Publications by Emeritus Professor Doug Turnbull - ePrints

Browsing publications by Emeritus Professor Doug Turnbull.

Newcastle Authors	Title	Year
Dr Amy Vincent Dr Chun Chen Dr Tiago Gomes Bernardino Gomes Dr Valeria Di Leo Kamil Pabis et al.	A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders	2024
Dan Hipps Dr Angela Pyle Dr Anna Porter Philip Dobson Dr Helen Tuppen et al.	Variant load of mitochondrial DNA in single human mesenchymal stem cells	2024
Dr Elizaveta Olkhova Carla Bradshaw Emeritus Professor Doug Turnbull Dr Fiona LeBeau Dr Yi Ng et al.	A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction	2023
Dr Yuko Takeda Dr Louise Hyslop Dr Meenakshi Choudhary Dr Fiona Robertson Dr Angela Pyle et al.	Feasibility and impact of haplogroup matching for mitochondrial replacement treatment.	2023
Dr John Bourke Dr Yi Ng Dr Matthew Bates Emeritus Professor Doug Turnbull Professor Grainne Gorman et al.	Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder	2022
Dr Ashwin Sachdeva Dr Christopher Carey Dr Amy Vincent Professor Laura Greaves Professor Rakesh Heer et al.	Automated quantitative high‑throughput multiplex immunofuorescence pipeline to evaluate OXPHOS defects in formalin‑fxed human prostate tissue	2022
Dan Hipps Dr Philip Dobson Dr Charlotte Warren Dr David McDonald Andrew Fuller et al.	Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry	2022
Dr Sarah Pickett Emeritus Professor Doug Turnbull	Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline	2022
Dr Yi Ng Dr Nichola Lax Dr Alasdair Blain Dr Daniel Erskine Professor Mark Baker et al.	Forecasting stroke-like episodes and outcomes in mitochondrial disease	2022
Xuefei Yu Dr Catherine Arden Dr Rolando Berlinguer Palmini Dr Chun Chen Carla Bradshaw et al.	Mitochondrial complex I subunit deficiency promotes pancreatic α-cell proliferation	2022
Dr Albert Lim Dr Yi Ng Dr Alasdair Blain Dr Cecilia Jimenez Moreno Dr Charlotte Alston et al.	Natural History of Leigh Syndrome: A Study of Disease Burden and Progression	2022
Dr David Houghton Dr Yi Ng Dr Renae Stefanetti Paula Hynd Professor Christopher Stewart et al.	Phase II feasibility study of the efficacy, tolerability and impact on the gut microbiome of a low residue (fibre) diet in adult patients with mitochondrial disease	2022
Dr Yi Ng Emeritus Professor Doug Turnbull	Uncoupling of energy production	2022
Professor Grainne Gorman Professor Rita Horvath Dr Richard Quinton Dr Andrew Schaefer Dr Patrick Yu Wai Man et al.	100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report	2021
Dr Craig Stamp Dr Julia Whitehall Anna Smith Dr David Houghton Carla Bradshaw et al.	Age-associated mitochondrial complex I deficiency is linked to increased stem cell proliferation rates in the mouse colon	2021
Dr Chun Chen Dr David McDonald Dr Alasdair Blain Dr Ashwin Sachdeva Laura Bone et al.	Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s disease	2021
Jane Newman Dr James Miller Professor Djordje Jakovljevic Professor Grainne Gorman Emeritus Professor Doug Turnbull et al.	Interventions for promoting physical activity in people with neuromuscular disease	2021
Dr Yi Ng Professor Laurence Bindoff Professor Grainne Gorman Professor Bobby McFarland Professor Robert Taylor et al.	Mitochondrial disease in adults: recent advances and future promise	2021
Dr Tiago Bernardino Gomes Dr Yi Ng Dr Sarah Pickett Emeritus Professor Doug Turnbull Dr Amy Vincent et al.	Mitochondrial DNA disorders: From pathogenic variants to preventing transmission	2021
