Newcastle University

Qualifications

MBBS (Hons)
MD
PhD
FRCP

Research Interests

My major research interests are the role of mitochondrial DNA mutations in disease. Mitochondrial DNA disorders are a common group of inborn errors of metabolism and the diagnosis and management of patients with these defects has been a major interest of our group. More recently we have been exploring the role of mitochondrial abnormalities in neurodegenerative disease, ageing and cancer.

Projects

• A systems biology approach to understanding protein aggregation and its role in neurodegeneration
  Project Leader(s): Carole Proctor

• Picard M, Gentil BJ, McManus MJ, White K, St Louis K, Gartside SE, Wallace DC, Turnbull DM. Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle. Journal of Applied Physiology 2013, (epub ahead of print).
• Jones KL, Whittaker RG, Miller JA, Jakovljevic DG, Turnbull DM, Gorman GS. Can high intensity interval training improve functional capacity and clinical symptoms in inflammatory and mitochondrial myopathies?. In: 6th Annual Translational Research Conference. 2013, Oxford, UK.
• Bates MG, Hollingsworth KG, Newman J, Jakovljevic DG, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodeling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. European Heart Journal - Cardiovascular Imaging 2013, (epub ahead of print).
• Bates MG, Newman JH, Jakovljevic DG, Hollingsworth KG, Alston CL, Zalewski P, Klawe JJ, Blamire AM, Macgowan GA, Keavney BD, Bourke JP, Schaefer A, McFarland R, Newton JL, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>g-related mitochondrial disease. International Journal of Cardiology 2013, (epub ahead of print).
• Lax NZ, Gnanapavan S, Dowson SJ, Alston CL, He LP, Polvikoski TM, Jaros E, O'Donovan DG, Yarham JW, Turnbull DM, Dean AF, Taylor RW. Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNA(Glu) (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study. Journal of Neuropathology and Experimental Neurology 2013, 72(2), 164-175.
• Elson JL, Cadogan M, Apabhai S, Whittaker RG, Phillips A, Trennell MI, Horvath R, Taylor RW, McFarland R, McColl E, Turnbull DM, Gorman GS. Initial development and validation of a mitochondrial disease quality of life scale. Neuromuscular Disorders 2013, 23(4), 324-329.
• Picard M, Turnbull DM. Linking the Metabolic State and Mitochondrial DNA in Chronic Disease, Health, and Aging. Diabetes 2013, 62(3), 672-678.
• Pienaar I-S, Elson JL, Racca C, Nelson G, Turnbull DM, Morris CM. Mitochondrial Abnormality Associates with Type-Specific Neuronal Loss and Cell Morphology Changes in the Pedunculopontine Nucleus in Parkinson’s Disease. American Journal of Pathology 2013. In Press.
• Picard M, White K, Turnbull DM. Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study. Journal of Applied Physiology 2013, 114(2), 161-171.
• Bogle H, Lax NZ, Jaros E, McFarland R, Taylor RW, Turnbull DM. Neuropathological changes in Alpers' syndrome. In: 114th Meeting of the British Neuropathological Society: Symposium on Advances in Motor Neuron Diseases. 2013, London: Wiley-Blackwell Publishing Ltd.
• Yarham JW, Blakely EL, Alston CL, Roberts ME, Ealing J, Pal P, Turnbull DM, McFarland R, Taylor RW. The m.3291T > C mt-tRNA^Leu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease. Journal of the Neurological Sciences 2013, 325(1-2), 165-169.
• Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management. Journal of Neurology, Neurosurgery and Psychiatry 2013, 84(8), 936-938.
• 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.
• Pitceathly RDS, Smith C, Fratter C, Alston CL, He LP, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain 2012, 135(11), 3392-3403.
• Bates MGD, Bourke JP, Giordano C, d'Amati G, Turnbull DM, Taylor RW. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. European Heart Journal 2012, 33(24), 3023-3033.
• Hollingsworth KG, Gorman GS, Trenell MI, McFarland R, Taylor RW, Turnbull DM, Macgowan GA, Blamire AM, Chinnery PF. Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load. Neuromuscular Disorders 2012, 22(7), 592-596.
• 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.
• Ratnaike TE, Murphy J, Krishnan KJ, Taylor RW, Turnbull DM. Changes in mitochondrial function over time and with exercise in patients with mitochondrial disease. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• 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, 20, 650-656.
• Maddison J, Straub V, Lochmuller H, Turnbull D, Chinnery P, Trennell M, McFarland R, Gorman G, Horvath R, Busbhy K. Clinical research activity in Newcastle MRC centre. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Campbell GR, Kraytsberg Y, Krishnan KJ, Ohno N, Ziabreva I, Reeve A, Trapp BD, Newcombe J, Reynolds R, Lassmann H, Khrapko K, Turnbull DM, Mahad DJ. Clonally expanded mitochondrial DNA deletions within the choroid plexus in multiple sclerosis. Acta Neuropathologica 2012, 124(2), 209-220.
• Greaves LC, Elson JL, Nooteboom M, Grady JP, Taylor GA, Taylor RW, Mathers JC, Kirkwood TBL, Turnbull DM. Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations. PLoS Genetics 2012, 8(11), e1003082.
• Bates MGD, Hollingsworth KG, Newman J, Jakovljevic DG, Keavney BD, Blamire AM, MacGowan GA, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. In: Annual Conference of the British Cardiovascular Society (BCS). 2012, Manchester, UK: BMJ Group.
• Bates M, Hollingsworth K, Taylor R, Turnbull D, Trenell MI, Gorman G. Concentric remodeling and increased myocardial torsion in mitochondrial DNA point mutation carriers. In: 61st Annual Scientific Session and Expo of the American College of Cardiology (ACC). 2012, Chicago, Illinois, USA: Elsevier Inc.
