. Nucleic Acids Research 2008, 36(9), 3065-3074.
• Downham E, Winterthun S, Nakkestad HL, Hirth A, Halvorsen T, Taylor RW, Bindoff LA. A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscular Disorders 2008, 18(4), 310-314.
• Betts J, Barron MJ, Needham SJ, Schaefer AM, Taylor RW, Turnbull DM. Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation. Neurology 2008, 70(15), 1290-1292.
• Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, Wanrooij S, Spelbrink JN, Lightowlers RN, Turnbull DM. What causes mitochondrial DNA deletions in human cells?. Nature Genetics 2008. , 40(3), 275-279.
• McDonald SAC, Greaves LC, Gutierrez-Gonzalez L, Rodriguez-Justo M, Deheragoda M, Leedham SJ, Taylor RW, Lee CY, Preston SL, Lovell M, Hunt T, Elia G, Oukrif D, Harrison R, Novelli MR, Mitchell I, Stoker DL, Turnbull DM, Jankowski JAZ, Wright NA. Mechanisms of Field Cancerization in the Human Stomach: The Expansion and Spread of Mutated Gastric Stem Cells. Gastroenterology 2008, 134(2), 500-510.
• Hudson G, Amati-Bonneau P, Blakely E, Stewart J, He L, Schaefer A, Griffiths P, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull D, Chinnery P, Taylor R. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance. Brain 2008, 131(2), 329-337.
• McFarland R, Hudson G, Taylor RW, Green SH, Hodges S, McKiernan PJ, Chinnery PF, Ramesh V. Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). Archives of Disease in Childhood 2008, 93(2), 151-153.
• McFarland R, Swalwell H, Blakely EL, He L, Groen EJ, Turnbull DM, Bushby KMD, Taylor RW. The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy. Neuromuscular Disorders 2008, 18(1), 63-67.
• Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM. Prevalence of mitochondrial DNA disease in adults. Annals of Neurology 2008, 63(1), 35-39.
• Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, Donovan OD, Findlay F, Taylor RW, De Silva R, Chinnery PF. Mutations in POLG1 can present with autosomal recessive axonal Charcot-Marie-Tooth disease. Archives of Neurology 2008, 65(1), 133-136.
• Tuppen HAL, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW. Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations. Journal of Medical Genetics 2008, 45(1), 55-61.
• Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Diabetes and deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?. Diabetes Care 2007, 30(9), 2238-2239.
• Krishnan KJ, Bender A, Taylor RW, Turnbull DM. A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Analytical Biochemistry 2007, 370(1), 127-129.
• Sebastiani M, Giordano C, Travaglini C, Zani M, Nediani C, Borchi E, Mancini M, Taylor R, Gallo P, D'Amati G. Induction of mitochondrial biogenesis is a maladaptive mechanism in cardiac remodeling. Virchows Archiv: an international journal of pathology 2007, 451(2), 483-483.
• Taylor RW, Turnbull DM. Mitochondrial DNA Transcription: Regulating the Power Supply. Cell 2007. , 130(2), 211-213.
• Greaves LC, Preston SL, Tadrous PJ, Taylor RW, Barron MJ, Oukrif D, Leedham SJ, Deheragoda M, Sasieni P, Novelli MR, Jankowski JAZ, Turnbull DM, Wright NA, McDonald SAC. Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. Proceedings of the National Academy of Sciences of the United States of America 2006, 103(3), 714-719.
• Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, Jaros E, Hersheson JS, Betts J, Klopstock T, Taylor RW, Turnbull DM. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nature Genetics 2006, 38(5), 515-517.
• Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nature Reviews Genetics 2005. , 6(5), 389-402.
• McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AAM, Foster SM, Tuppen HAL, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW. Homoplasmy, heteroplasmy, and mitochondrial dystonia. Neurology 2007, 69(9), 911-916.
• Deschauer M, Tennant S, Rokicka A, He L, Kraya T, Turnbull DM, Zierz S, Taylor RW. MELAS associated with mutations in the POLG1 gene. Neurology 2007, 68(20), 1741-1742.
• Gardner JL, Craven L, Turnbull DM, Taylor RW. Experimental Strategies Towards Treating Mitochondrial DNA Disorders. Bioscience Reports 2007, 27(1-3), 139-150.
• Blakely EL, Swalwell H, Petty RKH, McFarland R, Turnbull DM, Taylor RW. Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation. Journal of Neurology 2007. , 254(9), 1283-1285.
• Phoenix C, Taylor GA, Hartley J, Nixon H, Ince PG, Shaw PJ, Turnbull DM, Taylor RW. Investigation of the mitochondrial genome in patients with atypical motor neuron disease. Journal of Neurology 2007, 254(4), 482-487.
• Elson JL, Turnbull DM, Taylor RW. Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach. Biochemical Journal 2007, 404(2), e3-5.
• Vondracek P, Hermanova M, Vodickova K, Fajkusova L, Blakely EL, He L, Turnbull DM, Taylor RW, Tajsharghi H. An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI. European Journal of Paediatric Neurology 2007, 11(6), 381-384.
• Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Biochemical Assays of Respiratory Chain Complex Activity. Methods in Cell Biology 2007. , 80, 93-119.
• Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF. Mutation of the linker region of the polymerase γ-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism. Archives of Neurology 2007, 64(4), 553-557.
• McFarland R, Taylor RW, Turnbull DM. Mitochondrial Disease-Its Impact, Etiology, and Pathology. Current Topics in Developmental Biology 2007. , 77, 113-155.
• Pyle A, Taylor RW, Durham SE, Deschauer M, Schaefer AM, Samuels DC, Chinnery PF. Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation. Journal of Medical Genetics 2007, 44(1), 69-74.
• Morris AAM, Appleton RE, Power B, Isherwood DM, Abernethy LJ, Taylor RW, Turnbull DM, Verhoeven NM, Salomons GS, Jakobs C. Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. Journal of Inherited Metabolic Disease 2007. London: Springer, 30(1), 100-100.
• Gupta S, Wyllie J, Wright C, Turnbull D, Taylor R. Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period. Journal of Maternal-Fetal and Neonatal Medicine 2006, 19(9), 587-589.
• Taivassalo T, Gardner JL, Taylor RW, Schaefer AM, Newman J, Barron MJ, Haller RG, Turnbull DM. Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain 2006, 129(12), 3391-3401.
• Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, Prokisch H, Lochmuller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Brain 2006, 129(7), 1674-1684.
• Deschauer M, Swalwell H, Strauss M, Zierz S, Taylor RW. Novel mitochondrial transfer RNA^Phe gene mutation associated with late-onset neuromuscular disease. Archives of Neurology 2006, 63(6), 902-905.
• Brown D, Herbert M, Lamb V, Chinnery PF, Taylor R, Lightowlers R, Craven L, Cree L, Gardner JL, Turnbull DM. Transmission of mitochondrial DNA disorders: possibilities for the future. Lancet 2006, 368(9529), 87-89.
• Longley MJ, Clark S, Man CYW, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia. American Journal of Human Genetics 2006, 78(6), 1026-1034.
• Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He L-P, Blakely E, Turnbull DM, Chinnery PF. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Neurology 2006, 66(9), 1439-1441.
• Pye D, Kyriakouli DS, Taylor GA, Johnson R, Elstner M, Meunier B, Chrzanowska-Lightowlers ZMA, Taylor RW, Turnbull DM, Lightowlers RN. Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants. Nucleic Acids Research 2006, 34(13), e95.
• Greaves LC, Taylor RW. Mitochondrial DNA mutations in human disease. IUBMB Life 2006. , 58(3), 143-151.
• Pagnamenta AT, Taanman J-W, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, Rahman S. Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Human Reproduction 2006, 21(10), 2467-2473.
• Betts J, Jaros E, Perry RH, Schaefer AM, Taylor RW, Abdel-All Z, Lightowlers RN, Turnbull DM. Molecular neuropathology of MELAS: Level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathology and Applied Neurobiology 2006, 32(4), 359-373.
• Blakely EL, Rennie KJ, Jones L, Elstner M, Chrzanowska-Lightowlers ZMA, White CB, Shield JPH, Pilz DT, Turnbull DM, Poulton J, Taylor RW. Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. Pediatric Research 2006, 59(3), 440-444.
• Borthwick GM, Taylor RW, Walls TJ, Tonska K, Taylor GA, Shaw PJ, Ince PG, Turnbull DM. Motor neuron disease in a patient with a mitochondrial tRNA^lle mutation. Annals of Neurology 2006, 59(3), 570-574.
• Swalwell H, Deschauer M, Hartl H, Strauss M, Turnbull DM, Zierz S, Taylor RW. Pure myopathy associated with a novel mitochondrial tRNA gene mutation. Neurology 2006, 66(3), 447-449.
• Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM. Sequence variation in mitochondrial complex I genes: Mutation or polymorphism?. Journal of Medical Genetics 2006, 43(2), 175-179.
• Barron MJ, Chinnery PF, Howel D, Blakely EL, Schaefer AM, Taylor RW, Turnbull DM. Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy. Neuromuscular Disorders 2005, 15(11), 768-774.
• Blakely EL, Mitchell AL, Fisher N, Meunier B, Nijtmans LG, Schaefer AM, Jackson MJ, Turnbull DM, Taylor RW. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. FEBS Journal 2005, 272(14), 3583-3592.
• Walker M, Taylor RW, Turnbull DM. Mitochondrial diabetes. Diabetic Medicine 2005. , 22(4), 18-20.
• Schaefer AM, Blakely EL, Griffiths PG, Turnbull DM, Taylor RW. Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis. Muscle and Nerve 2005, 32(1), 104-107.
• Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations. Neurology 2005, 64(7), 1204-1208.
• Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. European Journal of Human Genetics 2005, 13(5), 623-627.
• Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. Neuromuscular Disorders 2003, 13(7-8), 568-572.
• Taylor RW. Gene therapy for the treatment of mitochondrial DNA disorders. Expert Opinion on Biological Therapy 2005. ,5 2 183-194.
• Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AAM, Charlton CPJ, Turnbull DM, Bindoff LA. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. European Journal of Human Genetics 2004,12 6 509-512.
• McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscular Disorders 2004,14 2 162-166.
• McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM. Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough. Trends in Genetics 2004,20 12 591-596.
• Taylor RW, Schaefer AM, McDonnell MT, Petty RKH, Thomas AM, Blakely EL, Hayes CM, McFarland R, Turnbull DM. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene. Neurology 2004,62 8 1420-1423.
• Blakely EL, Poulton J, Pike M, Wojnarowska F, Turnbull PM, McFarland R, Taylor RW. Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation. Journal of the Neurological Sciences 2004,225 1-2 99-103.
• Deschauer M, Krasnianski A, Zierz S, Taylor RW. False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by southern blot analysis: The role of neutral polymorphisms. Genetic Testing 2005,8 4 395-399.
• McFarland R, Schaefer AM, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM. Familial Myopathy: New Insights into the T14709C Mitochondrial tRNA Mutation. Annals of Neurology 2004, 55(4), 478-484.
• Blakely EL, He L, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM. Mitochondrial DNA deletion in identical twins. Journal of Medical Genetics 2004, 41(2), e19.
• Taylor RW, He L, Proctor SJ, Middleton PG, Turnbull DM. Mitochondrial DNA mutations in the haematopoietic system.. Leukemia 2004. , 18(1), 169-170.
• Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW. Mutations of the mitochondrial ND1 gene as a cause of MELAS. Journal of Medical Genetics 2004,41 10 784-789.
• Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl H-HM, Ryan MT, Thorburn DR. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. Journal of Clinical Investigation 2004,114 6 837-845.
• Deschauer M, Chinnery PF, Schaefer AM, Turnbull DM, Taylor RW, Zierz S, Shanske S, DiMauro S, Mojamaa K, Wilichowski E, Thorburn DR. No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation. Journal of Neurology, Neurosurgery and Psychiatry 2004,75 8 1204-1205.
• McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Nonivasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. European Journal of Human Genetics 2004,12 9 778-781.
• McFarland R, Taylor RW, Elson JL, Lightowlers RN, Turnbull DM, Howell N, Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Guan M-X, Liu L-L, Wong L-JC. Proving pathogenicity: When evolution is not enough. American Journal of Medical Genetics 2004. ,131 1 107-110.
• Bidooki S, Jackson MJ, Johnson MA, Chrzanowska-Lightowlers ZMA, Taylor RW, Venables G, Lightowlers RN, Turnbull DM, Bindoff LA. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene. Neuromuscular Disorders 2004, 14(7), 417-420.
• Smith PM, Ross GF, Taylor RW, Turnbull DM, Lightowlers RN. Strategies for treating disorders of the mitochondrial genome. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6).2004,Nijmegen, Netherlands:Elsevier BV
• Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. The diagnosis of mitochondrial muscle disease. Neuromuscular Disorders 2004. ,14 4 237-245.
• Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF. The epidemiology of mitochondrial disorders - past, present and future. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6).2004,Nijmegen, Netherlands:Elsevier BV
• Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmuller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JNS, Turnbull DM. Risk of developing a mitochondrial DNA deletion disorder. The Lancet 2004, 364(9434), 592-596.
• Smith PM, Ross GF, Wardell TM, Taylor RW, Turnbull DM, Lightowlers RN. The use of PNAs and their derivatives in mitochondrial gene therapy. Letters in Peptide Science 2003,10 3-4 353-360.
• Taylor RW, Giordano C, Davidson MM, D'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. Journal of the American College of Cardiology 2003,41 10 1786-1796.
• Deschauer M, Chrzanowska-Lightowlers ZMA, Biekmann E, Pourfarzam M, Taylor RW, Turnbull DM, Zierz S. A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency. Molecular Genetics and Metabolism 2003,79 2 124-128.
• McGregor A, Smith PM, Ross GF, Taylor RW, Turnbull DM, Lightowlers RN. Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase γ in vitro is not impaired. Biochimica et Biophysica Acta - Gene Structure and Expression 2003,1629 1-3 73-83.
• Wardell TM, Ferguson E, Chinnery PF, Borthwick GM, Taylor RW, Jackson G, Craft A, Lightowlers RN, Howell N, Turnbull DM. Changes in the human mitochondrial genome after treatment of malignant disease. Mutation Research: Fundamental and Molecular Mechanisms of Mutagenesis 2003,525 1-2 19-27.
• Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F, Turnbull DM. Genotypes from patients indicate no paternal mitochondrial DNA contribution. Annals of Neurology 2003,54 4 521-524.
• McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KMD, Turnbull DM, Shaw PJ. Investigation of mitochondrial function in hereditary spastic paraparesis. NeuroReport 2003,14 3 485-488.
• Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW. Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. Neurology 2003,60 8 1357-1359.
• Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TBL, Turnbull DM. Mitochondrial DNA mutations in human colonic crypt stem cells. Journal of Clinical Investigation 2003, 112(9), 1351-1360.
• Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 2003,60 8 1354-1356.
• He, L., Luo, L., Proctor, S. J., Middleton, P. G., Blakely, E. L., Taylor, R. W., Turnbull, D. M. Somatic mitochondrial DNA mutations in adult-onset leukaemia. Leukemia 2003, 17(12), 2487-2491.
