Wellcome Trust Centre For Mitochondrial Research

Prof Sir Doug Turnbull

Personal Biography

Professor-Doug-Turnbull216Professor of Neurology, University of Newcastle upon Tyne (1990-present) HEFCE funded

Honorary Consultant Neurologist, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne

Director Wellcome Trust Centre for Mitochondrial Research

National lead of the National Highly Specialised Services for Rare Mitochondrial Diseases of Children and Adults. This involves 3 centres (Newcastle, London and Oxford) and provides diagnostic and specialist clinical services for patients with mitochondrial diseases.

Director, Newcastle University Centre for Brain Ageing and Vitality sponsored by BBSRC, EPSRC, ESRC and MRC.

Research Biography

I began my research as a junior doctor when I became interested in why a patient developed muscle pain on exercise. This led me to start my studies on mitochondria and disease which have continued to fascinate me to this day. My PhD studies focused on understanding the molecular mechanisms in mitochondrial disease “Mitochondrial Cytopathies: Clinical and Experimental Studies”. At the same time I completed an MD which focused on the anticonvulsant drug sodium valproate but I was particularly interested in the toxicity of sodium valproate which involves mitochondria “Sodium Valproate: Clinical and Biochemical Studies”.

On completion of my research degrees I became a Lecturer in Experimental Neurology and continued my research into mitochondrial disease. In 1990 I became Professor of Neurology at Newcastle University and this allowed me to develop my clinical and molecular studies of mitochondrial disease. One of the great strengths of working in the UK is the ability to link clinical studies to basic research and this highlight my main research interest and expertise. Building upon research which started over two decades ago we have been able to build the Wellcome Trust Centre for Mitochondrial Research along with a world class clinical service for patients.

Research Interests

Director Wellcome Trust Centre for Mitochondrial Research

This was a strategic award from the Trust and was officially opened in September 2012 by Sir Mark Walport. I am the Director of the Centre. The Centre focuses on improving the lives of patients with mitochondrial disease. To achieve these strategic aims we are integrating basic and clinical research, training exceptional young researchers and addressing the public and policy engagement issues around our research. The research is focused on four main areas: mitochondrial gene expression and related diseases, preventing transmission of mitochondrial DNA disease, understanding and treating the consequences of mitochondrial disease on the nervous system and determining the role of mitochondrial DNA in common chronic human diseases. I have also been working extensively with the Trust on the public engagement and policy issues around this research. Our work on preventing transmission of mitochondrial disease has been the subject of a public consultation exercise by the Human Fertilisation and Embryology Authority (HFEA) and will be considered by the Department of Health in March 2013 after the HFEA reports. If this research is to lead to more reproductive choices to women at risk then it will require a change in the HFE Act.

National lead for the NHS National Highly Specialised Services for Rare Mitochondrial Diseases of Children and Adults

This service is for all patients with mitochondrial disease in the UK. The service was originally designated in April 2007 and involves 3 centres (Newcastle, London and Oxford). The service provides diagnostic investigations for patients suspected of mitochondrial disease which includes biochemical, histochemical and molecular genetic studies. We provide a multidisciplinary clinical service for our patients including medical, specialist nurse, physiotherapy, speech and language therapy and welfare rights. The clinic is accessible for all patients and those unable to travel we have a telephone clinic. This service is unique internationally and highlights one of the great strengths of the NHS, the ability to focus on the best of care for all. The service also provides a wonderful opportunity to combine with clinical research since we have large cohorts of patients and the vast majority of them delighted to consent for research studies. We have a number of clinical research studies on-going using interventions such as exercise. I also have a major role in the MRC Centre for Neuromuscular Diseases at UCL and Newcastle which is a translational research centre and provides the infrastructure for clinical studies as well as supporting the MRC Mitochondrial Disease Cohort.

Director, Newcastle University Centre for Brain Ageing and Vitality

The Lifelong Health and Wellbeing programme was launched as one of the major cross research council grand challenges. Three ‘lifelong health and wellbeing’ research Centres were funded by the BBSRC, EPSRC, ESRC and MRC in 2008 and I am Director of the Newcastle University Centre for Brain Ageing and Vitality. Our Centre focuses on understanding mechanisms underlying the ageing process, with a particular emphasis on the brain, and developing interventions which will promote healthy ageing. In addition, our Centre has played a very major role in capacity building in the area of Lifelong Health. One of the most important initiatives has been to develop a new research area within the Centre around exercise and activity. Funded in part by a strategic award by the MRC we have developed an exercise training laboratory and developing interventions for both normal ageing individuals and patients with several age related diseases.

Research training

I have a long standing interest in research training for both clinical and basic scientists. I have supported 10 clinical training fellows and currently sponsor two Wellcome Trust Senior Clinical Fellows (Professor Timothy Griffiths and Professor Patrick Chinnery). I have chaired the Wellcome Trust Clinical Interest Group and the NIHR Fellowship Committee. I have supervised in total 35 PhD students and currently supervising 10 PhD students. Research training and mentorship is a major component of my current activity.

Awards, honours and professional service

Prizes and awards

Goulstonian Lecturer Royal College of Physicians 1992
Jean Hunter Prize, Royal College of Physicians 2003
Sims Royal College of Physicians Lecturer 2004
Membership of Research Committees

Wellcome Trust Panels/Committees

Neuroscience Panel (1992-1997)
Genetics Interest Group (1992-1995)
Innovations Grants Panel (1998-1999)
ALSPAC steering committee (2000-2003)
Clinical Interest Group (2003-6)
Chair Clinical Interest Group (2006-2007)
Chair of Molecular and Cellular Neuroscience Panel (2007-2011)

NIHR

NIHR Senior Fellow (2011-present)
NIHR Fellowship programme (2005-6)
Vice-chair of NIHR Fellowship Programme (2006-2007)
Chair of NIHR Fellowship programme (2007- 2010)

Publications

Herbert M; Turnbull D, 2017. Mitochondrial Donation - Clearing the Final Regulatory Hurdle in the United Kingdom.  N Engl J Med 376(2):171-173

Alston CL; Rocha MC; Lax NZ; Turnbull DM; Taylor RW, 2017. The genetics and pathology of mitochondrial disease.  J Pathol 241(2):236-250

Lin H; Patel S; Affleck VS; Wilson I; Turnbull DM; Joshi AR; Maxwell R; Stoll EA, 2017. Fatty acid oxidation is required for the respiration and proliferation of malignant glioma cells.  Neuro Oncol 19(1):43-54

Chan F; Lax NZ; Davies CH; Turnbull DM; Cunningham MO, 2016. Neuronal oscillations: A physiological correlate for targeting mitochondrial dysfunction in neurodegenerative diseases?  Neuropharmacology 102:48-58

Russell OM; Lightowlers RN; Turnbull DM, 2016. Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia.  Mol Cell 62(1):5-6

Rygiel KA; Picard M; Turnbull DM, 2016. The ageing neuromuscular system and sarcopenia: a mitochondrial perspective.  J Physiol 594(16):4499-512

Roundhill E; Turnbull D; Burchill S, 2016. Localization of MRP-1 to the outer mitochondrial membrane by the chaperone protein HSP90β.  FASEB J 30(5):1712-23

Grünewald A; Rygiel KA; Hepplewhite PD; Morris CM; Picard M; Turnbull DM, 2016. Mitochondrial DNA Depletion in Respiratory Chain-Deficient Parkinson Disease Neurons.  Ann Neurol 79(3):366-78

Stoll EA; Karapavlovic N; Rosa H; Woodmass M; Rygiel K; White K; Turnbull DM; Faulkes CG, 2016. Naked mole-rats maintain healthy skeletal muscle and Complex IV mitochondrial enzyme function into old age.  Aging (Albany NY) 8(12):3468-3485

Short CE; Hayman M; Rebar AL; Gunn KM; De Cocker K; Duncan MJ; Turnbull D; Dollman J; van Uffelen JG; Vandelanotte C, 2016. Physical activity recommendations from general practitioners in Australia. Results from a national survey.  Aust N Z J Public Health 40(1):83-90

Phillips J; Laude A; Lightowlers R; Morris CM; Turnbull DM; Lax NZ, 2016. Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease.  Sci Rep 6:26013

Craven L; Herbert M; Murdoch A; Murphy J; Lawford Davies J; Turnbull DM, 2016. Research into Policy: A Brief History of Mitochondrial Donation.  Stem Cells 34(2):265-7

Barends M; Verschuren L; Morava E; Nesbitt V; Turnbull D; McFarland R, 2016. Causes of Death in Adults with Mitochondrial Disease.  JIMD Rep 26:103-13

Chrysostomou A; Grady JP; Laude A; Taylor RW; Turnbull DM; Lax NZ, 2016. Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease.  Neuropathol Appl Neurobiol 42(5):477-92

Ng YS; Turnbull DM, 2016. Mitochondrial disease: genetics and management.  J Neurol 263(1):179-91

Ng YS; Grady JP; Lax NZ; Bourke JP; Alston CL; Hardy SA; Falkous G; Schaefer AG; Radunovic A; Mohiddin SA; Ralph M; Alhakim A; Taylor RW; McFarland R; Turnbull DM; Gorman GS, 2016. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.  Eur Heart J 37(32):2552-9

Turnbull DM; Rustin P, 2016. Genetic and biochemical intricacy shapes mitochondrial cytopathies.  Neurobiol Dis 92(Pt A):55-63

Rygiel KA; Tuppen HA; Grady JP; Vincent A; Blakely EL; Reeve AK; Taylor RW; Picard M; Miller J; Turnbull DM, 2016. Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.  Nucleic Acids Res 44(11):5313-29

Martikainen MH; Ng YS; Gorman GS; Alston CL; Blakely EL; Schaefer AM; Chinnery PF; Burn DJ; Taylor RW; McFarland R; Turnbull DM, 2016. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.  JAMA Neurol 73(6):668-74

Hyslop LA; Blakeley P; Craven L; Richardson J; Fogarty NM; Fragouli E; Lamb M; Wamaitha SE; Prathalingam N; Zhang Q; O'Keefe H; Takeda Y; Arizzi L; Alfarawati S; Tuppen HA; Irving L; Kalleas D; Choudhary M; Wells D; Murdoch AP; Turnbull DM; Niakan KK; Herbert M, 2016. Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.  Nature 534(7607):383-6

Lax NZ; Gorman GS; Turnbull DM, 2016. Invited Review: Central nervous system involvement in mitochondrial disease.  Neuropathol Appl Neurobiol.