• Murphy JL, Ratnaike TE, Shang ES, Falkous G, Blakely EL, Alston CL, Taivassalo T, Haller RG, Taylor RW, Turnbull DM. Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy. Neuromuscular Disorders 2012, 22(8), 690-698.
• Rowan SL, Rygiel K, Purves-Smith FM, Solbak NM, Turnbull DM, Hepple RT. Denervation Causes Fiber Atrophy and Myosin Heavy Chain Co-Expression in Senescent Skeletal Muscle. PLoS One 2012, 7(1), e29082.
• Yu-Wai-Man P, Gorman GS, Taylor RW, Turnbull DM. Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. British Journal of Ophthalmology 2012, 96(12), 1536-1536.
• Krishnan KJ, Nelson G, Romero NB, Ratnaike T, Blakely EL, Ziyadeh-Isleem A, Miller J, Murphy JL, Horvath R, Lochmuller H, Flanigan K, Turnbull DM, Guicheney P, Bitoun M, Taylor RW. DNM2 mutations cause multiple mtDNA deletions in muscle: A novel disorder of mtDNA maintenance. In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
• Bates MG, Hollingsworth KG, Newman J, Jakovljevic D, Dixon BJ, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Evidence of early cardiac impairment in m.3243A > G mutation carriers. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Piceathly RDS, Smith C, Fratter C, Blakely EL, Alston CL, Deschauer M, Horvath R, Hanna MG, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Newman J, Jakovljevic D, Bates MG, Turnbull DM, Galna B, Trenell MI, Gorman GS. Improving clinical trials evaluation: physiological and functional correlates in mitochondrial disease. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Williamson C, Blackwood JK, Greaves L, Wilson L, Pickard RS, Lako M, Robson CN, Turnbull DM, Taylor RW, Heer R. Lineage tracking in situ: Where are the prostate stem cells? What are they doing?. In: Annual Meeting of the Society of Academic and Research Surgery. 2012, Nottingham, UK: John Wiley & Sons Ltd.
• Murphy JL, Ratnaike TE, Shang E, Falkous G, Blakely EL, Alston CL, Hickman K, Chanter H, Taivassalo T, Haller RG, Taylor RW, Turnbull DM. Long term endurance training and deconditioning in patients with mitochondrial myopathy. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• 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.
• Picard M, Liang F, Hussain S, Goldberg P, Godin R, Danialou G, Chaturvedi R, Rygiel K, Matecki S, Jaber S, DesRosiers C, Karpati G, Ferri L, Turnbull DM, Taivassalo T, Petrof BJ. Metabolic Oversupply and Mitochondrial Dysfunction as a Cause of Diaphragmatic Failure after Mechanical Ventilation. In: Experimental Biology. 2012, San Diego, California, USA: Federation of American Societies for Experimental Biology.
• Lax NZ, Pienaar IS, Reeve AK, Hepplewhite PD, Jaros E, Taylor RW, Kalaria RN, Turnbull DM. Microangiopathy in the cerebellum of patients with mitochondrial DNA disease. Brain 2012, 135(6), 1736-1750.
• Campbell GR, Ohno N, Turnbull DM, Mahad DJ. Mitochondrial changes within axons in multiple sclerosis: an update. Current Opinion in Neurology 2012, 25(3), 221-230.
• Greaves LC, Reeve AK, Taylor RW, Turnbull DM. Mitochondrial DNA and disease. Journal of Pathology 2012, 226(2), 274-286.
• Krishnan KJ, Ratnaike TE, De Gruyter HLM, Jaros E, Turnbull DM. Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease. Neurobiology of Aging 2012, 33(9), 2210-2214.
• Campbell G, Krishnan KJ, Taylor RW, Turnbull DM. Mitochondrial DNA deletions do not have a replicative advantage in human muscle. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Inc.
• Picard M, Jung B, Liang F, Azuelos I, Hussain S, Goldberg P, Godin R, Danialou G, Chaturvedi R, Rygiel K, Matecki S, Jaber S, Des Rosiers C, Karpati G, Ferri L, Burelle Y, Turnbull DM, Taivassalo T, Petrof BJ. Mitochondrial Dysfunction and Lipid Accumulation in the Human Diaphragm during Mechanical Ventilation. American Journal of Respiratory and Critical Care Medicine 2012, 186(11), 1140-1149.
• 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.
• Reeve AK, Park TK, Jaros E, Campbell GR, Lax NZ, Hepplewhite PD, Krishnan KJ, Elson JL, Morris CM, McKeith IG, Turnbull DM. Relationship Between Mitochondria and α-Synuclein: A Study of Single Substantia Nigra Neurons. Archives of Neurology 2012, 69(3), 385-393.
• Murphy JL, Newman J, Ratnaike TE, Spendiff S, Falkous G, Blakely EL, Alston CL, Taylor RW, Trenell MI, Gorman GS, Turnbull DM. Resistance training in patients with mitochondrial myopathy. In: United Nations Environment Programme, Mineral Resources Forum. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• 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.
• Smith C, Evans J, Alston CL, Blakely EL, Seller A, Paceathly RDS, Schaefer AM, Turnbull DM, Taylor RW, Gorman GS, Poulton J, Fratter C. The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing. In: British Human Genetics Conference. 2012, Coventry, UK: BMJ Group.
• Nesbitt V, Pitceathly R, Cockell S, Poulton J, Rahman S, Hanna M, Turnbull D, McFarland R. The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne: Elsevier Ltd.
• Elstner M, Turnbull DM. Transcriptome analysis in mitochondrial disorders. Brain Research Bulletin 2012, 88(4), 285-293.
• Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Treatment for mitochondrial disorders. Cochrane Database of Systematic Reviews 2012, (4), CD004426.
• Neeve VCM, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombes A, Jardel C, Hirano M, DiMauro S, De Vries M, Smeitink J, Smits BW, de Coo IFM, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmuller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?. Brain 2012, 135(12), 3614-3626.