• Taylor RW, Jobling MS, Turnbull DM, Chinnery PF. Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy. Journal of Medical Genetics 2003,40 7 -.
• He LP, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Research 2002,30 14 -.
• Menzies FM, Cookson MR, Taylor RW, Turnbull DM, Chrzanowska-Lightowlers ZMA, Dong L, Figlewicz DA, Shaw PJ. Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. Brain 2002,125 7 1522-1533.
• McFarland R, Clark KM, Morris AAM, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nature Genetics 2002, 30(2), 145-146.
• Turnbull DM, Lightowlers RN, Taylor RW. Current perspectives in the treatment of mitochondrial DNA diseases. Functional Neurology 2001, 16(4), 89-96.
• Counter PR, Hilton MP, Webster D, Wardell TM, Taylor RW, Besley G, Turnbull DM, Robinson PJ. Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect. Journal of Laryngology and Otology 2001, 115(9), 730-732.
• Taylor RW, Singh-Kler R, Hayes CM, Smith PEM, Turnbull DM. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Annals of Neurology 2001,50 1 104-107.
• Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology 2000,48 2 188-193.
• Chinnery PF, Taylor GA, Howell N, Andrews RM, Morris CM, Taylor RW, McKeith IG, Perry RH, Edwardson JA, Turnbull DM. Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies. Neurology 2000,55 2 302-304.
• Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZMA, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. American Journal of Human Genetics 1999,64 5 1330-1339.
• Chinnery, P.F., Zwijnenburg, P.J.G., Walker, M., Howell, N., Taylor, R.W., Lightowlers, R.N., Bindoff, L. and Turnbull, D.M. Non-random tissue distribution of mutant mtDNA. Am. J. Med. Genet. 1999, 85, 498-501.
• P. F. Chinnery, M. A. Johnson, R. W. Taylor, R. N. Lightowlers and D. M. Turnbull. A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis. Annals of Neurology 1997, 41, 408-410.
• R. W. Taylor, P. F. Chinnery, D. M. Turnbull and R. N. Lightowlers. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nature Genetics 1997, 15, 212-215.
• R. W. Taylor, P. F. Chinnery, K. M. Clark, R. N. Lightowlers and D. M. Turnbull. Treatment of mitochondrial disease. Journal of Bioenergetics and Biomembranes 1997, 29, 195-205.
• Whittaker RG, Schaefer AM, Taylor RW, Turnbull DM. Differential diagnosis in ptosis and ophthalmoplegia: Mitochondrial disease or myasthenia? [11]. Journal of Neurology 2007. , 254(8), 1138-1139.
• Newkirk, J.E., Taylor, R.W., Howell, N., Bindoff, L.A., Chinnery, P.F., Alberti, K.G.M.M., Turnbull, D.M. and Walker, M. Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population.. Diabetic. Med. 1997, 14, 457-460.
• Birch-Machin, M.A., Marsac, C., Ponsot, G., Parfait, B., Taylor, R.W., Rustin, P. and Munnich, A. Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain.. Biochem. Biophys. Res. Commun. 1996, 220, 57-62.
• Taylor, R.W., Birch-Machin, M.A., Schaefer, J., Taylor, L., Shakir, R., Ackrell, B.A.C., Cochran, B., Bindoff, L.A., Jackson, M.J., Griffiths, P. and Turnbull, D.M. Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia.. Ann. Neurol. 1996, 39, 224-232.
• Armstrong, M., Haldane, F., Taylor, R.W., Alberti, K.G.M.M., Turnbull, D.M. and Walker, M. Human Insulin receptor substrate-1: variant sequences in familial non-insulin dependent diabetes mellitus.. Diabetic Med. 1996, 13, 133-138.
• Taylor, R.W., Printz, R.L., Armstrong, M., Granner, D.K., Alberti, K.G.M.M., Turnbull, D.M. and Walker, M. Variant sequences of the Hexokinase II gene in familial NIDDM.. Diabetologia 1996, 39, 322-328.
• Walker, M., Taylor, R.W., Stewart, M.W., Bindoff, L.A., Shearing, P.A., Anyaoku, V., Jackson, M.J., Humphriss, D.B., Johnston, D.G., Alberti, K.G.M.M. and Turnbull, D.M. Insulin and Proinsulin secretion in subjects with abnormal glucose tolerance and a mitochondrial tRNALeu(UUR) mutation.. Diabetes Care 1995, 18, 1507-1509.
• Walker, M., Taylor, R.W., Stewart, M.W., Bindoff, L.A., Jackson, M.J., Alberti, K.G.M.M. and Turnbull, D.M. Insulin sensitivity and mitochondrial gene mutation.. Diabetes Care 1995, 18, 273-274.
• Morris, A.A.M., Taylor, R.W., Lightowlers, R.N., Aynsley-Green, A., Bartlett, K. and Turnbull, D.M. Medium-chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.. Hum. Mol. Genet. 1995, 4, 747-749.