Vincent AE; Rosa HS; Alston CL; Grady JP; Rygiel KA; Rocha MC; Barresi R; Taylor RW; Turnbull DM, 2016. Dysferlin mutations and mitochondrial dysfunction.  Neuromuscul Disord 26(11):782-788

Gorman GS; Chinnery PF; DiMauro S; Hirano M; Koga Y; McFarland R; Suomalainen A; Thorburn DR; Zeviani M; Turnbull DM, 2016. Mitochondrial diseases.  Nat Rev Dis Primers 2:16080

Vincent AE; Grady JP; Rocha MC; Alston CL; Rygiel KA; Barresi R; Taylor RW; Turnbull DM, 2016. Mitochondrial dysfunction in myofibrillar myopathy.  Neuromuscul Disord 26(10):691-701

Dobson PF; Rocha MC; Grady JP; Chrysostomou A; Hipps D; Watson S; Greaves LC; Deehan DJ; Turnbull DM, 2016. Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA(-/-) mice.  Sci Rep 6:31907

Hardy SA; Blakely EL; Purvis AI; Rocha MC; Ahmed S; Falkous G; Poulton J; Rose MR; O'Mahony O; Bermingham N; Dougan CF; Ng YS; Horvath R; Turnbull DM; Gorman GS; Taylor RW, 2016. Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.  Neurol Genet 2(4):e82

Vincent AE; Ng YS; White K; Davey T; Mannella C; Falkous G; Feeney C; Schaefer AM; McFarland R; Gorman GS; Taylor RW; Turnbull DM; Picard M, 2016. The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.  Sci Rep 6:30610

Ehinger JK; Piel S; Ford R; Karlsson M; Sjövall F; Frostner EÅ; Morota S; Taylor RW; Turnbull DM; Cornell C; Moss SJ; Metzsch C; Hansson MJ; Fliri H; Elmér E, 2016. Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency.  Nat Commun 7:12317

Martikainen MH; Burn DJ; Turnbull DM, 2016. Spectrum of Movement Disorders in Mitochondrial Disorders-Reply.  JAMA Neurol 73(10):1254-1255

Ng YS; Feeney C; Schaefer AM; Holmes CE; Hynd P; Alston CL; Grady JP; Roberts M; Maguire M; Bright A; Taylor RW; Yiannakou Y; McFarland R; Turnbull DM; Gorman GS, 2016. Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.  Ann Neurol 80(5):686-692

Picard M; Vincent AE; Turnbull DM, 2016. Expanding Our Understanding of mtDNA Deletions.  Cell Metab 24(1):3-4

Whittaker RG; Gorman G; Ng Y; Turnbull DM, 2016. Reply.  Ann Neurol 80(2):314

Khundakar AA; Hanson PS; Erskine D; Lax NZ; Roscamp J; Karyka E; Tsefou E; Singh P; Cockell SJ; Gribben A; Ramsay L; Blain PG; Mosimann UP; Lett DJ; Elstner M; Turnbull DM; Xiang CC; Brownstein MJ; O'Brien JT; Taylor JP; Attems J; Thomas AJ; McKeith IG; Morris CM, 2016. Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations.  Acta Neuropathol Commun 4(1):66

Cadete VJ; Deschênes S; Cuillerier A; Brisebois F; Sugiura A; Vincent A; Turnbull D; Picard M; McBride HM; Burelle Y, 2016. Formation of mitochondrial-derived vesicles is an active and physiologically relevant mitochondrial quality control process in the cardiac system.  J Physiol 594(18):5343-62

Lax NZ; Grady J; Laude A; Chan F; Hepplewhite PD; Gorman G; Whittaker RG; Ng Y; Cunningham MO; Turnbull DM, 2016. Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.  Neuropathol Appl Neurobiol 42(2):180-93

Rygiel KA; Miller J; Grady JP; Rocha MC; Taylor RW; Turnbull DM, 2015. Mitochondrial and inflammatory changes in sporadic inclusion body myositis.  Neuropathol Appl Neurobiol 41(3):288-303

Hall AM; Vilasi A; Garcia-Perez I; Lapsley M; Alston CL; Pitceathly RD; McFarland R; Schaefer AM; Turnbull DM; Beaumont NJ; Hsuan JJ; Cutillas PR; Lindon JC; Holmes E; Unwin RJ; Taylor RW; Gorman GS; Rahman S; Hanna MG, 2015. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.  Kidney Int 87(3):610-22

Richardson J; Irving L; Hyslop LA; Choudhary M; Murdoch A; Turnbull DM; Herbert M, 2015. Concise reviews: Assisted reproductive technologies to prevent transmission of mitochondrial DNA disease.  Stem Cells 33(3):639-45

Gorman GS; Pfeffer G; Griffin H; Blakely EL; Kurzawa-Akanbi M; Gabriel J; Sitarz K; Roberts M; Schoser B; Pyle A; Schaefer AM; McFarland R; Turnbull DM; Horvath R; Chinnery PF; Taylor RW, 2015. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.  JAMA Neurol 72(1):106-11

Gorman GS; Blakely EL; Hornig-Do HT; Tuppen HA; Greaves LC; He L; Baker A; Falkous G; Newman J; Trenell MI; Lecky B; Petty RK; Turnbull DM; McFarland R; Taylor RW, 2015. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.  Clin Sci (Lond) 128(12):895-904

Gorman GS; Schaefer AM; Ng Y; Gomez N; Blakely EL; Alston CL; Feeney C; Horvath R; Yu-Wai-Man P; Chinnery PF; Taylor RW; Turnbull DM; McFarland R, 2015. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.  Ann Neurol 77(5):753-9

Herbert M; Turnbull D, 2015. Mitochondrial replacement to prevent the transmission of mitochondrial DNA disease.  EMBO Rep 16(5):539-40

Gorman GS; Grady JP; Ng Y; Schaefer AM; McNally RJ; Chinnery PF; Yu-Wai-Man P; Herbert M; Taylor RW; McFarland R; Turnbull DM, 2015. Mitochondrial donation--how many women could benefit?  N Engl J Med 372(9):885-7

Stoll EA; Makin R; Sweet IR; Trevelyan AJ; Miwa S; Horner PJ; Turnbull DM, 2015. Neural Stem Cells in the Adult Subventricular Zone Oxidize Fatty Acids to Produce Energy and Support Neurogenic Activity.  Stem Cells 33(7):2306-19

Martikainen MH; Gorman GS; Goldsmith P; Burn DJ; Turnbull DM; Schaefer AM, 2015. Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation.  Mov Disord 30(10):1432-3

Ng YS; Gorman GS; Turnbull DM; Martikainen MH, 2015. The diagnosis of posterior reversible encephalopathy syndrome.  Lancet Neurol 14(11):1073

Rygiel KA; Grady JP; Taylor RW; Tuppen HA; Turnbull DM, 2015. Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells.  Sci Rep 5:9906

Whittaker RG; Devine HE; Gorman GS; Schaefer AM; Horvath R; Ng Y; Nesbitt V; Lax NZ; McFarland R; Cunningham MO; Taylor RW; Turnbull DM, 2015. Epilepsy in adults with mitochondrial disease: A cohort study.  Ann Neurol 78(6):949-57

Lightowlers RN; Taylor RW; Turnbull DM, 2015. Mutations causing mitochondrial disease: What is new and what challenges remain?  Science 349(6255):1494-9

Rai PK; Russell OM; Lightowlers RN; Turnbull DM, 2015. Potential compounds for the treatment of mitochondrial disease.  Br Med Bull 116:5-18

Reeve AK; Ludtmann MH; Angelova PR; Simcox EM; Horrocks MH; Klenerman D; Gandhi S; Turnbull DM; Abramov AY, 2015. Aggregated α-synuclein and complex I deficiency: exploration of their relationship in differentiated neurons.  Cell Death Dis 6:e1820

Newman J; Galna B; Jakovljevic DG; Bates MG; Schaefer AM; McFarland R; Turnbull DM; Trenell MI; Taylor RW; Rochester L; Gorman GS, 2015. Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease.  J Neuromuscul Dis 2(2):151-155

Gorman GS; Elson JL; Newman J; Payne B; McFarland R; Newton JL; Turnbull DM, 2015. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease.  Neuromuscul Disord 25(7):563-6

Rocha MC; Grady JP; Grünewald A; Vincent A; Dobson PF; Taylor RW; Turnbull DM; Rygiel KA, 2015. A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.  Sci Rep 5:15037

Galna B; Newman J; Jakovljevic DG; Bates MG; Schaefer AM; McFarland R; Turnbull DM; Trenell MI; Gorman GS; Rochester L, 2014. Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences.  J Neurol 261(1):73-82

Pfeffer G; Gorman GS; Griffin H; Kurzawa-Akanbi M; Blakely EL; Wilson I; Sitarz K; Moore D; Murphy JL; Alston CL; Pyle A; Coxhead J; Payne B; Gorrie GH; Longman C; Hadjivassiliou M; McConville J; Dick D; Imam I; Hilton D; Norwood F; Baker MR; Jaiser SR; Yu-Wai-Man P; Farrell M; McCarthy A; Lynch T; McFarland R; Schaefer AM; Turnbull DM; Horvath R; Taylor RW; Chinnery PF, 2014. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.  Brain 137(Pt 5):1323-36

Baines HL; Turnbull DM; Greaves LC, 2014. Human stem cell aging: do mitochondrial DNA mutations have a causal role?  Aging Cell 13(2):201-5

Greggains GD; Lister LM; Tuppen HA; Zhang Q; Needham LH; Prathalingam N; Hyslop LA; Craven L; Polanski Z; Murdoch AP; Turnbull DM; Herbert M, 2014. Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations.  Sci Rep 4:3844

Reeve A; Simcox E; Turnbull D, 2014. Ageing and Parkinson's disease: why is advancing age the biggest risk factor?  Ageing Res Rev 14:19-30

Nesbitt V; Alston CL; Blakely EL; Fratter C; Feeney CL; Poulton J; Brown GK; Turnbull DM; Taylor RW; McFarland R, 2014. A national perspective on prenatal testing for mitochondrial disease.  Eur J Hum Genet 22(11):1255-9

Russell O; Turnbull D, 2014. Mitochondrial DNA disease-molecular insights and potential routes to a cure.  Exp Cell Res 325(1):38-43

Rygiel KA; Grady JP; Turnbull DM, 2014. Respiratory chain deficiency in aged spinal motor neurons.  Neurobiol Aging 35(10):2230-8

Grady JP; Campbell G; Ratnaike T; Blakely EL; Falkous G; Nesbitt V; Schaefer AM; McNally RJ; Gorman GS; Taylor RW; Turnbull DM; McFarland R, 2014. Disease progression in patients with single, large-scale mitochondrial DNA deletions.  Brain 137(Pt 2):323-34

Campbell G; Krishnan KJ; Deschauer M; Taylor RW; Turnbull DM, 2014. Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle.  Hum Mol Genet 23(17):4612-20

Blakely EL; Alston CL; Lecky B; Chakrabarti B; Falkous G; Turnbull DM; Taylor RW; Gorman GS, 2014. Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.  Neuromuscul Disord 24(6):533-6

Grünewald A; Lax NZ; Rocha MC; Reeve AK; Hepplewhite PD; Rygiel KA; Taylor RW; Turnbull DM, 2014. Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue.  J Neurosci Methods 232:143-9

Baines HL; Stewart JB; Stamp C; Zupanic A; Kirkwood TB; Larsson NG; Turnbull DM; Greaves LC, 2014. Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans.  Mech Ageing Dev 139:22-30

Taylor RW; Pyle A; Griffin H; Blakely EL; Duff J; He L; Smertenko T; Alston CL; Neeve VC; Best A; Yarham JW; Kirschner J; Schara U; Talim B; Topaloglu H; Baric I; Holinski-Feder E; Abicht A; Czermin B; Kleinle S; Morris AA; Vassallo G; Gorman GS; Ramesh V; Turnbull DM; Santibanez-Koref M; McFarland R; Horvath R; Chinnery PF, 2014. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.  JAMA 312(1):68-77

Khrapko K; Turnbull D, 2014. Mitochondrial DNA mutations in aging.  Prog Mol Biol Transl Sci 127:29-62

Greaves LC; Nooteboom M; Elson JL; Tuppen HA; Taylor GA; Commane DM; Arasaradnam RP; Khrapko K; Taylor RW; Kirkwood TB; Mathers JC; Turnbull DM, 2014. Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.  PLoS Genet 10(9):e1004620

Chinnery PF; Craven L; Mitalipov S; Stewart JB; Herbert M; Turnbull DM, 2014. The challenges of mitochondrial replacement.  PLoS Genet 10(4):e1004315

Grady JP; Murphy JL; Blakely EL; Haller RG; Taylor RW; Turnbull DM; Tuppen HA, 2014. Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.  PLoS One 9(12):e114462

Lax NZ; Gnanapavan S; Dowson SJ; Alston CL; He L; Polvikoski TM; Jaros E; O'Donovan DG; Yarham JW; Turnbull DM; Dean AF; Taylor RW, 2013. Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.  J Neuropathol Exp Neurol 72(2):164-75

Elson JL; Cadogan M; Apabhai S; Whittaker RG; Phillips A; Trennell MI; Horvath R; Taylor RW; McFarland R; McColl E; Turnbull DM; Gorman GS, 2013. Initial development and validation of a mitochondrial disease quality of life scale.  Neuromuscul Disord 23(4):324-9

Nesbitt V; Pitceathly RD; Turnbull DM; Taylor RW; Sweeney MG; Mudanohwo EE; Rahman S; Hanna MG; McFarland R, 2013. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.  J Neurol Neurosurg Psychiatry 84(8):936-8

Campbell GR; Reeve A; Ziabreva I; Polvikoski TM; Taylor RW; Reynolds R; Turnbull DM; Mahad DJ, 2013. Mitochondrial DNA deletions and depletion within paraspinal muscles.  Neuropathol Appl Neurobiol 39(4):377-89