• 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.
• Nesbitt V, Pitceathly RDS, Rahman S, Hanna MG, McFarland R, Turnbull DM. A3243G - more than just MELAS!. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• Irving L, Alston C, Craven L, Herbert M, Turnbull DM. Analysis of mitochondrial DNA mutant loads in oocytes & preimplantation embryos for the 14709T > C & 14487T > C mtDNA mutations by pyrosequencing. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• Nesbitt V, Bates MGD, Turnbull DM, McFarland R. Diabetes is a risk factor for hypertension in adults with the m.3243A > G mitochondrial DNA mutation. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• Greaves LC, Barron MJ, Campbell-Shiel G, Kirkwood TBL, Turnbull DM. Differences in the accumulation of mitochondrial defects with age in mice and humans. Mechanisms of Ageing and Development 2011, 132(11-12), 588-591.
• 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.
• Elstner M, Morris CM, Heim K, Bender A, Mehta D, Jaros E, Klopstock T, Meitinger T, Turnbull DM, Prokisch H. Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death. Acta Neuropathologica 2011, 122(1), 75-86.
• Apabhai S, Gorman GS, Sutton L, Elson JL, Ploetz T, Turnbull DM, Trenell MI. Habitual Physical Activity in Mitochondrial Disease. PLoS One 2011, 6(7), e22294.
• Romaniuk L, Turnbull DM, Whittaker RG. Hyperventilation during the EEG is safe in mitochondrial disease. Clinical Neurophysiology 2011, 122(6), 1270-1271.
• Whittaker RG, Turnbull DM, Whittington MA, Cunningham MO. Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons. Brain 2011, 134(7), e180.
• Zambonin JL, Zhao C, Ohno N, Campbell GR, Engeham S, Ziabreva I, Schwarz N, Lee SE, Frischer JM, Turnbull DM, Trapp BD, Lassmann H, Franklin RJM, Mahad DJ. Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis. Brain 2011, 134(7), 1901-1913.
• Irving L, Craven L, Herbert M, Turnbull DM. Manipulation of human abnormally fertilized pronuclear stage zygotes following vitrification. 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.
• Campbell GR, Ziabreva I, Reeve AK, Krishnan KJ, Reynolds R, Howell O, Lassmann H, Turnbull DM, Mahad DJ. Mitochondrial DNA Deletions and Neurodegeneration in Multiple Sclerosis. Annals of Neurology 2011, 69(3), 481-492.
• Craven L, Elson JL, Irving L, Tuppen HA, Lister LM, Greggains GD, Byerley S, Murdoch AP, Herbert M, Turnbull D. Mitochondrial DNA disease: new options for prevention. Human Molecular Genetics 2011, 20(R2), R168-R174.
• 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.
• Lax NZ, Turnbull DM, Reeve AK. Mitochondrial mutations: newly discovered players in neuronal degeneration. Neuroscientist 2011, 17(6), 645-648.
• Nesbitt V, Whittaker R, Turnbull D, McFarland R, Taylor R. mtDNA disease for the neurologist. Future Neurology 2011, 6(1), 63-80.
• Elstner M, Muller SK, Leidolt L, Laub C, Krieg L, Schlaudraff F, Liss B, Morris C, Turnbull DM, Masliah E, Prokisch H, Klopstock T, Bender A. Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions. Molecular Brain 2011, 4, 43.
• Horvath R, Reilich R, Krause S, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• Turnbull DM. Preventing transmission of mitochondrial disease. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• 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.
• Nesbitt V, Pitceathly RDS, Rahman S, Poulton J, Turnbull DM, Hanna MG, McFarland R. The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmuller H. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. Journal of Neurology 2011, 258(11), 1987-1997.
• 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.
• Whittaker RG, Turnbull DM. A diagnostic tattoo. Clinical Genetics 2009, 75(1), 37-38.
• 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.
• 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.
• Gutierrez-Gonzalez L, Deheragoda M, Elia G, Leedham SJ, Shankar A, Imber C, Jankowski JA, Turnbull DM, Novelli M, Wright NA, McDonald SA. Analysis of the clonal architecture of the human small intestinal epithelium establishes a common stem cell for all lineages and reveals a mechanism for the fixation and spread of mutations. Journal of pathology 2009, 217(4), 489-496.
• McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. Journal of Internal Medicine 2009, 265(2), 210-228.
• 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.
• Wright AF, Murphy MP, Turnbull DM. Do organellar genomes function as long-term redox damage sensors?. Trends in Genetics 2009, 25(6), 253-261.
• Hogan V, White K, Edgar J, McGill A, Karim S, McLaughlin M, Griffiths I, Turnbull D, Nichols P. Increase in mitochondrial density within axons and supporting cells in response to demyelination in the Plp1 mouse model. Journal Neuroscience Research 2009, 87(2), 452-459.
• 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.
• Mahad DJ, Ziabreva I, Campbell G, Lax N, White K, Hanson PS, Lassmann H, Turnbull DM. Mitochondrial changes within axons in multiple sclerosis. Brain 2009, 132(5), 1161-1174.
• 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.
• White KE, Davies VJ, Hogan VE, Piechota MJ, Nichols PP, Turnbull DM, Votruba M. OPA1 Deficiency Associated with Increased Autophagy in Retinal Ganglion Cells in a Murine Model of Dominant Optic Atrophy. Investigative Ophthalmology & Visual Science 2009, 50(6), 2567-2571.
• 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, 72(6), 568-569.
• 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.
• 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.
• Reeve AK, Krishnan KJ, Turnbull DM. Age related mitochondrial degenerative disorders in humans. Biotechnology Journal 2008, 3(6), 750-756.
• Cree L, Patel S, Pyle A, Lynn S, Turnbull DM, Chinnery PF, Walker M. Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets. Diabetologia 2008, 51(8), 1440-1443.