Dr Albert Lim Dr Daniel Jones Dr Matt Bates Dr Andrew Schaefer Dr John O'Sullivan et al.	Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects	2021
Dr Pavandeep Rai Dr Satomi Miwa Emeritus Professor Doug Turnbull	The Role of Mitochondria-Linked Fatty-Acid Uptake-Driven Adipogenesis in Graves Orbitopathy	2021
Anna Smith Dr Julia Whitehall Carla Bradshaw Dr Fiona Robertson Dr Alasdair Blain et al.	Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis	2020
Dr Amy Vincent Emeritus Professor Doug Turnbull Professor Robert Taylor	Assessment of mitochondrial respiratory chain enzymes in cells and tissues	2020
Chris Hatton Dr Amy Reeve Dr Nichola Lax Dr Alasdair Blain Dr Yi Ng et al.	Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies	2020
Dr Charlotte Warren Dr David McDonald Professor David Deehan Professor Robert Taylor Professor Andrew Filby et al.	Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry	2020
Dr Amy Vincent Dr Rolando Berlinguer Palmini Emeritus Professor Doug Turnbull	Distinctive Features of Orbital Adipose Tissue (OAT) in Graves’ Orbitopathy	2020
Carmen Fiuza Luces Emeritus Professor Doug Turnbull	Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse	2020
Dr Chun Chen Dr Amy Vincent Dr Alasdair Blain Anna Smith Emeritus Professor Doug Turnbull et al.	Investigation of mitochondrial biogenesis defects in single substantia nigra neurons using post-mortem human tissues	2020
Dr Daniel Erskine Dr Amy Reeve Dr Tuomo Polvikoski Dr Andrew Schaefer Professor Robert Taylor et al.	Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls	2020
Catherine Feeney Professor Grainne Gorman Dr Renae Stefanetti Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	Lower urinary tract dysfunction in adult patients with mitochondrial disease	2020
Dr Renae Stefanetti Dr Alasdair Blain Dr Cecilia Jimenez Moreno Linda Errington Dr Yi Ng et al.	Measuring the effects of exercise in neuromuscular disorders: A systematic review and meta-analyses [version 1; peer review: 2 approved]	2020
Dr Oliver Russell Professor Grainne Gorman Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Mitochondrial Diseases: Hope for the Future	2020
Dr Julie Murphy Emeritus Professor Doug Turnbull	Mitochondrial donation - hope for families with mitochondrial DNA disease	2020
Dr Philip Dobson Dr Ella Dennis Dan Hipps Dr Amy Reeve Dr Alex Laude et al.	Mitochondrial dysfunction impairs osteogenesis, increases osteoclast activity, and accelerates age related bone loss	2020
Dr Amy Vincent Emeritus Professor Doug Turnbull Professor Gavin Hudson	Mitochondrial Isolation: When size matters	2020
Julie Faitg Tracey Davey Emeritus Professor Doug Turnbull Dr Kathryn White Dr Amy Vincent et al.	Mitochondrial morphology and function: two for the price of one!	2020
Dr Heather Moore Dr Alasdair Blain Emeritus Professor Doug Turnbull Professor Grainne Gorman	Systematic review of cognitive deficits in adult mitochondrial disease	2020
Professor Alison Yarnall Dr Antoneta Granic Sammy Waite Dr Kieren Hollingsworth Dr Charlotte Warren et al.	The feasibility of muscle mitochondrial respiratory chain phenotyping across the cognitive spectrum in Parkinson’s disease	2020
Dr Conor Lawless Professor Laura Greaves Dr Amy Reeve Emeritus Professor Doug Turnbull Dr Amy Vincent et al.	The rise and rise of mitochondrial DNA mutations	2020
Emeritus Professor Doug Turnbull	Therapeutic Manipulation of mtDNA Heteroplasmy: A Shifting Perspective	2020
Dr Charlotte Alston Professor Grainne Gorman Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging	2020
Dr Yi Ng Emeritus Professor Doug Turnbull	When to think about mitochondrial disease	2020