Yarham JW; Blakely EL; Alston CL; Roberts ME; Ealing J; Pal P; Turnbull DM; McFarland R; Taylor RW, 2013. The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.  J Neurol Sci 325(1-2):165-9

Bates MG; Hollingsworth KG; Newman JH; Jakovljevic DG; Blamire AM; MacGowan GA; Keavney BD; Chinnery PF; Turnbull DM; Taylor RW; Trenell MI; Gorman GS, 2013. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.  Eur Heart J Cardiovasc Imaging 14(7):650-8

Picard M; White K; Turnbull DM, 2013. Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study.  J Appl Physiol (1985) 114(2):161-71

Whittaker RG; Hall E; Mansoor MK; Taylor RW; Turnbull DM, 2013. Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease.  J Peripher Nerv Syst 18(1):59-61

Blakely EL; Yarham JW; Alston CL; Craig K; Poulton J; Brierley C; Park SM; Dean A; Xuereb JH; Anderson KN; Compston A; Allen C; Sharif S; Enevoldson P; Wilson M; Hammans SR; Turnbull DM; McFarland R; Taylor RW, 2013. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.  Hum Mutat 34(9):1260-8

Sarkozy A; Hicks D; Hudson J; Laval SH; Barresi R; Hilton-Jones D; Deschauer M; Harris E; Rufibach L; Hwang E; Bashir R; Walter MC; Krause S; van den Bergh P; Illa I; Pénisson-Besnier I; De Waele L; Turnbull D; Guglieri M; Schrank B; Schoser B; Seeger J; Schreiber H; Gläser D; Eagle M; Bailey G; Walters R; Longman C; Norwood F; Winer J; Muntoni F; Hanna M; Roberts M; Bindoff LA; Brierley C; Cooper RG; Cottrell DA; Davies NP; Gibson A; Gorman GS; Hammans S; Jackson AP; Khan A; Lane R; McConville J; McEntagart M; Al-Memar A; Nixon J; Panicker J; Parton M; Petty R; Price CJ; Rakowicz W; Ray P; Schapira AH; Swingler R; Turner C; Wagner KR; Maddison P; Shaw PJ; Straub V; Bushby K; Lochmüller H, 2013. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.  Hum Mutat 34(8):1111-8

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, 2013. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.  Int J Cardiol 168(4):3599-608

Schaefer AM; Walker M; Turnbull DM; Taylor RW, 2013. Endocrine disorders in mitochondrial disease.  Mol Cell Endocrinol 379(1-2):2-11

Reeve A; Meagher M; Lax N; Simcox E; Hepplewhite P; Jaros E; Turnbull D, 2013. The impact of pathogenic mitochondrial DNA mutations on substantia nigra neurons.  J Neurosci 33(26):10790-801

Pfeffer G; Horvath R; Klopstock T; Mootha VK; Suomalainen A; Koene S; Hirano M; Zeviani M; Bindoff LA; Yu-Wai-Man P; Hanna M; Carelli V; McFarland R; Majamaa K; Turnbull DM; Smeitink J; Chinnery PF, 2013. New treatments for mitochondrial disease-no time to drop our standards.  Nat Rev Neurol 9(8):474-81

Spendiff S; Reza M; Murphy JL; Gorman G; Blakely EL; Taylor RW; Horvath R; Campbell G; Newman J; Lochmüller H; Turnbull DM, 2013. Mitochondrial DNA deletions in muscle satellite cells: implications for therapies.  Hum Mol Genet 22(23):4739-47

Picard M; Gentil BJ; McManus MJ; White K; St Louis K; Gartside SE; Wallace DC; Turnbull DM, 2013. Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle.  J Appl Physiol (1985) 115(10):1562-71

Yu-Wai-Man C; Smith FE; Firbank MJ; Guthrie G; Guthrie S; Gorman GS; Taylor RW; Turnbull DM; Griffiths PG; Blamire AM; Chinnery PF; Yu-Wai-Man P, 2013. Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.  PLoS One 8(9):e75048

Alston CL; Schaefer AM; Raman P; Solaroli N; Krishnan KJ; Blakely EL; He L; Craig K; Roberts M; Vyas A; Nixon J; Horvath R; Turnbull DM; Karlsson A; Gorman GS; Taylor RW, 2013. Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.  Neurology 81(23):2051-3

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, 2012. Loss of myelin-associated glycoprotein in kearns-sayre syndrome.  Arch Neurol 69(4):490-9

Krishnan KJ; Ratnaike TE; De Gruyter HL; Jaros E; Turnbull DM, 2012. Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease.  Neurobiol Aging 33(9):2210-4

Greaves LC; Reeve AK; Taylor RW; Turnbull DM, 2012. Mitochondrial DNA and disease.  J Pathol 226(2):274-86

Craig K; Young MJ; Blakely EL; Longley MJ; Turnbull DM; Copeland WC; Taylor RW, 2012. A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.  Mitochondrion 12(2):313-9

Lax NZ; Whittaker RG; Hepplewhite PD; Reeve AK; Blakely EL; Jaros E; Ince PG; Taylor RW; Fawcett PR; Turnbull DM, 2012. Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.  Brain 135(Pt 1):62-71

Lax NZ; Hepplewhite PD; Reeve AK; Nesbitt V; McFarland R; Jaros E; Taylor RW; Turnbull DM, 2012. Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.  J Neuropathol Exp Neurol 71(2):148-61

Maxwell G; Archibald N; Turnbull D, 2012. Neuro-Sweet's disease.  Pract Neurol 12(2):126-30

Reeve AK; Park TK; Jaros E; Campbell GR; Lax NZ; Hepplewhite PD; Krishnan KJ; Elson JL; Morris CM; McKeith IG; Turnbull DM, 2012. Relationship between mitochondria and α-synuclein: a study of single substantia nigra neurons.  Arch Neurol 69(3):385-93

Hollingsworth KG; Gorman GS; Trenell MI; McFarland R; Taylor RW; Turnbull DM; MacGowan GA; Blamire AM; Chinnery PF, 2012. Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load.  Neuromuscul Disord 22(7):592-6

Lax NZ; Pienaar IS; Reeve AK; Hepplewhite PD; Jaros E; Taylor RW; Kalaria RN; Turnbull DM, 2012. Microangiopathy in the cerebellum of patients with mitochondrial DNA disease.  Brain 135(Pt 6):1736-50

Shakir AA; Turnbull DM; Adams JR, 2012. Management of patients with dental disease and mitochondrial disorders.  Dent Update 39(9):654-5

Murphy JL; Ratnaike TE; Shang E; Falkous G; Blakely EL; Alston CL; Taivassalo T; Haller RG; Taylor RW; Turnbull DM, 2012. Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy.  Neuromuscul Disord 22(8):690-8

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, 2012. Clonally expanded mitochondrial DNA deletions within the choroid plexus in multiple sclerosis.  Acta Neuropathol 124(2):209-20

Bates MG; Bourke JP; Giordano C; d'Amati G; Turnbull DM; Taylor RW, 2012. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.  Eur Heart J 33(24):3023-33

Pfeffer G; Majamaa K; Turnbull DM; Thorburn D; Chinnery PF, 2012. Treatment for mitochondrial disorders.  Cochrane Database Syst Rev.

Greaves LC; Elson JL; Nooteboom M; Grady JP; Taylor GA; Taylor RW; Mathers JC; Kirkwood TB; Turnbull DM, 2012. 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 Genet 8(11):e1003082

Neeve VC; Samuels DC; Bindoff LA; van den Bosch B; Van Goethem G; Smeets H; Lombès A; Jardel C; Hirano M; Dimauro S; De Vries M; Smeitink J; Smits BW; de Coo IF; Saft C; Klopstock T; Keiling BC; Czermin B; Abicht A; Lochmüller H; Hudson G; Gorman GG; Turnbull DM; Taylor RW; Holinski-Feder E; Chinnery PF; Horvath R, 2012. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?  Brain 135(Pt 12):3614-26

Apabhai S; Gorman GS; Sutton L; Elson JL; Plötz T; Turnbull DM; Trenell MI, 2011. Habitual physical activity in mitochondrial disease.  PLoS One 6(7):e22294

Swalwell H; Kirby DM; Blakely EL; Mitchell A; Salemi R; Sugiana C; Compton AG; Tucker EJ; Ke BX; Lamont PJ; Turnbull DM; McFarland R; Taylor RW; Thorburn DR, 2011. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.  Eur J Hum Genet 19(7):769-75

Campbell GR; Ziabreva I; Reeve AK; Krishnan KJ; Reynolds R; Howell O; Lassmann H; Turnbull DM; Mahad DJ, 2011. Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis.  Ann Neurol 69(3):481-92

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 RJ; Mahad DJ, 2011. Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis.  Brain 134(Pt 7):1901-13

Alston CL; He L; Morris AA; Hughes I; de Goede C; Turnbull DM; McFarland R; Taylor RW, 2011. Maternally inherited mitochondrial DNA disease in consanguineous families.  Eur J Hum Genet 19(12):1226-9

Craven L; Elson JL; Irving L; Tuppen HA; Lister LM; Greggains GD; Byerley S; Murdoch AP; Herbert M; Turnbull D, 2011. Mitochondrial DNA disease: new options for prevention.  Hum Mol Genet 20(R2):R168-74

Turnbull D, 2011. A new biomarker for mitochondrial disease.  Lancet Neurol 10(9):777-8

Say RE; Whittaker RG; Turnbull HE; McFarland R; Taylor RW; Turnbull DM, 2011. Mitochondrial disease in pregnancy: a systematic review.  Obstet Med 4(3):90-4

Blackwood JK; Williamson SC; Greaves LC; Wilson L; Rigas AC; Sandher R; Pickard RS; Robson CN; Turnbull DM; Taylor RW; Heer R, 2011. In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells.  J Pathol 225(2):181-8

Greaves LC; Barron MJ; Campbell-Shiel G; Kirkwood TB; Turnbull DM, 2011. Differences in the accumulation of mitochondrial defects with age in mice and humans.  Mech Ageing Dev 132(11-12):588-91

Lax NZ; Turnbull DM; Reeve AK, 2011. Mitochondrial mutations: newly discovered players in neuronal degeneration.  Neuroscientist 17(6):645-58

Greaves LC; Yu-Wai-Man P; Blakely EL; Krishnan KJ; Beadle NE; Kerin J; Barron MJ; Griffiths PG; Dickinson AJ; Turnbull DM; Taylor RW, 2010. Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.  Invest Ophthalmol Vis Sci 51(7):3340-6

Turnbull HE; Lax NZ; Diodato D; Ansorge O; Turnbull DM, 2010. The mitochondrial brain: From mitochondrial genome to neurodegeneration.  Biochim Biophys Acta 1802(1):111-21

Tuppen HA; Blakely EL; Turnbull DM; Taylor RW, 2010. Mitochondrial DNA mutations and human disease.  Biochim Biophys Acta 1797(2):113-28

Nooteboom M; Johnson R; Taylor RW; Wright NA; Lightowlers RN; Kirkwood TB; Mathers JC; Turnbull DM; Greaves LC, 2010. Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts.  Aging Cell 9(1):96-9

Greaves LC; Barron MJ; Plusa S; Kirkwood TB; Mathers JC; Taylor RW; Turnbull DM, 2010. Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts.  Exp Gerontol 45(7-8):573-9

Yu-Wai-Man P; Griffiths PG; Gorman GS; Lourenco CM; Wright AF; Auer-Grumbach M; Toscano A; Musumeci O; Valentino ML; Caporali L; Lamperti C; Tallaksen CM; Duffey P; Miller J; Whittaker RG; Baker MR; Jackson MJ; Clarke MP; Dhillon B; Czermin B; Stewart JD; Hudson G; Reynier P; Bonneau D; Marques W Jr; Lenaers G; McFarland R; Taylor RW; Turnbull DM; Votruba M; Zeviani M; Carelli V; Bindoff LA; Horvath R; Amati-Bonneau P; Chinnery PF, 2010. Multi-system neurological disease is common in patients with OPA1 mutations.  Brain 133(Pt 3):771-86