• Murphy R, Turnbull DM, Walker M, Hattersley AT. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabetic Medicine 2008, 25(4), 383-399.
• Brown AE, Elstner M, Yeaman SJ, Turnbull DM, Walker M. Does impaired mitochondrial function affect insulin signaling and action in cultured human skeletal muscle cells?. American Journal of Physiology - Endocrinology and Metabolism 2008, 294(1), E97-E102.
• Bender A, Schwarzkopf RM, McMillan A, Krishnan KJ, Rieder G, Neumann M, Elstner M, Turnbull DM, Klopstock T. Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions. Journal of Neurology 2008, 255(8), 1231-1235.
• Kennelly MM, Baker MR, Birchall D, Hanley JP, Turnbull DM, Loughney AD. Hyperemesis gravidarum and first trimester sagittal sinus thrombosis. Journal of Obstetrics and Gynaecology 2008, 28(4), 453-454.
• Ban M, Elson J, Walton A, Turnbull D, Compston A, Chinnery P, Sawcer S. Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility. PLoS One 2008, 3(8), e2891.
• 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.
• Mahad DJ, Ziabreva I, Lassmann H, Turnbull DM. Mitochondrial defects in acute multiple sclerosis lesions. Brain 2008, 131(7), 1722-1735.
• Reeve AK, Krishnan KJ, Turnbull D. Mitochondrial DNA mutations in desease, aging and neurodegeneration. Annals of the New York Academy of Sciences 2008, 1147, 21-29.
• 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.
• Reeve AK, Krishnan KJ, Elson JL, Morris CM, Bender A, Lightowlers RN, Turnbull DM. Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons. American Journal of Human Genetics 2008, 82(1), 228-235.
• 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.
• 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.
• 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.
• 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.
• 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.
• Mahad DJ, Lassmann H, Turnbull DM. Review: Mitochondria and disease progression in multiple sclerosis. Neuropathology and Applied Neurobiology 2008, 34(6), 577-589.
• 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.
• 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.
• Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Biochemical Assays of Respiratory Chain Complex Activity. Methods in Cell Biology 2007, 80, 93-119.
• 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.
• 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.
• Krishnan KJ, Reeve AK, Turnbull DM. Do mitochondrial DNA mutations have a role in neurodegenerative disease?. In: Biochemical Society Transactions: Focus Topics at Life Sciences. 2007, Glasgow, UK: Portland Press Ltd.
• Olsen RKJ, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JCS, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AAM. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007, 130(8), 2045-2054.
• Gardner JL, Craven L, Turnbull DM, Taylor RW. Experimental Strategies Towards Treating Mitochondrial DNA Disorders. Bioscience Reports 2007, 27(1-3), 139-150.
• 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, 30(1), 100-100.
• Taylor RW, Chinnery PF, Turnbull DM. Investigation of metabolic myopathies. Handbook of Clinical Neurology 2007, 86, 193-204.
• 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.
• 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.
• McFarland R, Taylor RW, Turnbull DM. Mitochondrial Disease-Its Impact, Etiology, and Pathology. Current Topics in Developmental Biology 2007, 77, 113-155.
• Krishnan KJ, Greaves LC, Reeve AK, Turnbull DM. Mitochondrial DNA mutations and aging. In: Biogerontology - Mechanisms and Interventions: 5th European Congress of Biogerontology. 2007, Istanbul, Turkey: Wiley-Blackwell Publishing, Inc.
• Taylor RW, Turnbull DM. Mitochondrial DNA Transcription: Regulating the Power Supply. Cell 2007, 130(2), 211-213.
• 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.
• Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Prevalence and progression of diabetes in mitochondrial disease. Diabetologia 2007, 50(10), 2085-2089.
• Howell N, Elson JL, Howell C, Turnbull DM. Relative rates of evolution in the coding and control regions of African mtDNAs. Molecular Biology and Evolution 2007, 24(10), 2213-2221.
• 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.
• 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.
• Krishnan KJ, Greaves LC, Reeve AK, Turnbull D. The ageing mitochondrial genome. Nucleic Acids Research 2007, 35(22), 7399-7405.
• Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G, Smeitink JA, Turnbull DM, McFarland R. A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscular Disorders 2006, 16(12), 814-820.
• Yu Wai Man CY, Smith T, Chinnery PF, Turnbull DM, Griffiths PG. Assessment of visual function in chronic progressive external ophthalmoplegia. Eye 2006, 20(5), 564-568.
• McDonald SAC, Preston SL, Greaves LC, Leedham SJ, Lovell MA, Jankowski JAZ, Turnbull DM, Wright NA. Clonal expansion in the human gut - Mitochondrial DNA mutations show us the way. Cell Cycle 2006, 5(8), 808-811.
• Elson JL, Herrnstadt C, Preston G, Thal L, Morris CM, Edwardson JA, Beal MF, Turnbull DM, Howell N. Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?. Human Genetics 2006, 119(3), 241-254.
• 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.
• 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.
• Andrews H, White K, Thomson C, Edgar J, Bates D, Griffiths I, Turnbull D, Nichols P. Increased axonal mitochondrial activity as an adaptation to myelin deficiency in the Shiverer mouse. Journal of Neuroscience Research 2006, 83(8), 1533-1539.
• Schaefer AM, Phoenix C, Elson JL, McFarland R, Chinnery PF, Turnbull DM. Mitochondrial disease in adults: A scale to monitor progression and treatment. Neurology 2006, 66(12), 1932-1934.
• 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.
• 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.
• Wilding CS, Cadwell K, Tawn EJ, Relton CL, Taylor GA, Chinnery PF, Turnbull DM. Mitochondrial DNA mutations in individuals occupationally exposed to ionizing radiation. Radiation Research 2006, 165(2), 202-207.