• Morris, A.A.M., Taylor, R.W., Birch-Machin, M.A., Jackson, M.J., Coulthard, M.G., Bindoff, L.A., Welch, R.J., Howell, N. and Turnbull, D.M. Neonatal Fanconi syndrome due to deficiency of complex III of the mitochondrial respiratory chain.. Paediatr. Nephrol. 1995, 9, 407-411.
• Ruitenbeek, W., Poels, P.J.E., Turnbull, D.M., Garavaglia, B., Chalmers, R.A., Taylor, R.W. and Gabreels, F.J.M. Rhabdomyolysis and acute encephalopathy in late onset medium-chain acyl-CoA dehydrogenase deficiency.. J. Neurol. Neurosurg. Psychiatry 1995, 58, 209-214.
• Taylor, R.W., Stewart, M.W., Avery, P.J., Humphriss, D.B., Alberti, K.G.M.M., Turnbull, D.M. and Walker, M. Apolipoprotein E and familial non-insulin dependent diabetes mellitus.. Lancet 1994, 344, 406.
• Taylor, R.W., Birch-Machin, M.A., Bartlett, K., Lowerson, S.A., and Turnbull, D.M. The control of mitochondrial oxidations by complex III in rat muscle and liver mitochondria: implications for our understanding of mitochondrial cytopathies in man.. J. Biol. Chem. 1994, 269, 3523-3528.
• Taylor, R.W., Birch-Machin, M.A., Lowerson, S., Sherratt, H.S.A., West, I.C., Bartlett, K. and Turnbull, D.M. Defects of oxidative phosphorylation in man.. Biochem. Soc. Trans. 1993, 21, 804-807.
• Taylor, R.W., Birch-Machin, M.A., Bartlett, K. and Turnbull, D.M. (1993). Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the mitochondrial respiratory chain.. Biochim. Biophys. Acta 1993, 1181, 261-265.
• Taylor, R.W., Jackson, S., Pourfarzam, M., Bartlett, K. and Turnbull, D.M. Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets.. J. Inher. Metab. Dis. 1992, 15, 727-732.
• Craig K, Young MJ, Blakely EL, Longley MJ, Turnbull DM, Copeland WC, Taylor RW. A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase gamma subunits. Mitochondrion 2012, 12(2), 313-319.
• Horvath PO, Czermin B, Gulati S, Pyle A, Hassani A, Foley C, Taylor RW, Chinnery PF. Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene. In: Journal of Neurology, Neurosurgery and Psychiatry: Association of British Neurologists Annual Meeting. 2012, Gateshead, UK: BMJ Group.
• Lax NZ, Hepplewhite PD, Reeve AK, Nesbitt V, McFarland R, Jaros E, Taylor RW, Turnbull DM. Cerebellar Ataxia in Patients With Mitochondrial DNA Disease: A Molecular Clinicopathological Study. Journal of Neuropathology and Experimental Neurology 2012, 71(2), 148-161.
• van der Walt EM, Smuts I, Taylor RW, Elson JL, Turnbull DM, Louw R, van der Westhuizen FH. Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease. European Journal of Human Genetics 2012, (epub ahead of print).
• Perli E, Giordano C, Tuppen HAL, Montopoli M, Montanari A, Orlandi M, Pisano A, Catanzaro D, Caparrotta L, Musumeci B, Autore C, Morea V, Di Micco P, Campese AF, Leopizzi M, Gallo P, Francisci S, Frontali L, Taylor RW, d'Amati G. Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T > C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy. Human Molecular Genetics 2012, 21(1), 85-100.
• Lax NZ, Campbell GR, Reeve AK, Ohno N, Zambonin J, Blakely EL, Taylor RW, Bonilla E, Tanji K, DiMauro S, Jaros E, Lassmann H, Turnbull DM, Mahad DJ. Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome. Archives of Neurology 2012, 69(4), 490-499.
• Greaves LC, Reeve AK, Taylor RW, Turnbull DM. Mitochondrial DNA and disease. Journal of Pathology 2012, 226(2), 274-286.
• Bates MG, Nesbitt V, Kirk R, He L, Blakely EL, Alston CL, Brodlie M, Hasan A, Taylor RW, McFarland R. Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: A prospective study. International Journal of Cardiology 2012, 155(2), 305–306.
• Read JL, Whittaker RG, Miller N, Clark S, Taylor R, McFarland R, Turnbull D. Prevalence and severity of speech and swallowing difficulties in mitochondrial disease. International Journal Language Communication Disorders 2012, 47(1), 106-111.
• Bathgate D, Yu-Wai-Man P, Webb B, Taylor RW, Fowler B, Chinnery PF. Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations. Journal of Neurology, Neurosurgery and Psychiatry 2012, 83(1), 115-115.
• Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM. Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. Brain 2012, 135(1), 62-71.
• Elson JL, Sweeney MG, Procaccio P, Yarham JW, Salas A, Kong QP, van der Westhuizen FH, Pitceathly RDS, Thorburn DR, Lott MT, Wallace DC, Taylor RW, McFarland R. Towards a mtDNA locus-specific mutation database using the LOVD platform. Human Mutation 2012, (epub ahead of print).