Yu-Wai-Man P; Lai-Cheong J; Borthwick GM; He L; Taylor GA; Greaves LC; Taylor RW; Griffiths PG; Turnbull DM, 2010. Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.  Invest Ophthalmol Vis Sci 51(7):3347-53

Blackwood JK; Whittaker RG; Blakely EL; Alston CL; Turnbull DM; Taylor RW, 2010. The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells.  Biochem Biophys Res Commun 393(4):740-5

Trevelyan AJ; Kirby DM; Smulders-Srinivasan TK; Nooteboom M; Acin-Perez R; Enriquez JA; Whittington MA; Lightowlers RN; Turnbull DM, 2010. Mitochondrial DNA mutations affect calcium handling in differentiated neurons.  Brain 133(Pt 3):787-96

Krishnan KJ; Blackwood JK; Reeve AK; Turnbull DM; Taylor RW, 2010. Detection of mitochondrial DNA variation in human cells.  Methods Mol Biol 628:227-57

Craven L; Tuppen HA; Greggains GD; Harbottle SJ; Murphy JL; Cree LM; Murdoch AP; Chinnery PF; Taylor RW; Lightowlers RN; Herbert M; Turnbull DM, 2010. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.  Nature 465(7294):82-5

Tuppen HA; Fehmi J; Czermin B; Goffrini P; Meloni F; Ferrero I; He L; Blakely EL; McFarland R; Horvath R; Turnbull DM; Taylor RW, 2010. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.  Mol Genet Metab 100(4):345-8

Alston CL; Lowe J; Turnbull DM; Maddison P; Taylor RW, 2010. A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.  J Neurol Sci 298(1-2):140-4

Krishnan KJ; Turnbull DM, 2010. Mitochondrial DNA and genetic disease.  Essays Biochem 47:139-51

McFarland R; Taylor RW; Turnbull DM, 2010. A neurological perspective on mitochondrial disease.  Lancet Neurol 9(8):829-40

Hogan V; White K; Edgar J; McGill A; Karim S; McLaughlin M; Griffiths I; Turnbull D; Nichols P, 2009. Increase in mitochondrial density within axons and supporting cells in response to demyelination in the Plp1 mouse model.  J Neurosci Res 87(2):452-9

Whittaker RG; Turnbull DM, 2009. A diagnostic tattoo.  Clin Genet 75(1):37-8

McFarland R; Turnbull DM, 2009. Batteries not included: diagnosis and management of mitochondrial disease.  J Intern Med 265(2):210-28

Whittaker RG; Blackwood JK; Alston CL; Blakely EL; Elson JL; McFarland R; Chinnery PF; Turnbull DM; Taylor RW, 2009. Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.  Neurology 72(6):568-9

White KE; Davies VJ; Hogan VE; Piechota MJ; Nichols PP; Turnbull DM; Votruba M, 2009. OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.  Invest Ophthalmol Vis Sci 50(6):2567-71

Stewart JD; Tennant S; Powell H; Pyle A; Blakely EL; He L; Hudson G; Roberts M; du Plessis D; Gow D; Mewasingh LD; Hanna MG; Omer S; Morris AA; Roxburgh R; Livingston JH; McFarland R; Turnbull DM; Chinnery PF; Taylor RW, 2009. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.  J Med Genet 46(3):209-14

Blakely EL; Trip SA; Swalwell H; He L; Wren DR; Rich P; Turnbull DM; Omer SE; Taylor RW, 2009. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.  Arch Neurol 66(3):399-402

Mahad DJ; Ziabreva I; Campbell G; Lax N; White K; Hanson PS; Lassmann H; Turnbull DM, 2009. Mitochondrial changes within axons in multiple sclerosis.  Brain 132(Pt 5):1161-74

Greaves LC; Turnbull DM, 2009. Mitochondrial DNA mutations and ageing.  Biochim Biophys Acta 1790(10):1015-20

Aitken H; Gorman G; McFarland R; Roberts M; Taylor RW; Turnbull DM, 2009. Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.  Neurology 72(18):e86-90

Reeve AK; Krishnan KJ; Taylor G; Elson JL; Bender A; Taylor RW; Morris CM; Turnbull DM, 2009. The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons.  Aging Cell 8(4):496-8

Kirby DM; Rennie KJ; Smulders-Srinivasan TK; Acin-Perez R; Whittington M; Enriquez JA; Trevelyan AJ; Turnbull DM; Lightowlers RN, 2009. Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation.  Cell Prolif 42(4):413-24

Greaves LC; Beadle NE; Taylor GA; Commane D; Mathers JC; Khrapko K; Turnbull DM, 2009. Quantification of mitochondrial DNA mutation load.  Aging Cell 8(5):566-72

Elson JL; Swalwell H; Blakely EL; McFarland R; Taylor RW; Turnbull DM, 2009. Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?  Hum Mutat 30(11):E984-92

Mahad DJ; Ziabreva I; Campbell G; Laulund F; Murphy JL; Reeve AK; Greaves L; Smith KJ; Turnbull DM, 2009. Detection of cytochrome c oxidase activity and mitochondrial proteins in single cells.  J Neurosci Methods 184(2):310-9

Al-Dosary M; Whittaker RG; Haughton J; McFarland R; Goodship J; Turnbull DM; Taylor RW, 2009. Neuromuscular disease presentation with three genetic defects involving two genomes.  Neuromuscul Disord 19(12):841-4

McFarland R; Swalwell H; Blakely EL; He L; Groen EJ; Turnbull DM; Bushby KM; Taylor RW, 2008. The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.  Neuromuscul Disord 18(1):63-7

Schaefer AM; McFarland R; Blakely EL; He L; Whittaker RG; Taylor RW; Chinnery PF; Turnbull DM, 2008. Prevalence of mitochondrial DNA disease in adults.  Ann Neurol 63(1):35-9

Brown AE; Elstner M; Yeaman SJ; Turnbull DM; Walker M, 2008. Does impaired mitochondrial function affect insulin signaling and action in cultured human skeletal muscle cells?  Am J Physiol Endocrinol Metab 294(1):E97-102

Swalwell H; Blakely EL; Sutton R; Tonska K; Elstner M; He L; Taivassalo T; Burns DK; Turnbull DM; Haller RG; Davidson MM; Taylor RW, 2008. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?  Eur J Hum Genet 16(10):1265-74

Hudson G; Amati-Bonneau P; Blakely EL; Stewart JD; He L; Schaefer AM; Griffiths PG; Ahlqvist K; Suomalainen A; Reynier P; McFarland R; Turnbull DM; Chinnery PF; Taylor RW, 2008. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.  Brain 131(Pt 2):329-37

Reeve AK; Krishnan KJ; Elson JL; Morris CM; Bender A; Lightowlers RN; Turnbull DM, 2008. Nature of mitochondrial DNA deletions in substantia nigra neurons.  Am J Hum Genet 82(1):228-35

Krishnan KJ; Reeve AK; Samuels DC; Chinnery PF; Blackwood JK; Taylor RW; Wanrooij S; Spelbrink JN; Lightowlers RN; Turnbull DM, 2008. What causes mitochondrial DNA deletions in human cells?  Nat Genet 40(3):275-9

Betts J; Barron MJ; Needham SJ; Schaefer AM; Taylor RW; Turnbull DM, 2008. Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation.  Neurology 70(15):1290-2

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, 2008. OPA1 in multiple mitochondrial DNA deletion disorders.  Neurology 71(22):1829-31

Rorbach J; Yusoff AA; Tuppen H; Abg-Kamaludin DP; Chrzanowska-Lightowlers ZM; Taylor RW; Turnbull DM; McFarland R; Lightowlers RN, 2008. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.  Nucleic Acids Res 36(9):3065-74

Reeve AK; Krishnan KJ; Turnbull DM, 2008. Age related mitochondrial degenerative disorders in humans.  Biotechnol J 3(6):750-6

Mahad D; Ziabreva I; Lassmann H; Turnbull D, 2008. Mitochondrial defects in acute multiple sclerosis lesions.  Brain 131(Pt 7):1722-35

Cree LM; Patel SK; Pyle A; Lynn S; Turnbull DM; Chinnery PF; Walker M, 2008. Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets.  Diabetologia 51(8):1440-3

Kennelly MM; Baker MR; Birchall D; Hanley JP; Turnbull DM; Loughney AD, 2008. Hyperemesis gravidarum and first trimester sagittal sinus thrombosis.  J Obstet Gynaecol 28(4):453-4

Murphy JL; Blakely EL; Schaefer AM; He L; Wyrick P; Haller RG; Taylor RW; Turnbull DM; Taivassalo T, 2008. Resistance training in patients with single, large-scale deletions of mitochondrial DNA.  Brain 131(Pt 11):2832-40

Blakely E; He L; Gardner JL; Hudson G; Walter J; Hughes I; Turnbull DM; Taylor RW, 2008. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.  Neuromuscul Disord 18(7):557-60

Reeve AK; Krishnan KJ; Turnbull D, 2008. Mitochondrial DNA mutations in disease, aging, and neurodegeneration.  Ann N Y Acad Sci 1147:21-9

Mahad D; Lassmann H; Turnbull D, 2008. Review: Mitochondria and disease progression in multiple sclerosis.  Neuropathol Appl Neurobiol 34(6):577-89

Gardner JL; Craven L; Turnbull DM; Taylor RW, 2007. Experimental strategies towards treating mitochondrial DNA disorders.  Biosci Rep 27(1-3):139-50

Phoenix C; Taylor GA; Hartley J; Nixon H; Ince PG; Shaw PJ; Turnbull DM; Taylor RW, 2007. Investigation of the mitochondrial genome in patients with atypical motor neuron disease.  J Neurol 254(4):482-7

Hudson G; Schaefer AM; Taylor RW; Tiangyou W; Gibson A; Venables G; Griffiths P; Burn DJ; Turnbull DM; Chinnery PF, 2007. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.  Arch Neurol 64(4):553-7

Kirby DM; Thorburn DR; Turnbull DM; Taylor RW, 2007. Biochemical assays of respiratory chain complex activity.  Methods Cell Biol 80:93-119

Krishnan KJ; Greaves LC; Reeve AK; Turnbull DM, 2007. Mitochondrial DNA mutations and aging.  Ann N Y Acad Sci 1100:227-40

Elson JL; Turnbull DM; Taylor RW, 2007. Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach.  Biochem J 404(2):e3-5

McFarland R; Taylor RW; Turnbull DM, 2007. Mitochondrial disease--its impact, etiology, and pathology.  Curr Top Dev Biol 77:113-55

Whittaker RG; Schaefer AM; McFarland R; Taylor RW; Walker M; Turnbull DM, 2007. Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?  Diabetes Care 30(9):2238-9

Krishnan KJ; Bender A; Taylor RW; Turnbull DM, 2007. A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells.  Anal Biochem 370(1):127-9

Taylor RW; Turnbull DM, 2007. Mitochondrial DNA transcription: regulating the power supply.  Cell 130(2):211-3

McFarland R; Chinnery PF; Blakely EL; Schaefer AM; Morris AA; Foster SM; Tuppen HA; Ramesh V; Dorman PJ; Turnbull DM; Taylor RW, 2007. Homoplasmy, heteroplasmy, and mitochondrial dystonia.  Neurology 69(9):911-6

Krishnan KJ; Greaves LC; Reeve AK; Turnbull D, 2007. The ageing mitochondrial genome.  Nucleic Acids Res 35(22):7399-405

Krishnan KJ; Reeve AK; Turnbull DM, 2007. Do mitochondrial DNA mutations have a role in neurodegenerative disease?  Biochem Soc Trans 35(Pt 5):1232-5

Whittaker RG; Schaefer AM; McFarland R; Taylor RW; Walker M; Turnbull DM, 2007. Prevalence and progression of diabetes in mitochondrial disease.  Diabetologia 50(10):2085-9

Andrews H; White K; Thomson C; Edgar J; Bates D; Griffiths I; Turnbull D; Nichols P, 2006. Increased axonal mitochondrial activity as an adaptation to myelin deficiency in the Shiverer mouse.  J Neurosci Res 83(8):1533-9

Borthwick GM; Taylor RW; Walls TJ; Tonska K; Taylor GA; Shaw PJ; Ince PG; Turnbull DM, 2006. Motor neuron disease in a patient with a mitochondrial tRNAIle mutation.  Ann Neurol 59(3):570-4

Greaves LC; Preston SL; Tadrous PJ; Taylor RW; Barron MJ; Oukrif D; Leedham SJ; Deheragoda M; Sasieni P; Novelli MR; Jankowski JA; Turnbull DM; Wright NA; McDonald SA, 2006. Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.  Proc Natl Acad Sci U S A 103(3):714-9

Elson JL; Herrnstadt C; Preston G; Thal L; Morris CM; Edwardson JA; Beal MF; Turnbull DM; Howell N, 2006. Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?  Hum Genet 119(3):241-54

Chinnery P; Majamaa K; Turnbull D; Thorburn D, 2006. Treatment for mitochondrial disorders.  Cochrane Database Syst Rev.