• Smeitink JA, Zeviani M, Turnbull DM, Jacobs HT. Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metabolism 2006, 3(1), 9-13.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• Durham SE, Brown DT, Turnbull DM, Chinnery PF. Progressive depletion of mtDNA in mitochondrial myopathy. Neurology 2006, 67(3), 502-504.
• 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.
• 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.
• Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. European Journal of Neurology 2006, 13(9), 923-929.
• Andrews R, Ressiniotis T, Turnbull DM, Birch M, Keers S, Chinnery PF, Griffiths PG. The role of mitochondrial haplogroups in primary open angle glaucoma. British Journal of Ophthalmology 2006, 90(4), 488-490.
• 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.
• Chinnery P, Majamaa K, Turnbull D, Thorburn D. Treatment for mitochondrial disorders. Cochrane Database of Systematic Reviews 2006, (1), CD004426.
• 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.
• 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.
• Howell N, Kubacka I, Keers SM, Turnbull DM, Chinnery PF. Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree. Human Genetics 2005, 116(1-2), 28-32.
• 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, 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.
• Andrews H, White K, Thomson C, Edgar J, Bates D, Griffiths I, Turnbull D, Nichols P. Mitochondria and axonal loss in multiple sclerosis: the shiverer mouse as a model of secondary progressive MS. In: 15th Meeting of the European-Neurological-Society. 2005, Vienna, Austria: Springer.
• Walker M, Taylor RW, Turnbull DM. Mitochondrial diabetes. Diabetic Medicine 2005, 22(4), 18-20.
• Baudouin S, Saunders D, Tiangyou W, Elson J, Poynter J, Pyle A, Keers S, Turnbull D, Howell N, Chinnery P. Mitochondrial DNA and survival after sepsis: A prospective study. Lancet 2005, 366(9503), 2118-2121.
• Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nature Reviews Genetics 2005, 6(5), 389-402.
• Andrews HE, Nichols PP, Bates D, Turnbull DM. Mitochondrial dysfunction plays a key role in progressive axonal loss in Multiple Sclerosis. Medical Hypotheses 2005, 64(4), 669-677.
• Howell N, Elson JL, Chinnery PF, Turnbull DM. mtDNA mutations and common neurodegenerative disorders. Trends in Genetics 2005, 21(11), 583-586.
• Jacobs HT, Turnbull DM. Nuclear genes and mitochondrial translation: A new class of genetic disease. Trends in Genetics 2005, 21(6), 312-314.
• Richardson C, Smith T, Schaefer A, Turnbull D, Griffiths P. Ocular motility findings in chronic progressive external ophthalmoplegia. Eye 2005, 19(3), 258-263.
• 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.
• McGill A, Frank A, Emmett N, Turnbull DM, Birch-Machin MA, Reynolds NJ. The anti-psoriatic drug anthralin accumulates in keratinocyte mitochondria, dissipates mitochondrial membrane potential, and induces apoptosis through a pathway dependent on respiratory competent mitochondria. FASEB Journal 2005, 19(8), 1012-1014.
• 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.
• Howell N, Elson JL, Turnbull DM, Herrnstadt C. African haplogroup L mtDNA sequences show violations of clock-like evolution. Molecular Biology and Evolution 2004, 21(10), 1843-1854.
• Andrews HE, Barron MJ, Edgar J, Turnbull DM, Bates D, Griffiths IR, Nichols P. AN INVESTIGATION INTO THE ROLE OF MITOCHONDRIA IN THE AXONAL RESPONSE TO DEMYELINATION USING A MYELIN BASIC PROTEIN MUTANT (SHIVERER) MOUSE MODEL. In: Association of British Neurologists’ Spring Meeting. 2004.
• 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.
• Elson JL, Turnbull DM, Howell N. Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection. American Journal of Human Genetics 2004, 74(2), 229-238.
• 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. Annals of Neurology 2004, 55(1), 58-64.
• 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.
• Pye D, Watt DJ, Walker C, Lightowlers RN, Turnbull DM. Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease. Neuromuscular Disorders 2004, 14(5), 329-336.
• Andrews H, Barron M, Edgar J, Turnbull D, Bates D, Griffiths I, Nichols R. Mitochondria in multiple sclerosis: the missing link?. In: MULTIPLE SCLEROSIS. 2004.
• Blakely EL, He LP, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM. Mitochondrial DNA deletion in "identical" twin brothers. Journal of Medical Genetics 2004, 41(2), e19.
• 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.
• Yu Wai Man P, Howell N, Mackey DA, Nørby S, Rosenberg T, Turnbull DM, Chinnery PF. Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees. Journal of Medical Genetics 2004, 41(4), e41-e41.
• 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.
• Betts J, Lightowlers RN, Turnbull DM. Neuropathological Aspects of Mitochondrial DNA Disease. Neurochemical Research 2004, 29(3), 505-511.
• 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.
• Keers SM, Gibson AM, Turnbull DM, Chinnery PF. No evidence of an association between the mtDNA 16184-93 polyC tract and late onset dementia. American Journal of Medical Genetics 2004, 41(12), 957-958.
• Gibson AM, Edwardson JA, Turnbull DM, McKeith IG, Morris CM, Chinnery PF. No evidence of an association between the T16189C mtDNA variant and late onset dementia. Journal of Medical Genetics 2004, 41(1), e7.
• 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.
• 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. Lancet 2004, 364(9434), 592-596.
• 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.
• Barron MJ, Griffiths P, Turnbull DM, Bates D, Nichols P. The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head. British Journal of Ophthalmology 2004, 88(2), 286-290.
• 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 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.
• 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, 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.
• 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.
• Chinnery PF, Howel D, Turnbull DM, Johnson MA. Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres. Journal of the Neurological Sciences 2003, 211(1-2), 63-66.
• 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.
• 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), -.
• 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, 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.
• Lynn S, Borthwick GM, Charnley RM, Walker M, Turnbull DM. Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells. Diabetologia 2003, 46(2), 296-299.
• 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 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, 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.