Catherine Feeney Dr Albert Lim Dr Alasdair Blain Alexandra Bright Professor Robert Taylor et al.	A case‐comparison study of pregnant women with mitochondrial disease – what to expect?	2019
Dr Mauro Santibanez Koref Dr Helen Griffin Emeritus Professor Doug Turnbull Professor Patrick Chinnery Professor Mary Herbert et al.	Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution	2019
Dr Heather Moore Dr Thomas Kelly Alexandra Bright Dr Andrew Schaefer Dr Alasdair Blain et al.	Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: Importance of correcting for baseline intellectual ability	2019
Dr Fiona Malcomson Dr Stella Breininger Khalil ElGendy Aj Joel Thilanka Ranathunga et al.	Design and baseline characteristics of the Biomarkers Of Risk In Colorectal Cancer (BORICC) Follow-Up study: A 12+ years follow-up	2019
Dr Hannah Hayhurst Maria Anagnostou Helen Bogle Dr John Grady Professor Robert Taylor et al.	Dissecting the neuronal vulnerability underpinning Alpers' syndrome: A clinical and neuropathological study	2019
Dr Stella Breininger Dr Fiona Malcomson Dr Sonny Afshar Emeritus Professor Doug Turnbull Professor Laura Greaves et al.	Effects of obesity and weight loss on mitochondrial structure and function and implications for colorectal cancer risk	2019
Dr Rachel Boal Dr Yi Ng Dr Sarah Pickett Dr Andrew Schaefer Catherine Feeney et al.	Height as a clinical biomarker of disease burden in adult mitochondrial disease	2019
Dr Sarah Pickett Dr Alasdair Blain Dr Yi Ng Dr Ian Wilson Professor Robert Taylor et al.	Mitochondrial donation - Which women could benefit?	2019
Dr Chun Chen Emeritus Professor Doug Turnbull Dr Amy Reeve	Mitochondrial Dysfunction in Parkinson's Disease - Cause or Consequence?	2019
Dr Luis Braz Dr Yi Ng Professor Grainne Gorman Professor Bobby McFarland Professor Robert Taylor et al.	Neuromuscular junction abnormalities in mitochondrial disease; an observational cohort study	2019
Dr Yi Ng Dr Mika Martikainen Professor Grainne Gorman Dr Alasdair Blain Dr Andrew Schaefer et al.	Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study	2019
Dr Amy Vincent Dr Kathryn White Tracey Davey Jonathan Phillips Dr Conor Lawless et al.	Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network	2019
Dr Nichola Lax Shuna Whyte Dr Alistair Jenkins Emeritus Professor Doug Turnbull Mark Cunningham et al.	The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction	2019
Dr Diana Lehmann Dr Helen Tuppen Georgia Campbell Charlotte Alston Dr Conor Lawless et al.	Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level	2019
Dr Yi Ng Dr Nichola Lax Dr Charlotte Alston Philippa Hepplewhite Professor Patrick Chinnery et al.	MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load	2018
Dr Dave Houghton Professor Christopher Stewart Dr Craig Stamp Professor Anil Wipat Professor Mike Trenell et al.	Age-related mitochondrial dysfunction influences the mouse intestinal microbiome composition	2018
Syeda Ahmed Dr Oliver Russell Emeritus Professor Doug Turnbull Dr Amy Vincent	Diagnosis and Treatment of Mitochondrial Myopathies	2018
Maria Nathania Dr Kieren Hollingsworth Dr Matthew Bates Professor Christopher Eggett Professor Mike Trenell et al.	Impact of age on the association between cardiac high-energy phosphate metabolism and cardiac power in women	2018
Tianhong Su Dr John Grady Sorena Afshar Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations	2018
Professor Grainne Gorman Professor Bobby McFarland Dr Jane Stewart Catherine Feeney Emeritus Professor Doug Turnbull et al.	Mitochondrial donation: from test tube to clinic	2018