Swalwell H; Deschauer M; Hartl H; Strauss M; Turnbull DM; Zierz S; Taylor RW, 2006. Pure myopathy associated with a novel mitochondrial tRNA gene mutation.  Neurology 66(3):447-9

Blakely EL; Rennie KJ; Jones L; Elstner M; Chrzanowska-Lightowlers ZM; White CB; Shield JP; Pilz DT; Turnbull DM; Poulton J; Taylor RW, 2006. Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis.  Pediatr Res 59(3):440-4

Andrews R; Ressiniotis T; Turnbull DM; Birch M; Keers S; Chinnery PF; Griffiths PG, 2006. The role of mitochondrial haplogroups in primary open angle glaucoma.  Br J Ophthalmol 90(4):488-90

Hudson G; Deschauer M; Taylor RW; Hanna MG; Fialho D; Schaefer AM; He LP; Blakely E; Turnbull DM; Chinnery PF, 2006. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.  Neurology 66(9):1439-41

Bender A; Krishnan KJ; Morris CM; Taylor GA; Reeve AK; Perry RH; Jaros E; Hersheson JS; Betts J; Klopstock T; Taylor RW; Turnbull DM, 2006. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease.  Nat Genet 38(5):515-7

Schaefer AM; Phoenix C; Elson JL; McFarland R; Chinnery PF; Turnbull DM, 2006. Mitochondrial disease in adults: a scale to monitor progression and treatment.  Neurology 66(12):1932-4

Brown DT; Herbert M; Lamb VK; Chinnery PF; Taylor RW; Lightowlers RN; Craven L; Cree L; Gardner JL; Turnbull DM, 2006. Transmission of mitochondrial DNA disorders: possibilities for the future.  Lancet 368(9529):87-9

Betts J; Jaros E; Perry RH; Schaefer AM; Taylor RW; Abdel-All Z; Lightowlers RN; Turnbull DM, 2006. Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement.  Neuropathol Appl Neurobiol 32(4):359-73

Pye D; Kyriakouli DS; Taylor GA; Johnson R; Elstner M; Meunier B; Chrzanowska-Lightowlers ZM; Taylor RW; Turnbull DM; Lightowlers RN, 2006. Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.  Nucleic Acids Res 34(13):e95

Durham SE; Brown DT; Turnbull DM; Chinnery PF, 2006. Progressive depletion of mtDNA in mitochondrial myopathy.  Neurology 67(3):502-4

Phoenix C; Schaefer AM; Elson JL; Morava E; Bugiani M; Uziel G; Smeitink JA; Turnbull DM; McFarland R, 2006. A scale to monitor progression and treatment of mitochondrial disease in children.  Neuromuscul Disord 16(12):814-20

Yu Wai Man CY; Smith T; Chinnery PF; Turnbull DM; Griffiths PG, 2006. Assessment of visual function in chronic progressive external ophthalmoplegia.  Eye (Lond) 20(5):564-8

Richardson C; Smith T; Schaefer A; Turnbull D; Griffiths P, 2005. Ocular motility findings in chronic progressive external ophthalmoplegia.  Eye (Lond) 19(3):258-63

McGill A; Frank A; Emmett N; Turnbull DM; Birch-Machin MA; Reynolds NJ, 2005. 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 J 19(8):1012-4

Blakely EL; de Silva R; King A; Schwarzer V; Harrower T; Dawidek G; Turnbull DM; Taylor RW, 2005. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.  Eur J Hum Genet 13(5):623-7

Andrews HE; Nichols PP; Bates D; Turnbull DM, 2005. Mitochondrial dysfunction plays a key role in progressive axonal loss in Multiple Sclerosis.  Med Hypotheses 64(4):669-77

Schaefer AM; Blakely EL; Griffiths PG; Turnbull DM; Taylor RW, 2005. Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.  Muscle Nerve 32(1):104-7

Baudouin SV; Saunders D; Tiangyou W; Elson JL; Poynter J; Pyle A; Keers S; Turnbull DM; Howell N; Chinnery PF, 2005. Mitochondrial DNA and survival after sepsis: a prospective study.  Lancet 366(9503):2118-21

Taylor RW; Turnbull DM, 2005. Mitochondrial DNA mutations in human disease.  Nat Rev Genet 6(5):389-402

Walker M; Taylor RW; Turnbull DM, 2005. Mitochondrial diabetes.  Diabet Med 22 Suppl 4:18-20

Barron MJ; Chinnery PF; Howel D; Blakely EL; Schaefer AM; Taylor RW; Turnbull DM, 2005. Cytochrome c oxidase deficient muscle fibres: substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy.  Neuromuscul Disord 15(11):768-74

Blakely EL; Mitchell AL; Fisher N; Meunier B; Nijtmans LG; Schaefer AM; Jackson MJ; Turnbull DM; Taylor RW, 2005. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.  FEBS J 272(14):3583-92

Maniura-Weber K; Taylor RW; Johnson MA; Chrzanowska-Lightowlers Z; Morris AA; Charlton CP; Turnbull DM; Bindoff LA, 2004. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.  Eur J Hum Genet 12(6):509-12

McFarland R; Kirby DM; Fowler KJ; Ohtake A; Ryan MT; Amor DJ; Fletcher JM; Dixon JW; Collins FA; Turnbull DM; Taylor RW; Thorburn DR, 2004. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.  Ann Neurol 55(1):58-64

McFarland R; Taylor RW; Chinnery PF; Howell N; Turnbull DM, 2004. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.  Neuromuscul Disord 14(2):162-6

Barron MJ; Griffiths P; Turnbull DM; Bates D; Nichols P, 2004. The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head.  Br J Ophthalmol 88(2):286-90

Blakely EL; He L; Taylor RW; Chinnery PF; Lightowlers RN; Schaefer AM; Turnbull DM, 2004. Mitochondrial DNA deletion in "identical" twin brothers.  J Med Genet 41(2):e19

Taylor RW; Schaefer AM; Barron MJ; McFarland R; Turnbull DM, 2004. The diagnosis of mitochondrial muscle disease.  Neuromuscul Disord 14(4):237-45

Betts J; Lightowlers RN; Turnbull DM, 2004. Neuropathological aspects of mitochondrial DNA disease.  Neurochem Res 29(3):505-11

McFarland R; Schaefer AM; Gardner JL; Lynn S; Hayes CM; Barron MJ; Walker M; Chinnery PF; Taylor RW; Turnbull DM, 2004. Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.  Ann Neurol 55(4):478-84

Elson JL; Turnbull DM; Howell N, 2004. Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.  Am J Hum Genet 74(2):229-38

Pye D; Watt DJ; Walker C; Lightowlers RN; Turnbull DM, 2004. Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease.  Neuromuscul Disord 14(5):329-36

McDonnell MT; Schaefer AM; Blakely EL; McFarland R; Chinnery PF; Turnbull DM; Taylor RW, 2004. Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.  Eur J Hum Genet 12(9):778-81

Bidooki S; Jackson MJ; Johnson MA; Chrzanowska-Lightowlers ZM; Taylor RW; Venables G; Lightowlers RN; Turnbull DM; Bindoff LA, 2004. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.  Neuromuscul Disord 14(7):417-20

Chinnery PF; DiMauro S; Shanske S; Schon EA; Zeviani M; Mariotti C; Carrara F; Lombes A; Laforet P; Ogier H; Jaksch M; Lochmüller H; Horvath R; Deschauer M; Thorburn DR; Bindoff LA; Poulton J; Taylor RW; Matthews JN; Turnbull DM, 2004. Risk of developing a mitochondrial DNA deletion disorder.  Lancet 364(9434):592-6

Blakely EL; Poulton J; Pike M; Wojnarowska F; Turnbull DM; McFarland R; Taylor RW, 2004. Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.  J Neurol Sci 225(1-2):99-103

McFarland R; Elson JL; Taylor RW; Howell N; Turnbull DM, 2004. Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.  Trends Genet 20(12):591-6

Schaefer AM; Taylor RW; Turnbull DM; Chinnery PF, 2004. The epidemiology of mitochondrial disorders--past, present and future.  Biochim Biophys Acta 1659(2-3):115-20

Smith PM; Ross GF; Taylor RW; Turnbull DM; Lightowlers RN, 2004. Strategies for treating disorders of the mitochondrial genome.  Biochim Biophys Acta 1659(2-3):232-9

Taylor RW; Schaefer AM; McDonnell MT; Petty RK; Thomas AM; Blakely EL; Hayes CM; McFarland R; Turnbull DM, 2004. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.  Neurology 62(8):1420-3

Taylor RW; Jobling MS; Turnbull DM; Chinnery PF, 2003. Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy.  J Med Genet 40(7):e85

Y-W-Man P; Griffiths PG; Brown DT; Howell N; Turnbull DM; Chinnery PF, 2003. The epidemiology of Leber hereditary optic neuropathy in the North East of England.  Am J Hum Genet 72(2):333-9

Lynn S; Borthwick GM; Charnley RM; Walker M; Turnbull DM, 2003. Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells.  Diabetologia 46(2):296-9

Wardell TM; Ferguson E; Chinnery PF; Borthwick GM; Taylor RW; Jackson G; Craft A; Lightowlers RN; Howell N; Turnbull DM, 2003. Changes in the human mitochondrial genome after treatment of malignant disease.  Mutat Res 525(1-2):19-27

Deschauer M; Bamberg C; Claus D; Zierz S; Turnbull DM; Taylor RW, 2003. Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.  Neurology 60(8):1357-9

Chinnery PF; Howel D; Turnbull DM; Johnson MA, 2003. Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres.  J Neurol Sci 211(1-2):63-6

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, 2003. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.  J Am Coll Cardiol 41(10):1786-96

Ross GF; Smith PM; McGregor A; Turnbull DM; Lightowlers RN, 2003. Synthesis of trifunctional PNA-benzophenone derivatives for mitochondrial targeting, selective DNA binding, and photo-cross-linking.  Bioconjug Chem 14(5):962-6

Deschauer M; Kiefer R; Blakely EL; He L; Zierz S; Turnbull DM; Taylor RW, 2003. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.  Neuromuscul Disord 13(7-8):568-72

Taylor RW; McDonnell MT; Blakely EL; Chinnery PF; Taylor GA; Howell N; Zeviani M; Briem E; Carrara F; Turnbull DM, 2003. Genotypes from patients indicate no paternal mitochondrial DNA contribution.  Ann Neurol 54(4):521-4

McGregor A; Smith PM; Ross GF; Taylor RW; Turnbull DM; Lightowlers RN, 2003. Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired.  Biochim Biophys Acta 1629(1-3):73-83

He L; Luo L; Proctor SJ; Middleton PG; Blakely EL; Taylor RW; Turnbull DM, 2003. Somatic mitochondrial DNA mutations in adult-onset leukaemia.  Leukemia 17(12):2487-91

Taylor RW; Barron MJ; Borthwick GM; Gospel A; Chinnery PF; Samuels DC; Taylor GA; Plusa SM; Needham SJ; Greaves LC; Kirkwood TB; Turnbull DM, 2003. Mitochondrial DNA mutations in human colonic crypt stem cells.  J Clin Invest 112(9):1351-60

Lynn S; Evans JC; White C; Frayling TM; Hattersley AT; Turnbull DM; Horikawa Y; Cox NJ; Bell GI; Walker M, 2002. Variation in the calpain-10 gene affects blood glucose levels in the British population.  Diabetes 51(1):247-50