• Chinnery PF, Turnbull DM. Mitochondrial encephalomyopathies. In: Warrell, D.A., Cox, T.M., Firth, J.D, ed. Oxford Textbook of Medicine. Oxford: Oxford University Press, 2003.
• Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. Journal of Inherited Metabolic Disease 2003, 26(6), 543-557.
• 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.
• Cottrell DA, Schaefer A, Borthwick GM, Perry R, Turnbull DM. Neuronal apoptosis occurs in patients with mitochondrial DNA disorders. In: Journal of Neurology, Neurosurgery and Psychiatry: Joint Congress of the Association of British Neurologists/Neurological Association of South Africa. 2003, Cape Town, South Africa: BMJ Group.
• Griffiths PG, Smith T, Richardson C, Schaefer A, Turnbull DM. Ocular motility findings in chronic progressive external ophthalmoplegia. In: Investigative Ophthalmology & Visual Science: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2003, Ft Lauderdale, Florida, USA: Association for Research in Vision and Ophthalmology.
• 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.
• Ross GF, Smith PM, McGregor A, Turnbull DM, Lightowlers RN. Synthesis of trifunctional PNA-benzophenone derivatives for mitochondrial targeting, selective DNA binding, and photo-cross-linking. Bioconjugate Chemistry 2003, 14(5), 962-966.
• Yu Wai Man P, Griffiths PG, Brown D, Howell N, Turnbull DM, Chinnery PF. The epidemiology of Leber hereditary optic neuropathy in the North East of England. American Journal of Human Genetics 2003, 72(2), 333-339.
• Howell N, Smejkal CB, Mackey DA, Chinnery PF, Turnbull DM, Herrnstadt C. The pedigree rate of sequence divergence in the human mitochondrial genome: There is a difference between phylogenetic and pedigree rates. American Journal of Human Genetics 2003, 72(3), 659-670.
• Yu Wai Man P, Morris CM, Zeviani M, Carrara F, Turnbull DM, Chinnery PF. The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy. Journal of Medical Genetics 2003, 40(4), e41-e41.
• Barron MJ, Turnbull DM, Bates D, Anthony D, Nichols P. [abstract] Neuronal loss in Multiple Sclerosis: Role of Mitochondria in the Axonal response to Demyelination. In: European Journal of Neurology: 7th EFNS Congress. 2003, Helsinki, Finland: Wiley-Blackwell Publishing Ltd.
• Herrnstadt C, Preston G, Andrews R, Chinnery P, Lightowlers RN, Turnbull DM, Kubacka I, Howell N. A high frequency of mtDNA polymorphisms in HeLa cell sublines. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2002, 501(1-2), 19-28.
• Herrnstadt C, Preston G, Andrews R, Chinnery P, Lightowlers RN, Turnbull DM, Kubacka I, Howell N. A high frequency of mtDNA polymorphisms in HeLa cell sublines. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2002, 501(1-2), 19-28.
• 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.
• Turnbull DM, Lightowlers RN. A roundabout route to gene therapy. Nature Genetics 2002, 30(4), 345-346.
• Miele G, Jeffrey M, Turnbull D, Manson J, Clinton M. Ablation of cellular prion protein expression affects mitochondrial numbers and morphology. Biochemical and Biophysical Research Communications 2002, 291(2), 372-377.
• Chinnery PF, Samuels DC, Elson J, Turnbull DM. Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: Is there a common mechanism?. Lancet 2002, 360(9342), 1323-1325.
• Tyni T, Pourfarzam M, Turnbull DM. Analysis of mitochondrial fatty acid oxidation intermediates by tandem mass spectrometry from intact mitochondria prepared from homogenates of cultured fibroblasts, skeletal muscle cells, and fresh muscle. Pediatric Research 2002, 52(1), 64-70.
• Spiropoulos J, Turnbull DM, Chinnery PF. Can mitochondrial DNA mutations cause sperm dysfunction?. Molecular Human Reproduction 2002, 8(8), 719-721.
• Turnbull DM, Taylor RW, McFarland RM, Schaefer AM. Defects of the mitochondrial genome. SAGGI - Child Development and Disabilities 2002, 28(1), 75-82.
• Choo-Kang ATW, Lynn S, Taylor GA, Daly ME, Sihota SS, Wardell TM, Chinnery PF, Turnbull DM, Walker M. Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. Diabetes 2002, 51(7), 2317-2320.
• 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), e68.
• 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.
• Chinnery PF, Samuels DC, Brown DT, Turnbull DM. Heteroplasmic mitochondrial DNA mutations: Determining the mechanism of inheritance. In: Journal of Neurology, Neurosurgery and Psychiatry: Association of British Neurologists Autumn Meeting. 2002, Durham: BMJ Group.
• McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KMD, Turnbull DM, Shaw PJ. Investigation of mitochondrial function in hereditary spastic paraparesis. In: Journal of Neurology, Neurosurgery and Psychiatry: Proceedings of the Association of British Neurologists. 2002, Oxford: BMJ Group.
• Yu Wai Man P, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. Journal of Medical Genetics 2002, 39(3), 162-169.
• 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.
• 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.
• Tyni T, Johnson M, Eaton S, Pourfarzam M, Andrews R, Turnbull DM. Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium. Pediatric Research 2002, 52(4), 595-600.
• 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.
• 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.
• Yu Wai Man P, Brown DT, Wehnert MS, Zeviani M, Carrara F, Turnbull DM, Chinnery PF. NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy. Neurology 2002, 58(12), 1861-1862.
• Turnbull DM, Brown DT, Lightowlers RN. Novel therapies for mitochondrial myopathies. In: Neuromuscular Disorders: 7th International Congress of the World Muscle Society. 2002, Rotterdam, Netherlands: Elsevier Ltd.
• Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. American Journal of Human Genetics 2002, 70(5), 1152-1171.