• Blackwood JK, Williamson SC, Greaves LC, Wilson L, Rigas AC, Sandher R, Pickard RS, Robson CN, Turnbull DM, Taylor RW, Heer R. In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells. Journal of Pathology 2011, 225(2), 181-188.
• Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R. A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations. Human Mutation 2011, 32(11), 1319-1325.
• Fratter C, Raman P, Alston C, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in muscle. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• Murphy JL, Shang E, Taivassalo T, Haller RG, Taylor RW, Turnbull DM. Exercise training in patients with mitochondrial myopathy: the analysis of COX-intermediate fibres. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• Alston CL, He LP, Morris AA, Hughes I, de Goede C, Turnbull DM, McFarland R, Taylor RW. Maternally inherited mitochondrial DNA disease in consanguineous families. European Journal of Human Genetics 2011, 19(12), 1226-1229.
• Rygiel K, Miller J, Taylor RW, Turnbull DM. Mitochondrial abnormalities in inclusion body myositis. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• Say RE, Whittaker RG, Turnbull HE, McFarland R, Taylor RW, Turnbull DM. Mitochondrial disease in pregnancy: a systematic review. Obstetric Medicine 2011, 4(3), 90-94.
• Evans J, Uusimaa J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Kelly D, Samyn M, Rahman S, Stewart H, Morris AMM, Seller A, Fratter C, Taylor RW, Poulton J. Mitochondrial DNA depletion syndrome due to mutations in the MPV17 gene. In: Journal of Medical Genetics: British Human Genetics Conference. 2011, Warwick, Coventry: BMJ Group.
• Spendiff S, Horvath R, Lochmüller H, Reza M, Murphy JL, Taylor RW, Turnbull DM. Mitochondrial DNA mutations in satellite cells. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• Nesbitt V, Whittaker R, Turnbull D, McFarland R, Taylor R. mtDNA disease for the neurologist. Future Neurology 2011, 6(1), 63-80.
• Thelwall PE, Taylor R, Marshall SM. Non-invasive Investigation of Kidney Disease in Type 1 Diabetes by Magnetic Resonance Imaging. Diabetologia 2011, 54(9), 2421-2429.
• Stewart JD, Schoeler S, Sitarz KS, Horvath R, Hallmann K, Pyle A, Yu-Wai-Man P, Taylor RW, Samuels DC, Kunz WS, Chinnery PF. POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. Biochimica et Biophysica Acta: Molecular Basis of Disease 2011, 1812(3), 321-325.
• Hallsworth K, Fattakhova G, Hollingsworth K, Thoma C, Moore S, Taylor R, Day CP, Trenell MI. Resistance exercise improves liver lipid, fat oxidation and glucose control in adults with non-alchoholic fatty liver disease independent of weight loss. In: Journal of Hepatology: 46th Annual Meeting of the European Association for the Study of the Liver (EASL). 2011, Berlin, Germany: Elsevier BV.
• Taylor RW, Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Thorburn DR. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke X, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. European Journal of Human Genetics 2011, 19(7), 769-775.
• Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. RRM2B mutations are frequent in familial peo with multiple mtDNA deletions. Neurology 2011, 76(23), 2032-2034.
• Savelev S, Perry J, Bourke S, Taylor R, Fisher A, Corris P, Jary H, Petrie M, DeSoyza A. Volatile biomarkers of Pseudomonas aeruginosa in cystic fibrosis and non cystic fibrosis bronchiectasis. Letters in Applied Microbiology 2011, 52(6), 610-613.
• Ratnaike TE, Krishnan KJ, Taylor RW, Turnbull DM. Why does mitochondrial disease progress? From molecular genetics to patient phenotype. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• Greaves L, Barron M, Plusa S, Kirkwood T, Mathers J, Taylor R, Turnbull D. Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts. Experimental Gerontology 2010, 45(7-8), 573-579.
• Jakovljevic DG, Papakonstantinou L, Taylor R, MacGowan G, Trenell MI. Every day physical activity protects against the age related decline in aerobic function but not cardiac pumping capability in normoglycemic women. In: Diabetes and Cardiovascular Disease EASD Study Group. 2010, Belgrade, Serbia.
• Fellous TG, McDonald SAC, Burkert J, Humphries A, Islam S, De-Alwis NMW, Gutierrez-Gonzalez L, Tadrous PJ, Elia G, Kocher HM, Bhattacharya S, Mears L, El-Bahrawy M, Turnbull DM, Taylor RW, Greaves LC, Chinnery PF, Day CP, Wright NA, Alison MR. A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues. Stem Cells 2009, 27(6), 1410-1420.
• Blakely EL, Trip SA, Swalwell H, He LP, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW. A New Mitochondrial Transfer RNA(Pro) Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features. Archives of Neurology 2009, 66(3), 399-402.
• Abu-Amero K, Al-Dhalaan H, Bohlega S, Hellani A, Taylor R. A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: A case report. Journal of Medical Case Reports 2009, 3(1), 77.
• Aitken H, Gorman G, McFarland R, Roberts M, Taylor RW, Turnbull DM. Clinical Reasoning: Blurred vision and dancing feet Restless legs syndrome presenting in mitochondrial disease. Neurology 2009. , 72(18), E86-E90.