Choo-Kang AT; Lynn S; Taylor GA; Daly ME; Sihota SS; Wardell TM; Chinnery PF; Turnbull DM; Walker M, 2002. Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.  Diabetes 51(7):2317-20

McFarland R; Clark KM; Morris AA; Taylor RW; Macphail S; Lightowlers RN; Turnbull DM, 2002. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.  Nat Genet 30(2):145-6

Y-W-Man P; Turnbull DM; Chinnery PF, 2002. Leber hereditary optic neuropathy.  J Med Genet 39(3):162-9

Taylor RW; Morris AA; Hutchinson M; Turnbull DM, 2002. Leigh disease associated with a novel mitochondrial DNA ND5 mutation.  Eur J Hum Genet 10(2):141-4

Bristow EA; Griffiths PG; Andrews RM; Johnson MA; Turnbull DM, 2002. The distribution of mitochondrial activity in relation to optic nerve structure.  Arch Ophthalmol 120(6):791-6

Y-W-Man P; Brown DT; Wehnert MS; Zeviani M; Carrara F; Turnbull DM; Chinnery PF, 2002. NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.  Neurology 58(12):1861-2

Tyni T; Pourfarzam M; Turnbull DM, 2002. 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.  Pediatr Res 52(1):64-70

He L; Chinnery PF; Durham SE; Blakely EL; Wardell TM; Borthwick GM; Taylor RW; Turnbull DM, 2002. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.  Nucleic Acids Res 30(14):e68

Cottrell DA; Borthwick GM; Johnson MA; Ince PG; Turnbull DM, 2002. The role of cytochrome c oxidase deficient hippocampal neurones in Alzheimer's disease.  Neuropathol Appl Neurobiol 28(5):390-6

Spiropoulos J; Turnbull DM; Chinnery PF, 2002. Can mitochondrial DNA mutations cause sperm dysfunction?  Mol Hum Reprod 8(8):719-21

McFarland R; Taylor RW; Turnbull DM, 2002. The neurology of mitochondrial DNA disease.  Lancet Neurol 1(6):343-51

Elson JL; Samuels DC; Johnson MA; Turnbull DM; Chinnery PF, 2002. The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy.  Neuromuscul Disord 12(9):858-64

Chinnery PF; Samuels DC; Elson J; Turnbull DM, 2002. Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?  Lancet 360(9342):1323-5

Tyni T; Johnson M; Eaton S; Pourfarzam M; Andrews R; Turnbull DM, 2002. Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium.  Pediatr Res 52(4):595-600

Cottrell DA; Turnbull DM, 2002. The mitochondrial genome, aging and neurodegenerative disorders.  Nestle Nutr Workshop Ser Clin Perform Programme 6:1-13; discussion 13-6

Taylor RW; Schaefer AM; McFarland R; Maddison P; Turnbull DM, 2002. A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.  Neuromuscul Disord 12(7-8):659-664

Elson JL; Andrews RM; Chinnery PF; Lightowlers RN; Turnbull DM; Howell N, 2001. Analysis of European mtDNAs for recombination.  Am J Hum Genet 68(1):145-153

Chinnery PF; Jones S; Sviland L; Andrews RM; Parsons TJ; Turnbull DM; Bindoff LA, 2001. Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract.  Gut 48(1):121-4

Birch-Machin MA; Turnbull DM, 2001. Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues.  Methods Cell Biol 65:97-117

Brown DT; Samuels DC; Michael EM; Turnbull DM; Chinnery PF, 2001. Random genetic drift determines the level of mutant mtDNA in human primary oocytes.  Am J Hum Genet 68(2):533-6

Chinnery PF; Taylor GA; Howell N; Brown DT; Parsons TJ; Turnbull DM, 2001. Point mutations of the mtDNA control region in normal and neurodegenerative human brains.  Am J Hum Genet 68(2):529-32

Chinnery PF; Brown DT; Andrews RM; Singh-Kler R; Riordan-Eva P; Lindley J; Applegarth DA; Turnbull DM; Howell N, 2001. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.  Brain 124(Pt 1):209-18

Chinnery PF; Andrews RM; Turnbull DM; Howell NN, 2001. Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?  Am J Med Genet 98(3):235-43

Elson JL; Samuels DC; Turnbull DM; Chinnery PF, 2001. Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.  Am J Hum Genet 68(3):802-6

Cottrell DA; Blakely EL; Johnson MA; Borthwick GM; Ince PI; Turnbull DM, 2001. Mitochondrial DNA mutations in disease and ageing.  Novartis Found Symp 235:234-43; discussion 243-6

Taylor RW; Wardell TM; Smith PM; Muratovska A; Murphy MP; Turnbull DM; Lightowlers RN, 2001. An antigenomic strategy for treating heteroplasmic mtDNA disorders.  Adv Drug Deliv Rev 49(1-2):121-5

Cottrell DA; Blakely EL; Johnson MA; Ince PG; Borthwick GM; Turnbull DM, 2001. Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age.  Neurobiol Aging 22(2):265-72

Barron MJ; Johnson MA; Andrews RM; Clarke MP; Griffiths PG; Bristow E; He LP; Durham S; Turnbull DM, 2001. Mitochondrial abnormalities in ageing macular photoreceptors.  Invest Ophthalmol Vis Sci 42(12):3016-22

Cottrell DA; Blakely EL; Johnson MA; Ince PG; Turnbull DM, 2001. Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD.  Neurology 57(2):260-4

Taylor RW; Taylor GA; Durham SE; Turnbull DM, 2001. The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations.  Nucleic Acids Res 29(15):E74-4

Turnbull DM; Lightowlers RN, 2001. Might mammalian mitochondria merge?  Nat Med 7(8):895-6

Cottrell DA; Ince PG; Wardell TM; Turnbull DM; Johnson MA, 2001. Accelerated ageing changes in the choroid plexus of a case with multiple mitochondrial DNA deletions.  Neuropathol Appl Neurobiol 27(3):206-14

Taylor RW; Wardell TM; Connolly BA; Turnbull DM; Lightowlers RN, 2001. Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates.  Nucleic Acids Res 29(16):3404-12

Chinnery PF; Turnbull DM, 2001. Epidemiology and treatment of mitochondrial disorders.  Am J Med Genet 106(1):94-101

Schaefer AM; Taylor RW; Turnbull DM, 2001. The mitochondrial genome and mitochondrial muscle disorders.  Curr Opin Pharmacol 1(3):288-93

Taylor RW; Singh-Kler R; Hayes CM; Smith PE; Turnbull DM, 2001. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.  Ann Neurol 50(1):104-7

Turnbull DM; Lightowlers RN; Taylor RW, 2001. Current perspectives in the treatment of mitochondrial DNA diseases.  Funct Neurol 16(4 Suppl):89-96

Poulton J; Turnbull DM, 2000. 74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands.  Neuromuscul Disord 10(6):460-2

Cottrell DA; Ince PG; Blakely EL; Johnson MA; Chinnery PF; Hanna M; Turnbull DM, 2000. Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder.  J Neuropathol Exp Neurol 59(7):621-7

Taylor RW; Wardell TM; Lightowlers RN; Turnbull DM, 2000. Molecular basis for treatment of mitochondrial myopathies.  Neurol Sci 21(5 Suppl):S909-12

Taylor RW; Andrews RM; Chinnery PF; Turnbull DM, 2000. Analysis of mitochondrial DNA mutations : point mutations.  Methods Mol Med 38:265-77

Taylor RW; Wardell TM; Blakely EL; Borthwick GM; Brierley EJ; Turnbull DM, 2000. Analysis of mitochondrial DNA mutations : deletions.  Methods Mol Med 38:245-64

Jackson S; Bagstaff SM; Lynn S; Yeaman SJ; Turnbull DM; Walker M, 2000. Decreased insulin responsiveness of glucose uptake in cultured human skeletal muscle cells from insulin-resistant nondiabetic relatives of type 2 diabetic families.  Diabetes 49(7):1169-77

Chinnery PF; Taylor GA; Howell N; Andrews RM; Morris CM; Taylor RW; McKeith IG; Perry RH; Edwardson JA; Turnbull DM, 2000. Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.  Neurology 55(2):302-4

Chinnery PF; Thorburn DR; Samuels DC; White SL; Dahl HM; Turnbull DM; Lightowlers RN; Howell N, 2000. The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?  Trends Genet 16(11):500-5

Cottrell DA; Blakely EL; Borthwick GM; Johnson MA; Taylor GA; Brierley EJ; Ince PG; Turnbull DM, 2000. Role of mitochondrial DNA mutations in disease and aging.  Ann N Y Acad Sci 908:199-207

Chinnery PF; Johnson MA; Wardell TM; Singh-Kler R; Hayes C; Brown DT; Taylor RW; Bindoff LA; Turnbull DM, 2000. The epidemiology of pathogenic mitochondrial DNA mutations.  Ann Neurol 48(2):188-93

Birch-Machin MA; Taylor RW; Cochran B; Ackrell BA; Turnbull DM, 2000. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene.  Ann Neurol 48(3):330-5

Taylor RW; Chinnery PF; Turnbull DM; Lightowlers RN, 2000. In-vitro genetic modification of mitochondrial function.  Hum Reprod 15 Suppl 2:79-85

Chinnery PF; Turnbull DM, 2000. Mitochondrial DNA mutations in the pathogenesis of human disease.  Mol Med Today 6(11):425-32

Cottrell DA; Turnbull DM, 2000. Mitochondria and ageing.  Curr Opin Clin Nutr Metab Care 3(6):473-8

Chinnery PF; Elliott C; Green GR; Rees A; Coulthard A; Turnbull DM; Griffiths TD, 2000. The spectrum of hearing loss due to mitochondrial DNA defects.  Brain 123 ( Pt 1):82-92

Andrews RM; Griffiths PG; Johnson MA; Turnbull DM, 1999. Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina.  Br J Ophthalmol 83(2):231-5

Chinnery PF; Zwijnenburg PJ; Walker M; Howell N; Taylor RW; Lightowlers RN; Bindoff L; Turnbull DM, 1999. Nonrandom tissue distribution of mutant mtDNA.  Am J Med Genet 85(5):498-501