• Chinnery PF, Brown DT, Archibald K, Curtis A, Turnbull DM. Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations. Journal of Medical Genetics 2002, 39(5), E22.
• Bristow EA, Griffiths PG, Andrews RM, Johnson MA, Turnbull DM. The distribution of mitochondrial activity in relation to optic nerve structure. Archives of Ophthalmology 2002, 120(6), 791-796.
• Elson JL, Samuels DC, Johnson MA, Turnbull DM, Chinnery PF. The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy. Neuromuscular Disorders 2002, 12(9), 858-864.
• McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurology 2002, 1(6), 343-351.
• Cottrell DA, Borthwick GM, Johnson MA, Ince PG, Turnbull DM. The role of cytochrome c oxidase deficient hippocampal neurones in Alzheimer's disease. Neuropathology and Applied Neurobiology 2002, 28(5), 390-396.
• Lynn S, Evans JC, White C, Frayling TM, Hattersley AT, Turnbull DM, Horikawa Y, Cox NJ, Bell GI, Walker M. Variation in the calpain-10 gene affects blood glucose levels in the British population. Diabetes 2002, 51(1), 247-250.
• Cottrell DA, Ince PG, Wardell TM, Turnbull DM, Johnson MA. Accelerated ageing changes in the choroid plexus of a case with multiple mitochondrial DNA deletions. Neuropathology and Applied Neurobiology 2001, 27(3), 206-214.
• 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.
• Elson JL, Andrews RM, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Analysis of European mtDNAs for recombination. American Journal of Human Genetics 2001, 68(1), 145-153.
• Taylor RW, Singh-Kler R, Hayes CM, Smith PEM, Turnbull DM. Annals 25th anniversary. Annals of Neurology 2001, 50(1), 1-3.
• Birch-Machin MA, Turnbull DM. Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. In: Liza A. Pon, Eric A. Schon, ed. Mitochondria. San Diego, California; London: Academic Press, 2001, pp.97-117.
• 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.
• 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.
• Turnbull DM, Lightowlers RN, Taylor RW. Current perspectives in the treatment of mitochondrial DNA diseases. Functional Neurology 2001, 16(4), 89-96.
• Griffiths PG, Barron MJ, Durham S, Johnson MA, Bristow E, Clarke MP, Lai-Cheong J, Turnbull DM. Distribution of mitochondrial dysfunction in ageing ocular tissues. In: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2001, Fort Lauderdale, Florida, USA: Association for Research in Vision and Ophthalmology.
• Andrews RM, Griffiths PJ, Howell N, Turnbull DM. Investigation of mitochondrial gene mutations in glaucoma. In: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2001, Fort Lauderdale, Florida, USA: Association for Research in Vision and Ophthalmology.
• Chinnery PF, Andrews RM, Turnbull DM, Howell N. Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?. American Journal of Medical Genetics 2001, 98(3), 235-243.
• 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.
• Barron MJ, Johnson MA, Andrews RM, Clarke MP, Griffiths PG, Bristow E, He L, Durham S, Turnbull DM. Mitochondrial abnormalities in ageing macular photoreceptors. Investigative Ophthalmology and Visual Science 2001, 42(12), 3016-3022.
• Chinnery PF, Turnbull DM. Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options. American Journal of Medical Genetics: Seminars in Medical Genetics 2001, 106(1), 102-114.
• Cottrell DA, Blakely EL, Johnson MA, Borthwick GM, Ince PI, Turnbull DM. Mitochondrial DNA mutations in disease and ageing. In: Ageing Vulnerability: Causes and Interventions. 2001, London, UK: John Wiley & Sons Ltd.
• Cottrell DA, Blakely EL, Johnson MA, Borthwick GM, Ince PI, Turnbull DM. Mitochondrial DNA mutations in disease and ageing. In: G Bock, JA Goode, ed. Ageing Vulnerability: Causes and Interventions. Chichester, UK: John Wiley & Sons, Ltd, 2001, pp.234-246.
• Cottrell DA, Blakely EL, Johnson MA, Ince PG, Turnbull DM. Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD. Neurology 2001, 57(2), 260-264.
• Chinnery PF, Turnbull DM. Mitochondrial Genetics. In: Genotype to Phenotype. Oxford: Garland Science, 2001, pp.90-114.
• Blakely EL, Elson JL, Cottrell DA, Brierley EJ, Turnbull DM. Mitochondrial Involvement in Ageing. In: MS, Ebadi; Marwah, J; Chopra, RJ, ed. Mitochondrial Ubiquinone (Coenzyme Q10): biochemical, functional, medical and therapeutic aspects in human health and disease. Arizona: Prominent Press, 2001.
• Taylor RW, Wardell TM, Lightowlers RN, Turnbull DM. Molecular basis for treatment of mitochondrial myopathies. Neurological Science 2001, 21(3), 909-912.
• Chinnery PF, Taylor GA, Howell N, Brown DT, Parsons TJ, Turnbull DM. Point mutations of the mtDNA control region in normal and neurodegenerative human brains. American Journal of Human Genetics 2001, 68(2), 529-532.
• Elson JL, Samuels DC, Turnbull DM, Chinnery PF. Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. American Journal of Human Genetics 2001, 68(3), 802-806.
• 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.
• Livingstone C, Chinnery PF, Turnbull DM. The ischaemic lactate-ammonia test. Annals of Clinical Biochemistry 2001, 38(4), 304-310.
• Schaefer AM, Taylor RW, Turnbull DM. The mitochondrial genome and mitochondrial muscle disorders. Current Opinion in Pharmacology 2001, 1(3), 288-293.
• Chinnery PF, Brown DT, Johnson MA, Turnbull DM. The natural history of mitochondrial DNA disease provides new insight into the pathogenetic mechanisms. In: Journal of Neurology, Neurosurgery and Psychiatry. 2001, BMJ Group.