Dr Richard Dodds Dr Karen Davies Dr Antoneta Granic Dr Kieren Hollingsworth Charlotte Warren et al.	Mitochondrial respiratory chain function and content are preserved in the skeletal muscle of active very old men and women	2018
Dr John Grady Dr Sarah Pickett Dr Yi Ng Catherine Feeney Dr Andrew Schaefer et al.	mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease	2018
Dr Mariana Rocha Hannah Rosa Dr John Grady Dr Langping He Jane Newman et al.	Pathological mechanisms underlying single large-scale mitochondrial DNA deletions	2018
Dr Sarah Pickett Dr John Grady Dr Yi Ng Professor Grainne Gorman Dr Andrew Schaefer et al.	Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors	2018
Dr Craig Stamp Dr Anze Zupanic Ashwin Sachdeva Dr Elizabeth Stoll Dr Daryl Shanley et al.	Predominant Asymmetrical Stem Cell Fate Outcome Limits the Rate of Niche Succession in Human Colonic Crypts	2018
Dr Oliver Russell Pavandeep Rai Dr Amy Reeve Dr Karolina Rygiel Professor Majlinda Lako et al.	Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo	2018
Professor Mary Herbert Emeritus Professor Doug Turnbull	Progress in mitochondrial replacement therapies	2018
Tianhong Su Emeritus Professor Doug Turnbull Professor Laura Greaves	Roles of mitochondrial DNA mutations in stem cell ageing	2018
Dr Julie Murphy Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Grainne Gorman Professor Bobby McFarland et al.	Scientific and Ethical Issues in Mitochondrial Donation	2018
Sasiharan Sithamparanathan Dr Mariana Rocha Dr Jehill Parikh Karolina Rygiel Gavin Falkous et al.	Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study	2018
Dr Amy Vincent Hannah Rosa Kamil Pabis Dr Conor Lawless Dr Chun Chen et al.	Subcellular origin of mitochondrial DNA deletions in human skeletal muscle	2018
Dr Yi Ng Dr Henriette van Ruiten Dr Vankateswara Ramesh Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease	2018
Dr Thomas Nicholls Dr Ewen Sommerville Professor Grainne Gorman Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al.	Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA	2018
Dr Nichola Lax Professor Grainne Gorman Emeritus Professor Doug Turnbull	Central nervous system involvement in mitochondrial disease	2017
Dr Ewen Sommerville Dr Yi Ng Dr Charlotte Alston Dr Langping He Charlotte Knowles et al.	Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy	2017
Dr Mika Martikainen Dr John Grady Dr Yi Ng Dr Charlotte Alston Professor Grainne Gorman et al.	Decreased male reproductive success in association with mitochondrial dysfunction	2017
Hua Lin Waseema Patel Val Affleck Emeritus Professor Doug Turnbull Abhishek Joshi et al.	Fatty acid oxidation is required for the respiration and proliferation of malignant glioma cells	2017
Dr Dave Houghton Professor Christopher Stewart Dr Craig Stamp Professor Anil Wipat Professor Mike Trenell et al.	Impact of Age-Related Mitochondrial Dysfunction and Exercise on Intestinal Microbiota Composition	2017
Professor Bobby McFarland Professor Laurence Bindoff Professor Grainne Gorman Professor Rita Horvath Emeritus Professor Doug Turnbull et al.	International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy	2017
Professor Mary Herbert Emeritus Professor Doug Turnbull	Mitochondrial donation - Clearing the final regulatory hurdle in the United Kingdom	2017
Dr Amy Vincent Emeritus Professor Doug Turnbull	Mitochondrial Nanotunnels	2017
Dr Karolina Rygiel Dr Richard Dodds Dr Antoneta Granic Josh Cliff Dr Mariana Rocha et al.	Mitochondrial respiratory chain deficiency in older men and its relationship with muscle mass and performance	2017