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Kato K; Kasuya Y; Mizubayashi R; Miwa K; Yasuda Y; Kamiya H; Hotta N; Bíró K; Kukorelli T; Szilágyi N; Kürthy M; Komáromy A; Mogyorosi T; Nagy K; Çakir M; Baskal N; Güllü S; Elhan AH; Erdogan G; Ziegler D; Piolot R; Neubauer J; Senesi B; Bonetti R; Napolitano A; Canepa F; Ottonello P; Schabmann A; Giménez-Pérez G; Arroyo JA; López T; Ponz E; Mauricio D; Diem P; Zanchin L; Suter SL; Lefrandt JD; Smit A; van Roon AM; Dullaart R; Voita D; Mackevics V; Vitols A; Lengyel C; Farkas G; Török T; Légrády P; Várkonyi TT; Kardos A; Gingl Z; Kempler P; Rudas L; Lonovics J; Marchand M; Stevens LK; Tarnás G; Estrella F; Christensen NJ; Keresztes K; Barna I; Hermányi Z; Vargha P; Bonnevie L; Chanudet X; Larroque P; Tutuncu NB; Deger A; Batur MK; Yildirir A; Onalan O; Aksöyek S; Kabakçι G; Erbaş T; Galicka-Latała D; Surdacki A; Gerritsen J; TenVoorde BJ; Heethaar RM; Tagawa TS; Kodama M; Yoshioka R; Yamasaki Y; Didangelos T; Athyros V; Kontopoulos A; Papageorgiou A; Karamitsos D; Lacigová S; Rušavý Z; Kárová R; Perrild H; Kay L; Jørgensen T; Bień AI; Witek P; Geraldes E; Rodrigues D; Pereira L; Doménech A; Leitão P; Anagnostopoulos D; Foster AV; Nag S; Barsoum M; Lewis G; Dunlop N; Connolly V; Bilous R; Kelly W; Chantelau E; Gede A; Sharman D; O'Halloran D; Best C; Abbas ZG; Lutale J; Gill GV; Jarvis WR; Archibald LK; Corcoran S; Mansell J; Pibworth L; Terada H; Shiba T; Utugi N; Utugi T; Blum M; Strobel J; Höffken K; Razvi FM; Kritzinger EE; Taylor K; Jones S; Illahi W; Grüβer M; Hartmann P; Hoffstadt K; van Leiden HA; Moll AC; Polak BC; Pietragalla GB; Maurino M; Montanaro M; Karadeniz Ş; Tommasini P; Quadrini C; Demiraj V; Rispoli E; Ota A; Takama H; Saito N; Hemández C; Lepore D; Antico L; Giardina B; Franconi F; Michoud E; Chamot S; Riva C; Hammes HP; Renner O; Breier G; Lin J; Alt A; Betzholtz C; Bretzel RG 3rd; Manti R; Gallo M; Molinar Hin A; Brignardello E; Boccuzzi G; Li S; Xiang K; Zhang R; Shangguan X; Wu J; Donnan PT; Broomhall J; Hunter K; Morris AD; Ioannidis G; Peppa M; Rontogianni E; Kallifronas M; Lekatsas I; Chrysanthopoulou G; Anthopoulos L; Kesse M; Thalassinos N; Neves C; Medina JL; Lopes F; Yılmaz M; Güvener N; Güvener M; Kocagöz T; Böke E; Paşaoglu I; Bascil Tutuncu N; Oto A; Karvonen MK; Koulu M; Pesonen U; Mercuri M; Rauramaa R; Rutter MK; Kestevan P; McComb JM; Marshall SM; Sobieska M; Wiktorowicz K; Kanters SD; Banga JD; Algra A; Frijns CJ; Beutler JJ; Fijnheer R; Nicoloff G; Baydanoff S; Stanimirova N; Petrova C; Lario S; Campistol JM; Cases A; Clària J; Iñigo P; Esmatjcs E; Sármán B; Tóth M; Kocsis I; Somogyi A; Bumbure A; Jachimowicz K; Samson J; Tomasiak M; Sobol A; Stańczyk L; Watala C; Stradina P; Wiśniewska-Jarosińska M; Marciniak D; Więcławska B; Watała C; Golański J; Zinnat R; Mahmud I; Büyükasik Y; Demiroğlu H; Szczepanik A; Skowroński M; Murawska A; Meeking DR; Allard S; Munday J; Chowienczyk P; Shaw KM; Cummings MH; Šimková R; Jirsa M; Hadoke PW; McIntyre CA; Jones GC; Williams BC; Elliott AI; McKnight JA; Pernow J; Bombonato GC; Finucci GF; Zotta L; Senses V; Ozyazgan S; Ince E; Tunçdemir M; Oztürk M; Sultuybek G; Akkan AG; Özyazgan S; Unlücerci Y; Bekpınar S; Meyer MF; Lee BC; Shore AC; Humphreys JM; Tooke JE; Dell'Omo G; Giovannitti G; Caricato F; Mariani M; Pedrinelli R; Kiviet-Boehm C; Schwelling V; Matthäei S; Pfohl M; McInerney D; Itoh H; Ohno T; Katoh N; Baumgartner-Parzer S; Artwohl M; Graier W; Ludwig C; Tachi Y; Bannai C; Shinohara M; Shimpuku H; Ohura K; Bertacca A; Sasvári M; Szaleczki E; Pusztai P; Boes U; Klaus E; Dittrich P; Wagner Z; Wittmann I; Pótó L; Wagner L; Mazák I; Nagy J; Feletto F; Taboga C; Tonutti L; Lizzio S; Russo A; Selmo V; Ceriello A; Lekakis J; Papamichael CM; Stamatelopoulos K; Stamatelopoulos S; Yillar DO; Gay M; Lillaz E; Passaro A; Vanini A; Calzoni F; D'Elia K; Carantoni M; Zuliani G; Fellin R; Solini A; Chwatko G; Bald E; Dramais AS; Wallemacq PE; Vandeleene B; Ciaria MV; Ariano M; Strom R; Gibney J; Weiss U; Turner B; O'Gorman P; Watts G; Powrie J; Crook M; Shaw K; Cummings M, 1999. 35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999.  Diabetologia 42(Suppl 1):A1-A330

Clark KM; Taylor RW; Johnson MA; Chinnery PF; Chrzanowska-Lightowlers ZM; Andrews RM; Nelson IP; Wood NW; Lamont PJ; Hanna MG; Lightowlers RN; Turnbull DM, 1999. 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.  Am J Hum Genet 64(5):1330-9

Chinnery PF; Howell N; Andrews RM; Turnbull DM, 1999. Mitochondrial DNA analysis: polymorphisms and pathogenicity.  J Med Genet 36(7):505-10

Chinnery PF; Turnbull DM, 1999. Mitochondrial DNA and disease.  Lancet 354 Suppl 1:SI17-21

Chinnery PF; Howell N; Andrews RM; Turnbull DM, 1999. Clinical mitochondrial genetics.  J Med Genet 36(6):425-36

Spiropoulos J; Chinnery PF; Turnbull DM, 1999. Pathogenic mitochondrial DNA mutations and human reproduction.  Hum Fertil (Camb) 2(2):133-137

Borthwick GM; Johnson MA; Ince PG; Shaw PJ; Turnbull DM, 1999. Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death.  Ann Neurol 46(5):787-90

Andrews RM; Griffiths PG; Chinnery PF; Turnbull DM, 1999. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.  Eye (Lond) 13 ( Pt 6):769-72

Chinnery PF; Taylor RW; Diekert K; Lill R; Turnbull DM; Lightowlers RN, 1999. Peptide nucleic acid delivery to human mitochondria.  Gene Ther 6(12):1919-28

Eddeb F; Mendelow D; Turnbull D; Mantle D, 1998. Differential susceptibility of brain proteins to oxidative damage.  Biochem Soc Trans 26(4):S335

Clark KM; Watt DJ; Lightowlers RN; Johnson MA; Relvas JB; Taanman JW; Turnbull DM, 1998. SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.  J Clin Invest 102(12):2090-5

Morris AA; Turnbull DM, 1998. Fatty acid oxidation defects in muscle.  Curr Opin Neurol 11(5):485-90

Chinnery PF; Howell N; Lightowlers RN; Turnbull DM, 1998. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.  Brain 121 ( Pt 10):1889-94

Lynn S; Wardell T; Johnson MA; Chinnery PF; Daly ME; Walker M; Turnbull DM, 1998. Mitochondrial diabetes: investigation and identification of a novel mutation.  Diabetes 47(11):1800-2

Taylor RW; Taylor GA; Morris CM; Edwardson JM; Turnbull DM, 1998. Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood.  Biochem Biophys Res Commun 251(3):883-7

Chinnery PF; Turnbull DM, 1998. Mitochondrial genotype and clinical phenotype.  J Inherit Metab Dis 21(4):321-5

Taylor RW; Chinnery PF; Bates MJ; Jackson MJ; Johnson MA; Andrews RM; Turnbull DM, 1998. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis.  Biochem Biophys Res Commun 243(1):47-51

Brierley EJ; Johnson MA; Lightowlers RN; James OF; Turnbull DM, 1998. Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle.  Ann Neurol 43(2):217-23

Taylor RW; Chinnery PF; Clark KM; Lightowlers RN; Turnbull DM, 1997. Treatment of mitochondrial disease.  J Bioenerg Biomembr 29(2):195-205

Brierly EJ; Johnson MA; Bowman A; Ford GA; Subhan F; Reed JW; James OF; Turnbull DM, 1997. Mitochondrial function in muscle from elderly athletes.  Ann Neurol 41(1):114-6

Davis M; Whitely T; Turnbull DM; Mendelow AD, 1997. Selective impairments of mitochondrial respiratory chain activity during aging and ischemic brain damage.  Acta Neurochir Suppl 70:56-8

Weber K; Wilson JN; Taylor L; Brierley E; Johnson MA; Turnbull DM; Bindoff LA, 1997. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.  Am J Hum Genet 60(2):373-80

Taylor RW; Chinnery PF; Turnbull DM; Lightowlers RN, 1997. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids.  Nat Genet 15(2):212-5

Adams PL; Lightowlers RN; Turnbull DM, 1997. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.  Ann Neurol 41(2):268-70

Schaefer J; Jackson S; Taroni F; Swift P; Turnbull DM, 1997. Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.  J Neurol Neurosurg Psychiatry 62(2):169-76

Chinnery PF; Johnson MA; Taylor RW; Lightowlers RN; Turnbull DM, 1997. A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis.  Ann Neurol 41(3):408-10

Newkirk JE; Taylor RW; Howell N; Bindoff LA; Chinnery PF; Alberti KG; Turnbull DM; Walker M, 1997. Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population.  Diabet Med 14(6):457-60

Brierley EJ; Johnson MA; James OF; Turnbull DM, 1997. Mitochondrial involvement in the ageing process. Facts and controversies.  Mol Cell Biochem 174(1-2):325-8

Chinnery PF; Reading PJ; Milne D; Gardner-Medwin D; Turnbull DM, 1997. CSF antigliadin antibodies and the Ramsay Hunt syndrome.  Neurology 49(4):1131-3

Chinnery PF; Johnson MA; Taylor RW; Durward WF; Turnbull DM, 1997. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.  Neurology 49(4):1166-8

Chinnery PF; Howell N; Lightowlers RN; Turnbull DM, 1997. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.  Brain 120 ( Pt 10):1713-21

Lightowlers RN; Chinnery PF; Turnbull DM; Howell N, 1997. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease.  Trends Genet 13(11):450-5

Chinnery PF; Turnbull DM, 1997. Mitochondrial medicine.  QJM 90(11):657-67

Chinnery PF; Turnbull DM; Walls TJ; Reading PJ, 1997. Recurrent strokes in a 34-year-old man.  Lancet 350(9077):560

Taylor RW; Printz RL; Armstrong M; Granner DK; Alberti KG; Turnbull DM; Walker M, 1996. Variant sequences of the Hexokinase II gene in familial NIDDM.  Diabetologia 39(3):322-8

Adams PL; Turnbull DM, 1996. Disorders of the electron transport chain.  J Inherit Metab Dis 19(4):463-9

Brierley EJ; Griffiths PG; Weber K; Johnson MA; Turnbull DM, 1996. Normal respiratory chain function in patients with low-tension glaucoma.  Arch Ophthalmol 114(2):142-6

Armstrong M; Haldane F; Taylor RW; Humphriss D; Berrish T; Stewart MW; Turnbull DM; Alberti KG; Walker M, 1996. Human insulin receptor substrate-1: variant sequences in familial non-insulin-dependent diabetes mellitus.  Diabet Med 13(2):133-8

Taylor RW; Birch-Machin MA; Schaefer J; Taylor L; Shakir R; Ackrell BA; Cochran B; Bindoff LA; Jackson MJ; Griffiths P; Turnbull DM, 1996. Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia.  Ann Neurol 39(2):224-32

Taylor RW; Chinnery PF; Haldane F; Morris AA; Bindoff LA; Wilson J; Turnbull DM, 1996. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.  Ann Neurol 40(3):459-62

Brierley EJ; Johnson MA; James OF; Turnbull DM, 1996. Effects of physical activity and age on mitochondrial function.  QJM 89(4):251-8

Armstrong M; Haldane F; Avery PJ; Mitcheson J; Stewart MW; Turnbull DM; Walker M, 1996. Relationship between insulin sensitivity and insulin receptor substrate-1 mutations in non-diabetic relatives of NIDDM families.  Diabet Med 13(4):341-5

Morris AA; Singh-Kler R; Perry RH; Griffiths PD; Burt AD; Wong CP; Gardner-Medwin D; Turnbull DM, 1996. Respiratory chain dysfunction in progressive neuronal degeneration of childhood with liver disease.  J Child Neurol 11(5):417-9

Schaefer J; Jackson S; Dick DJ; Turnbull DM, 1996. Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect.  Ann Neurol 40(4):597-602

Hurel SJ; Rochford JJ; Borthwick AC; Wells AM; Vandenheede JR; Turnbull DM; Yeaman SJ, 1996. Insulin action in cultured human myoblasts: contribution of different signalling pathways to regulation of glycogen synthesis.  Biochem J 320 ( Pt 3):871-7