• Fellous TG, Islam S, Tadrous PJ, Elia G, Kocher HM, Bhattacharya S, Mears L, Turnbull DM, Taylor RW, Greaves LC, Chinnery PF, Taylor G, McDonald SAC, Wright NA, Alison MR. Locating the Stem Cell Niche and Tracing Hepatocyte Lineages in Human Liver. Hepatology 2009, 49(5), 1655-1663.
• Greaves LC, Mathers JC, Taylor RW, Turnbull DM. Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: Link to colon cancer?. Proceedings of the National Academy of Sciences of the United States of America 2009. , 106(22), E57-E57.
• Reeve AK, Krishnan KJ, Taylor G, Elson JL, Bender A, Taylor RW, Morris CM, Turnbull DM. The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons. Aging Cell 2009, 8(4), 496-498.
• Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Urine Heteroplasmy is the Best Predictor of Clinical Outcome in the m.3243A > G mtDNA Mutation. Neurology 2009. Philadelphia, PA: Lippincott Williams & Wilkins, 72(6), 568-569.
• Schaefer AM, McFarland R, Chinnery PF, Taylor RW, Turnbull DM. Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply. Annals of Neurology 2008. DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 USA: John Wiley & Sons, Inc., 64(4), 471-472.
• Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, O'Donovan DG, Findlay LJ, Taylor RW, De Silva R, Chinnery PF. POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. Archives of Neurology 2008, 65(1), 133-136.
• Murphy JL, Blakely EL, Schaefer AM, He L, Wyrick P, Haller RG, Taylor RW, Turnbull DM, Taivassalo T. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain 2008, 131(11), 2832-2840.
• Blakely EL, He L, Gardner JL, Walter J, Hughes I, Turnbull DM, Taylor RW. Fatal mitochondrial DNA depletion myopathy due to novel mutations in the TK2 gene. Journal of Inherited Metabolic Disease 2006, 29, 120-120.
• Arasaradnam RP, Greaves LC, Commane D, Mathers JC, Taylor RW, Turnbull DM. Mitochondrial DNA (MTDNA) mutations in human colonic crypts: A novel biomarker of colorectal cancer. GUT 2006, 55(S2), A24.
• Schaefer AM, Taivassalo T, Gardner JL, Blakely EL, Barron MJ, Taylor RW, Haller RG, Turnbull DM. Treating the untreatable: Exercise induced stem cell activation as a novel treatment for mitochondrial myopathy. In: Annual Meeting of the Association of British Neurologists. 2005, Belfast, Northern Ireland: Journal of Neurology, Neurosurgery and Psychiatry, BMJ Group.
• Chinnery P, DiMauro S, Zeviani M, Lombes A, Lochmuller H, Thorburn D, Bindoff LA, Poulton J, Deschauer M, Taylor RW, Matthews JNS, Turnbull DM. The risk of developing a mitochondrial DNA deletion disorder. In: Journal of Medical Genetics: British Human Genetics Conference. 2004, York, UK: BMJ Group.
• Wardell, T. M., Ferguson, E., Chinnery, P. F., Borthwick, G. M., Taylor, R. W., Jackson, G., Craft, A. W., Lightowlers, R. N., Howell, N., Turnbull, D. M. Changes in the human mitochondrial genome after treatment of malignant disease. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2003, 525(1-2), 19-27.
• McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. In: American Journal of Human Genetics: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, California, USA: Cell Press.
• Schaefer AM, McFarland R, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM. Familial mitochondrial myopathy: New insights into the T14709C mitochondrial tRNA mutation. In: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, CA: American Journal of Human Genetics, Cell Press.
• Bigger B, Taylor RW, Turnbull DM, Lightowlers RN. Gene therapy for mitochondrial DNA disorders. In: Holt, I.J, ed. Genetics of Mitochondrial Diseases. Oxford, UK: Oxford University Press, 2003, pp.327-344.
• Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TBL, Turnbull DM. Mitochondrial DNA mutations and aging in human colonic crypts and stem cells. In: American Journal of Human Genetics: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, California, USA: Cell Press.
• Taylor RW, Schaefer AM, McFarland R, Maddison P, Turnbull DM. A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy. Neuromuscular Disorders 2002, 12(7-8), 659-664.
• Taylor R. Blood pressure and cardiovascular risk in the HOPE study. Lancet 2002, 359(9323), 2117-2118.
• Turnbull DM, Taylor RW, McFarland RM, Schaefer AM. Defects of the mitochondrial genome. SAGGI - Child Development and Disabilities 2002, 28(1), 75-82.
• Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L. GRACILE syndrome is caused by a point mutation in BCS1L suggesting a new role of the BCS1L in iron metabolism. In: American Journal of Human Genetics: 52nd Annual Meeting of the American Society of Human Genetics. 2002, Baltimore, Maryland, USA: Cell Press.
• Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. American Journal of Human Genetics 2002, 71(4), 863-876.
• McFarland R, Taylor RW, Chinnery PF, Lightowlers RN, Turnball DM. Health, disability and death: A new spectrum of disease for homoplasmic mutations of mitochondrial DNA. In: Journal of Neurology, Neurosurgery and Psychiatry: Proceedings of the Association of British Neurologists. 2002, Oxford: BMJ Group.