Dr Mohammad Moad Laura Wilson Rob Pickard Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Multipotent Basal Stem Cells, Maintained in Localized Proximal Niches, Support Directed Long-Ranging Epithelial Flows in Human Prostates	2017
Dr Yi Ng Emeritus Professor Doug Turnbull Professor Robert Taylor	Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia	2017
Dr Ewen Sommerville Rachel Phelps Dr Steven Hardy Dr Angela Pyle Dr Andrew Schaefer et al.	Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia	2017
Dr Matthew Bates Professor Christopher Eggett Dr Mario Siervo Dr Sophie Cassidy Jane Newman et al.	Pathophysiology of exercise intolerance in chronic diseases: the role of diminished cardiac performance in mitochondrial and heart failure patients	2017
Dr Charlotte Alston Professor Robert Taylor Emeritus Professor Doug Turnbull	Recent Advances in Mitochondrial Disease	2017
Dr Charlotte Alston Dr Mariana Rocha Dr Nichola Lax Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	The genetics and pathology of mitochondrial disease	2017
Syeda Ahmed Charlotte Alston Sila Hopton Dr Langping He Gavin Falkous et al.	Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency	2017
Dr Ahmad Khundakar Dr Peter Hanson Dr Daniel Erskine Dr Nichola Lax Evangelia Karyka et al.	Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations	2016
Dr Oliver Russell Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia	2016
Professor Robert Taylor Emeritus Professor Doug Turnbull	Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency	2016
Mika Martikainen Dr Yi Ng Professor Grainne Gorman Dr Charlotte Alston Dr Andrew Schaefer et al.	Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease	2016
Dr Amy Vincent Hannah Rosa Dr Karolina Rygiel Dr John Grady Dr Mariana Rocha et al.	Clonal expansion of mtDNA deletions in skeletal muscle: new insights into mechanisms	2016
Dr Karolina Rygiel Dr Helen Tuppen Dr John Grady Dr Amy Vincent Dr Amy Reeve et al.	Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis	2016
Jonathan Phillips Dr Alex Laude Professor Robert Lightowlers Dr Christopher Morris Emeritus Professor Doug Turnbull et al.	Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease	2016
Ashwin Sachdeva Dr Amira El-Sherif Emeritus Professor Doug Turnbull Professor Laura Greaves Professor Rakesh Heer et al.	Development of prostate intra-epithelial neoplasia in an aging series of PolgA mutator mice suggests a role for mitochondrial DNA mutations in prostate carcinogenesis	2016
Dr Amy Vincent Hannah Rosa Dr Charlotte Alston Dr John Grady Dr Karolina Rygiel et al.	Dysferlin mutations and mitochondrial dysfunction	2016
Dr Martin Picard Dr Amy Vincent Emeritus Professor Doug Turnbull	Expanding Our Understanding of mtDNA Deletions	2016
Dr Nichola Lax Dr John Grady Dr Alex Laude Felix Chan Philippa Hepplewhite et al.	Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease	2016
Dr Amy Vincent Emeritus Professor Doug Turnbull Dr Martin Picard	Formation of mitochondrial-derived vesicles is an active and physiologically relevant mitochondrial quality control process in the cardiac system	2016
Emeritus Professor Doug Turnbull	Genetic and biochemical intricacy shapes mitochondrial cytopathies	2016
Alexia Chrysostomou Dr John Grady Dr Alex Laude Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease	2016
Alexia Chrysostomou Emeritus Professor Doug Turnbull	Mitochondria, the synapse, and neurodegeneration	2016
Dr Yi Ng Emeritus Professor Doug Turnbull	Mitochondrial disease: genetics and management	2016