Turnbull DA; Bevan JR, 1995. The impact of airport de-icing on a river: the case of the Ouseburn, Newcastle upon Tyne.  Environ Pollut 88(3):321-32

Schaefer J; Pourfarzam M; Bartlett K; Jackson S; Turnbull DM, 1995. Fatty acid oxidation in peripheral blood cells: characterization and use for the diagnosis of defects of fatty acid oxidation.  Pediatr Res 37(3):354-60

Jackson MJ; Schaefer JA; Johnson MA; Morris AA; Turnbull DM; Bindoff LA, 1995. Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients.  Brain 118 ( Pt 2):339-57

Morris AA; Taylor RW; Lightowlers RN; Aynsley-Green A; Bartlett K; Turnbull DM, 1995. Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.  Hum Mol Genet 4(4):747-9

Morris AA; Jackson MJ; Bindoff LA; Turnbull DM, 1995. The investigation of mitochondrial respiratory chain disease.  J R Soc Med 88(4):217P-222P

Jackson S; Schaefer J; Middleton B; Turnbull DM, 1995. Characterisation of a novel enzyme of human fatty acid beta-oxidation: a matrix-associated, mitochondrial 2-enoyl-CoA hydratase.  Biochem Biophys Res Commun 214(1):247-53

Borthwick AC; Wells AM; Rochford JJ; Hurel SJ; Turnbull DM; Yeaman SJ, 1995. Inhibition of glycogen synthase kinase-3 by insulin in cultured human skeletal muscle myoblasts.  Biochem Biophys Res Commun 210(3):738-45

Morris AA; Taylor RW; Birch-Machin MA; Jackson MJ; Coulthard MG; Bindoff LA; Welch RJ; Howell N; Turnbull DM, 1995. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain.  Pediatr Nephrol 9(4):407-11

Chrzanowska-Lightowlers ZM; Lightowlers RN; Turnbull DM, 1995. Gene therapy for mitochondrial DNA defects: is it possible?  Gene Ther 2(5):311-6

Eaton S; Turnbull DM; Bartlett K, 1994. Redox control of beta-oxidation in rat liver mitochondria.  Eur J Biochem 220(3):671-81

Ogilvie I; Pourfarzam M; Jackson S; Stockdale C; Bartlett K; Turnbull DM, 1994. Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.  Neurology 44(3 Pt 1):467-73

Birch-Machin MA; Briggs HL; Saborido AA; Bindoff LA; Turnbull DM, 1994. An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.  Biochem Med Metab Biol 51(1):35-42

Morris AA; Farnsworth L; Ackrell BA; Turnbull DM; Birch-Machin MA, 1994. The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase.  Biochim Biophys Acta 1185(1):125-8

Jackson MJ; Bindoff LA; Weber K; Wilson JN; Ince P; Alberti KG; Turnbull DM, 1994. Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.  Diabetes Care 17(7):728-33

Morris AA; Turnbull DM, 1994. Metabolic disorders in children.  Curr Opin Neurol 7(6):535-41

Pourfarzam M; Schaefer J; Turnbull DM; Bartlett K, 1994. Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders.  Clin Chem 40(12):2267-75

Taylor RW; Birch-Machin MA; Bartlett K; Lowerson SA; Turnbull DM, 1994. 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 269(5):3523-8

Chrzanowska-Lightowlers ZM; Turnbull DM; Bindoff LA; Lightowlers RN, 1993. An antisense oligodeoxynucleotide approach to investigate the function of the nuclear-encoded subunits of human cytochrome c oxidase.  Biochem Biophys Res Commun 196(1):328-35

Chrzanowska-Lightowlers ZM; Turnbull DM; Lightowlers RN, 1993. A microtiter plate assay for cytochrome c oxidase in permeabilized whole cells.  Anal Biochem 214(1):45-9

Bindoff LA; Howell N; Poulton J; McCullough DA; Morten KJ; Lightowlers RN; Turnbull DM; Weber K, 1993. Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.  J Biol Chem 268(26):19559-64

Taylor RW; Birch-Machin MA; Lowerson S; Sherratt HS; West IC; Bartlett K; Turnbull DM, 1993. Defects of oxidative phosphorylation in man.  Biochem Soc Trans 21 ( Pt 3)(3):804-7

Taylor RW; Birch-Machin MA; Bartlett K; Turnbull DM, 1993. Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain.  Biochim Biophys Acta 1181(3):261-5

Eaton S; Bhuiyan AK; Kler RS; Turnbull DM; Bartlett K, 1993. Intramitochondrial control of the oxidation of hexadecanoate in skeletal muscle. A study of the acyl-CoA esters which accumulate during rat skeletal-muscle mitochondrial beta-oxidation of [U-14C]hexadecanoate and [U-14C]hexadecanoyl-carnitine.  Biochem J 289 ( Pt 1):161-8

Johnson MA; Bindoff LA; Turnbull DM, 1993. Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications.  Ann Neurol 33(1):28-35

Kler RS; Sherratt HS; Turnbull DM, 1992. The measurement of mitochondrial beta-oxidation by release of 3H2O from [9,10-3H]hexadecanoate: application to skeletal muscle and the use of inhibitors as models of metabolic disease.  Biochem Med Metab Biol 47(2):145-56

Taylor RW; Jackson S; Pourfarzam M; Bartlett K; Turnbull DM, 1992. Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets.  J Inherit Metab Dis 15(5):727-32

Jackson S; Kler RS; Bartlett K; Pourfarzam M; Aynsley-Green A; Bindoff LA; Turnbull DM, 1992. Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase.  Prog Clin Biol Res 375:327-37

Bhuiyan AK; Jackson S; Turnbull DM; Aynsley-Green A; Leonard JV; Bartlett K, 1992. The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation.  Clin Chim Acta 207(3):185-204

Birch-Machin MA; Farnsworth L; Ackrell BA; Cochran B; Jackson S; Bindoff LA; Aitken A; Diamond AG; Turnbull DM, 1992. The sequence of the flavoprotein subunit of bovine heart succinate dehydrogenase.  J Biol Chem 267(16):11553-8

Lowerson SA; Taylor L; Briggs HL; Turnbull DM, 1992. Measurement of the activity of individual respiratory chain complexes in isolated fibroblast mitochondria.  Anal Biochem 205(2):372-4

Jackson S; Kler RS; Bartlett K; Briggs H; Bindoff LA; Pourfarzam M; Gardner-Medwin D; Turnbull DM, 1992. Combined enzyme defect of mitochondrial fatty acid oxidation.  J Clin Invest 90(4):1219-25

Kler RS; Jackson S; Bartlett K; Bindoff LA; Eaton S; Pourfarzam M; Frerman FE; Goodman SI; Watmough NJ; Turnbull DM, 1991. Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.  J Biol Chem 266(34):22932-8

Ogilvie I; Jackson S; Bartlett K; Turnbull DM, 1991. Immunoreactive enzyme protein in medium-chain acyl-CoA dehydrogenase deficiency.  Biochem Med Metab Biol 46(3):373-9

Howell N; Bindoff LA; McCullough DA; Kubacka I; Poulton J; Mackey D; Taylor L; Turnbull DM, 1991. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.  Am J Hum Genet 49(5):939-50

Kler RS; Sherratt HS; Turnbull DM; Melde K, 1991. Organic aciduria in fasted rats caused by 2-[6-(4-chlorophenoxy)hexyl]oxirane-2-carboxylate (etomoxir).  Biochem Pharmacol 42(8):1637-9

Bindoff LA; Birch-Machin MA; Cartlidge NE; Parker WD Jr; Turnbull DM, 1991. Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease.  J Neurol Sci 104(2):203-8

Jackson S; Bartlett K; Land J; Moxon ER; Pollitt RJ; Leonard JV; Turnbull DM, 1991. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.  Pediatr Res 29(4 Pt 1):406-11

Bindoff LA; Desnuelle C; Birch-Machin MA; Pellissier JF; Serratrice G; Dravet C; Bureau M; Howell N; Turnbull DM, 1991. Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.  J Neurol Sci 102(1):17-24

Bindoff LA; Birch-Machin MA; Jackson S; Singh Kler R; Bartlett K; Turnbull DM, 1991. Deficiency of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation.  Rev Neurol (Paris) 147(6-7):526-31

Watmough NJ; Bindoff LA; Birch-Machin MA; Jackson S; Bartlett K; Ragan CI; Poulton J; Gardiner RM; Sherratt HS; Turnbull DM, 1990. Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.  J Clin Invest 85(1):177-84

Turnbull DM; Shepherd IM; Bartlett K; Sherratt HS, 1990. Short-chain acyl-CoA dehydrogenase deficiency.  Prog Clin Biol Res 321:313-24

Farnsworth L; Shepherd IM; Johnson MA; Bindoff LA; Turnbull DM, 1990. Absence of immunoreactive enzyme protein in short-chain acylcoenzyme A dehydrogenase deficiency.  Ann Neurol 28(5):717-20

Turnbull DM; Bindoff LA, 1989. Biochemical investigation of muscle disease.  Ann Clin Biochem 26 ( Pt 6):472-6

Bindoff LA; Birch-Machin MA; Farnsworth L; Gardner-Medwin D; Lindsay JG; Turnbull DM, 1989. Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex.  J Neurol Sci 93(2-3):311-8

Watmough NJ; Turnbull DM; Sherratt HS; Bartlett K, 1989. Measurement of the acyl-CoA intermediates of beta-oxidation by h.p.l.c. with on-line radiochemical and photodiode-array detection. Application to the study of [U-14C]hexadecanoate oxidation by intact rat liver mitochondria.  Biochem J 262(1):261-9

Birch-Machin MA; Shepherd IM; Watmough NJ; Sherratt HS; Bartlett K; Darley-Usmar VM; Milligan DW; Welch RJ; Aynsley-Green A; Turnbull DM, 1989. Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain.  Pediatr Res 25(5):553-9

Watmough NJ; Birch-Machin MA; Bindoff LA; Aynsley-Green A; Simpson K; Ragan CI; Sherratt HS; Turnbull DM, 1989. Tissue specific defect of complex I of the mitochondrial respiratory chain.  Biochem Biophys Res Commun 160(2):623-7

Singh R; Shepherd IM; Derrick JP; Ramsay RR; Sherratt HS; Turnbull DM, 1988. A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle.  FEBS Lett 241(1-2):126-30

Turnbull DM; Bartlett K; Eyre JA; Gardner-Medwin D; Johnson MA; Fisher J; Watmough NJ, 1988. Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy.  Dev Med Child Neurol 30(5):667-72

Johnson MA; Kadenbach B; Droste M; Old SL; Turnbull DM, 1988. Immunocytochemical studies of cytochrome oxidase subunits in skeletal muscle of patients with partial cytochrome oxidase deficiencies.  J Neurol Sci 87(1):75-90

Turnbull DM; Shepherd IM; Ashworth B; Bartlett K; Johnson MA; Cullen MJ; Jackson S; Sherratt HS, 1988. Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities.  Brain 111 ( Pt 4):815-28

Watmough NJ; Bhuiyan AK; Bartlett K; Sherratt HS; Turnbull DM, 1988. Skeletal muscle mitochondrial beta-oxidation. A study of the products of oxidation of [U-14C]hexadecanoate by h.p.l.c. using continuous on-line radiochemical detection.  Biochem J 253(2):541-7

Turnbull DM; Shepherd IM; Aynsley-Green A, 1988. Inherited defects of mitochondrial fatty acid oxidation.  Biochem Soc Trans 16(3):424-7

Birch-Machin MA; Shepherd IM; Solomon M; Yeaman SJ; Gardner-Medwin D; Sherratt HS; Lindsay JG; Aynsley-Green A; Turnbull DM, 1988. Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex.  J Inherit Metab Dis 11(2):207-17

Turnbull DM; Bartlett K; Watmough NJ; Shepherd IM; Sherratt HS, 1987. Defects of fatty acid oxidation in skeletal muscle.  J Inherit Metab Dis 10 Suppl 1:105-12

Publication list retrieved from NCBI using ImpactPubs

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