• Poulton J, Turnbull DM. 74th ENMC International Workshop: Mitochondrial Diseases 19-20 November 1999, Naarden, The Netherlands. Neuromuscular Disorders 2000, 10(6), 460-462.
• 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. In: Barnett, YA; Barnett, CR, ed. Ageing Methods and Protocols. New Jersey: Humana Press, 2000, pp.265-277.
• Walker M, Jackson S, Yeaman SJ, Turnbull DM. Decreased glucose uptake in myoblasts from insulin resistant non-diabetic relatives of type 2 diabetic families. Diabetes 2000, 48(s1), A263-A264 abstract no. 1154.
• 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.
• McDermott CJ, Dayaratne RK, Tomkins J, Johnson MA, Casari G, Turnbull DM, Bushby K, Shaw PJ. Hereditary spastic paraparesis with amyotrophy and OXPHOS muscle defect associated with a deletion in the paraplegin (SPG7) gene with apparent autosomal dominant transmission. Neurology 2000, 54, A425-A425.
• Lynn S, Hattersley AT, McCarthy MI, Frayling TM, Turnbull DM, Walker M. Intermediate expansions of a X25/frataxin gene GAA repeat and Type II diabetes: Assessment using parent-offspring trios [1]. Diabetologia 2000, 43(3), 384-385.
• 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.
• Cottrell DA, Turnbull DM. Mitochondria and ageing. Current Opinion in Clinical Nutrition and Metabolic Care 2000, 3(6), 473-478.
• Cottrell DA, Turnbull DM. Mitochondria and Aging (Review). Current Opinion in Clinical Nutrition and Metabolic Care 2000, 3(6), 473-478.
• 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.
• Chinnery PF, Turnbull DM. Mitochondrial DNA mutations in the pathogenesis of human disease. Molecular Medicine Today 2000, 6(11), 425-432.
• Taylor RW, Wardell TM, Lightowlers RN, Turnbull DM. Molecular basis for treatment of mitochondrial myopathies. Neurological Sciences 2000, 21(9), S909-S912.
• Cottrell DA, Ince PG, Blakely EL, Johnson MA, Chinnery PF, Hanna M, Turnbull DM. Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder. Journal of Neuropathology and Experimental Neurology 2000, 59(7), 621-627.
• Miedzybrodzka Z, Morris AAM, Olpin S, Gerrie L, Dean JCS, Haites NE, Pollit R, Turnbull D. Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: A treatable cause of myopathy and metabolic crisis. In: JOURNAL OF MEDICAL GENETICS. 2000.
• Cottrell DA, Blakely EL, Johnson MA, Borthwick GM, Ince PG, Turnbull DM. Role of Mitochondrial DNA Mutations in Ageing and Health. The proceedings of the Japanese-UK co-operative study on longevity sciences, Newcastle (UK). National Institute for Longevity Sciences for the Japan Ministry of Health and Welfare 2000.
• Cottrell DA, Blakely EL, Borthwick GM, Johnson MA, Taylor GA, Brierley EJ, Ince PG, Turnbull DM. Role of mitochondrial DNA mutations in disease and aging. Annals of the New York Academy of Sciences 2000, 908(1), 199-207.
• 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.
• Barron MJ, Andrews RM, Griffiths PG, Johnson MA, Bristow E, He LP, Durham S, Turnbull DM, Clarke MP. The macular photoreceptor layer accumulates the mitochondrial DNA(4977) deletion with age. In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2000.
• Howell N, Chinnery PF, Ghosh SS, Fahy E, Turnbull DM. Transmission and segregation of the human mitochondrial genome. Human Reproduction 2000, 15(Supp. 2), 235-245.
• Howell N, Chinnery PF, Ghosh SS, Fahy E, Turnbull DM, Jansen R. Transmission of the human mitochondrial genome. Human Reproduction 2000, 15(2), 235-245.
• Clarke K, Taylor R, Johnson MA, Chinnery P, Chrzanowska-Lightowlers ZMA, Andrews R, Nelson I, Wood N, Lamont P, Hanna M, 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.
• Taylor RW, Andrews RM, Chinnery PF, Turnbull DM. Analysis of Mitochondrial DNA mutations. Methods in Molecular Medicine: Aging methods and protocols 1999, 38, 265-277.
• Chinnery PF, Howell N, Andrews RM, Turnbull DM. Clinical mitochondrial genetics. Journal of Medical Genetics 1999, 36(6), 425-436.
• Andrews RM, Griffiths PG, Chinnery PF, Turnbull DM. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Eye 1999, 13(6), 769-772.
• Andrews RM, Griffiths PG, Johnson MA, Turnbull DM. Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina. British Journal of Ophthalmology 1999, 83(2), 231-235.
• Andrews RM, McNeela BJ, Reading P, Griffiths PG, Chinnery PF, Turnbull DM. Mitochondrial DNA disease masquerading as age-related macular degeneration. Eye 1999, 13(4), 595-596.
• Chinnery PF, Zwijnenburg PJG, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Non-random tissue distribution of mutant mtDNA. American Journal of Medical Genetics. Part A 1999, 85(5), 498-501.
• Chinnery PF, Zwijnenburg PJG, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Nonrandom tissue distribution of mutant mtDNA. American Journal of Medical Genetics 1999, 85(5), 498-501.
• Spiropoulos J, Chinnery PF, Turnbull DM. Pathogenic mitochondrial DNA mutations and human reproduction. Human Fertility 1999, 2(2), 133-137.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid delivery to human mitochondria. Gene Therapy 1999, 6(12), 1919-1928.
• Taylor R.W., Birch-Machin M.A., Schaeffer J., Taylor L., Shakir R., Ackrell B.A.C., Bindoff L.A., Jackson M.J. and Turnbull D.M. Deficiency of complex II of the mitochondrial respiratory chain in two sisters with late onset optic atrophy and ataxia. Ann Neurol 1996, 39, 224-232.