Professor Grainne Gorman Professor Patrick Chinnery Professor Bobby McFarland Emeritus Professor Doug Turnbull	Mitochondrial diseases	2016
Dr Anne Grunewald Dr Karolina Rygiel Philippa Hepplewhite Dr Christopher Morris Dr Martin Picard et al.	Mitochondrial DNA Depletion in Respiratory Chain-Deficient Parkinson Disease Neurons	2016
Dr Amy Vincent Dr John Grady Dr Mariana Rocha Dr Charlotte Alston Dr Karolina Rygiel et al.	Mitochondrial dysfunction in myofibrillar myopathy	2016
Dr Amy Reeve Eve Simcox Emeritus Professor Doug Turnbull	Mitochondrial dysfunction in neurodegenerative disorders: Second edition	2016
Dr Elizabeth Stoll Nevena Karapavlovic Hannah Rosa Michael Woodmass Dr Karolina Rygiel et al.	Naked mole-rats maintain healthy skeletal muscle and Complex IV mitochondrial enzyme function into old age	2016
Felix Chan Dr Nichola Lax Emeritus Professor Doug Turnbull Professor Mark Cunningham	Neuronal oscillations: a physiological correlate for targeting mitochondrial dysfunction in neurodegenerative diseases?	2016
Dr Steven Hardy Dr Andrew Purvis Dr Mariana Rocha Syeda Ahmed Gavin Falkous et al.	Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy	2016
Dr Amy Reeve Eve Simcox Emeritus Professor Doug Turnbull	Preface	2016
Professor Roger Whittaker Professor Grainne Gorman Dr Yi Ng Emeritus Professor Doug Turnbull	Prevalence and Outcome of Mitochondrial Epilepsy Reply	2016
Dr Yi Ng Catherine Feeney Dr Andrew Schaefer Paula Hynd Dr Charlotte Alston et al.	Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination	2016
Dr Lyndsey Butterworth Professor Mary Herbert Professor Alison Murdoch Dr Julie Murphy James Lawford-Davies et al.	Research into Policy: A Brief History of Mitochondrial Donation	2016
Dr Mika Martikainen Professor David Burn Emeritus Professor Doug Turnbull	Spectrum of Movement Disorders in Mitochondrial Disorders Reply	2016
Dr Yi Ng Dr John Grady Dr Nichola Lax Dr John Bourke Dr Charlotte Alston et al.	Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults	2016
Dr Karolina Rygiel Dr Martin Picard Emeritus Professor Doug Turnbull	The ageing neuromuscular system and sarcopenia - A mitochondrial perspective	2016
Dr Amy Vincent Dr Yi Ng Dr Kathryn White Tracey Davey Gavin Falkous et al.	The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy	2016
Dr Louise Hyslop Dr Lyndsey Butterworth Mahdi Lamb Dr Nilendran Prathalingam Qi Zhang et al.	Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease	2016
Dr Philip Dobson Dr Mariana Rocha Dr John Grady Alexia Chrysostomou Sharon Watson et al.	Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA^-/^-mice	2016
Dr Yi Ng Professor Roger Whittaker Professor Bobby McFarland Emeritus Professor Doug Turnbull Professor Grainne Gorman et al.	A clinical audit of acute management of stroke-like episodes from a national mitochondrial disease centre	2015
Dr Mariana Rocha Dr John Grady Dr Anne Grunewald Dr Amy Vincent Dr Philip Dobson et al.	A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis	2015
Dr Mika Martikainen Professor Grainne Gorman Dr Paul Goldsmith Professor David Burn Emeritus Professor Doug Turnbull et al.	Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C “NARP” mutation	2015
Dr Amy Reeve Dr Eve Cosgrave Emeritus Professor Doug Turnbull	Aggregated α-synuclein and complex I deficiency: exploration of their relationship in differentiated neurons	2015
Jessica Richardson Dr Laura Irving Dr Louise Hyslop Dr Meenakshi Choudhary Professor Alison Murdoch et al.	Assisted Reproductive Technologies to Prevent Transmission of Mitochondrial DNA Disease	2015