• Taylor RW, Morris AAM, Hutchinson M, Turnbull DM. Leigh disease associated with a novel mitochondrial DNA ND5 mutation. European Journal of Human Genetics 2002, 10(2), 141-144.
• Schaefer AM, Taylor RW, Macfarland RM, Chinnery PF. Mitochondrial disease and symptom progression: A complex management issue. In: Journal of Neurology, Neurosurgery and Psychiatry: Proceedings of the Association of British Neurologists. 2002, Oxford: BMJ Group.
• Perucca-Lostanlen D, Taylor RW, Narbonne H, de Camaret BM, Hayes CM, Saunieres A, Paquis-Flucklinger V, Turnbull DM, Vialettes B, Desnuelle C. Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness. Biochimica et Biophysica Acta: Molecular Basis of Disease 2002, 1588(3), 210-216.
• Carey PE, Halliday J, Snaar JEM, Morris P, Taylor R. Post-prandial substrate storage in Type 2 diabetes. In: Diabetologia: 38th EASD Annual Meeting of the European Association for the Study of Diabetes. 2002, Budapest, Hungary: Springer.
• Pandit R, Taylor R. Quality Assurance in eye screening. Diabetic Medicine 2002, 19(4), 285-291.
• Pandit RJ, Taylor R. Quality assurance in screening for sight-threatening diabetic retinopathy. Diabetic Medicine 2002, 19(4), 285-291.
• McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurology 2002, 1(6), 343-351.
• Taylor RW, Wardell TM, Smith PM, Muratovska A, Murphy MP, Turnbull DM, Lightowlers RN. An antigenomic strategy for treating heteroplasmic mtDNA disorders. Advanced Drug Delivery Reviews 2001, 49(1-2), 121-125.
• Taylor RW, Singh-Kler R, Hayes CM, Smith PEM, Turnbull DM. Annals 25th anniversary. Annals of Neurology 2001, 50(1), 1-3.
• Counter PR, Hilton MP, Webster D, Wardell T, Taylor RW, Besley G, Turnbull DM, Robinson PJ. Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect. Journal of Laryngology and Otology 2001, 115(9), 730-732.
• Taylor RW, Wardell TM, Connolly BA, Turnbull DM, Lightowlers RN. Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates. Nucleic Acids Research 2001, 29(16), 3404-3412.
• Taylor RW, Wardell TM, Lightowlers RN, Turnbull DM. Molecular basis for treatment of mitochondrial myopathies. Neurological Science 2001, 21(3), 909-912.
• Muratovska A, Lightowlers RN, Taylor RW, Wilce JA, Murphy MP. Targeting large molecules to mitochondria. Advanced Drug Delivery Reviews 2001, 49(1-2), 189-198.
• Muratovska A, Lightowlers RN, Taylor RW, Turnbull DM, Smith RAJ, Wilce JA, Martin SW, Murphy MP. Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: Implications for mitochondrial DNA replication, expression and disease. Nucleic Acids Research 2001, 29(9), 1852-1863.
• Taylor RW, Taylor GA, Durham SE, Turnbull DM. The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Research 2001, 29(15), e74.
• Schaefer AM, Taylor RW, Turnbull DM. The mitochondrial genome and mitochondrial muscle disorders. Current Opinion in Pharmacology 2001, 1(3), 288-293.
• Taylor RW, Wardell TM, Blakely EL, Borthwick GM, Brierley EJ, Turnbull DM. Analysis of Mitochondrial DNA Mutations. Methods in Molecular Medicine: Aging Methods and Protocols 2000, 38, 245-264.
• Taylor RW, Andrews RM, Chinnery PF, Turnbull DM. Analysis of mitochondrial DNA mutations: point mutations. Ageing Methods and Protocols Humana Press New Jersey 265-277 2000.
• Taylor RW, McGregor A, Lightowlers RN, Turnbull DM. Gene therapy for mitochondrial DNA defects. In: Ebadi, MS, ed. Mitochondrial Ubiquinone (Coenzyme Q10): biochemical, functional, medical and therapeutic aspects in human health and diseases. Prominent Press, Arizona, 2000.
• Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. In-vitro genetic modification of mitochondrial function. Human Reproduction 2000, 15(2), 79-85.
• Birch-Machin MA, Taylor RW, Cochran B, Ackrell BAC, Turnbull DM. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Annals of Neurology 2000, 48(3), 330-335.
• Taylor RW, Wardell TM, Lightowlers RN, Turnbull DM. Molecular basis for treatment of mitochondrial myopathies. Neurological Sciences 2000, 21(9), S909-S912.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid and delivery to human mitochondria. Gene Therapy 2000, 7(9), 813.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid delivery to human mitochondria (vol 6, pg 1919, 1999) Erratum. Gene Therapy 2000, 7(9), 813-813.
• Taylor R, Taylor G, Morris C, Edwardson J, Turnbull D. Diagnosis of mitochondrial disease: Assessment of mitochondrial DNA heteroplasmy in blood. Biochemical and Biophysical Research Communications 1998, 251(3), 883-887.