Professor Grainne Gorman Dr Gerald Pfeffer Dr Helen Griffin Dr Marzena Kurzawa-Akanbi Jessica Gabriel et al.	Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28	2015
Professor Roger Whittaker Professor Grainne Gorman Dr Andrew Schaefer Professor Rita Horvath Dr Yi Ng et al.	Epilepsy in Adults With Mitochondrial Disease: A Cohort Study	2015
Professor Grainne Gorman Dr John Grady Dr Yi Ng Dr Andrew Schaefer Dr Richard McNally et al.	Mitochondrial Donation: How Many Women Could Benefit?	2015
Dr Amy Vincent Dr Mariana Rocha Dr Karolina Rygiel Dr John Grady Georgia Campbell et al.	Mitochondrial dysfunction: A key player in myofibrillar myopathy?	2015
Professor Mary Herbert Emeritus Professor Doug Turnbull	Mitochondrial replacement to prevent the transmission of mitochondrial DNA disease	2015
Professor Robert Lightowlers Professor Robert Taylor Emeritus Professor Doug Turnbull	Mutations causing mitochondrial disease: What is new and what challenges remain?	2015
Dr Elizabeth Stoll Professor Andrew Trevelyan Dr Satomi Miwa Emeritus Professor Doug Turnbull	Neural stem cells in the adult subventricular zone oxidize fatty acids to produce energy and support neurogenic activity.	2015
Professor Grainne Gorman Dr Hue Hornig - Do Dr Helen Tuppen Professor Laura Greaves Dr Langping He et al.	Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression	2015
Professor Grainne Gorman Dr Joanna Elson Jane Newman Dr Brendan Payne Professor Bobby McFarland et al.	Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease	2015
Pavandeep Rai Dr Oliver Russell Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Potential compounds for the treatment of mitochondrial disease	2015
Professor Grainne Gorman Dr Andrew Schaefer Dr Yi Ng Dr Charlotte Alston Catherine Feeney et al.	Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease	2015
Dr Yi Ng Professor Grainne Gorman Emeritus Professor Doug Turnbull Mika Martikainen	The diagnosis of posterior reversible encephalopathy syndrome	2015
Dr Charlotte Alston Dr Robert Pitceathly Professor Bobby McFarland Dr Andrew Schaefer Emeritus Professor Doug Turnbull et al.	The urinary proteome and metabonome differ from normal in adults with mitochondrial disease	2015
Dr Louise Hyslop Dr Laura Irving Jessica Richardson Dr Meenakshi Choudhary Professor Alison Murdoch et al.	Towards therapeutic application of IVF-based techniques to prevent transmission of mtDNA disease	2015
Dr Karolina Rygiel Dr John Grady Professor Robert Taylor Dr Helen Tuppen Emeritus Professor Doug Turnbull et al.	Triple real-time PCR - an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells	2015
Dr Yi Ng Dr Charlotte Alston Professor Rita Horvath Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	A genetic weakness - Phoenician legacy or Celtic heritage?	2014
Dr Victoria Nesbitt Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Bobby McFarland et al.	A national perspective on prenatal testing for rnitochondrial disease	2014
Dr John Grady Dr Julie Murphy Professor Robert Taylor Emeritus Professor Doug Turnbull Dr Helen Tuppen et al.	Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle	2014
Dr Amy Reeve Dr Eve Cosgrave Emeritus Professor Doug Turnbull	Ageing and Parkinson's disease: Why is advancing age the biggest risk factor?	2014
Professor Laura Greaves Marco Nooteboom Dr Joanna Elson Dr Helen Tuppen Geoffrey Taylor et al.	Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing	2014
Dr Brook Galna Jane Newman Professor Djordje Jakovljevic Dr Matthew Bates Dr Andrew Schaefer et al.	Discrete gait characteristics are associated with m.3243A > G and m.8344A > G variants of mitochondrial disease and its pathological consequences	2014
Dr John Grady Georgia Campbell Gavin Falkous Dr Victoria Nesbitt Dr Andrew Schaefer et al.	Disease progression in patients with single, large-scale mitochondrial DNA deletions	2014
Georgia Campbell Kim Krishnan Professor Robert Taylor Emeritus Professor Doug Turnbull	Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle	2014
Dr Charlotte Alston Gavin Falkous Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Grainne Gorman et al.	Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation	2014
Dr Stuart Williamson Laura Wilson Graeme Williamson Professor Laura Greaves Dr Helen Tuppen et al.	Finding a niche. The location of human prostate stem cells	2014
Holly Baines Emeritus Professor Doug Turnbull Professor Laura Greaves	Human stem cell aging: do mitochondrial DNA mutations have a causal role?	2014
Dr Karolina Rygiel Dr James Miller Dr John Grady Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Mitochondrial and inflammatory changes in sporadic inclusion body myositis	2014
Dr Oliver Russell Emeritus Professor Doug Turnbull	Mitochondrial DNA disease - molecular insights and potential routes to a cure	2014
Dr Gerald Pfeffer Professor Grainne Gorman Dr Helen Griffin Dr Marzena Kurzawa-Akanbi Dr Ian Wilson et al.	Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance	2014
Dr Charlotte Alston Emeritus Professor Doug Turnbull Dr Jane Stewart Professor Bobby McFarland Professor Robert Taylor et al.	PGD to prevent mitochondrial disease: embryological aspects	2014
Dr Lyndsey Butterworth Dr Laura Irving Dr Charlotte Alston Dr Emma Watson Professor Bobby McFarland et al.	Preimplantation genetic diagnosis for mitochondrial DNA disease	2014
Dr Anne Grunewald Dr Nichola Lax Dr Amy Reeve Philippa Hepplewhite Karolina Rygiel et al.	Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue	2014
Dr Karolina Rygiel Dr John Grady Emeritus Professor Doug Turnbull	Respiratory chain deficiency in aged spinal motor neurons	2014
Holly Baines Dr Jim Stewart Craig Stamp Dr Anze Zupanic Emeritus Professor Thomas Kirkwood et al.	Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans	2014
Dr Yi Ng Dr Nichola Lax Dr Andrew Schaefer Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Sudden Unexpected Death in Adults with M.3243A>G Mutation	2014
Professor Patrick Chinnery Dr Lyndsey Butterworth Dr Jim Stewart Professor Mary Herbert Emeritus Professor Doug Turnbull et al.	The Challenges of Mitochondrial Replacement	2014
Gareth Greggains Dr Lisa Ferguson Dr Helen Tuppen Qi Zhang Dr Nilendran Prathalingam et al.	Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations	2014
Professor Robert Taylor Dr Angela Pyle Dr Helen Griffin Dr Jennifer Duff Dr Langping He et al.	Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies	2014
Dr Anna Sarkozy Dr Debbie Hicks Dr Steven Laval Dr Rita Barresi Dr Lizzie Harris et al.	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	2013
Professor Grainne Gorman Dr Robert Pitceathly Emeritus Professor Doug Turnbull Professor Robert Taylor	RRM2B-Related Mitochondrial Disease	2013
Monica Piatek Dr Kathryn White Dr Sasha Gartside Emeritus Professor Doug Turnbull	Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle	2013
Katherine Jones Dr Roger Whittaker Dr James Miller Professor Djordje Jakovljevic Emeritus Professor Doug Turnbull et al.	Can high intensity interval training improve functional capacity and clinical symptoms in inflammatory and mitochondrial myopathies?	2013
Philip Griffiths Dr Fiona Smith Dr Michael Firbank Professor Grainne Gorman Professor Robert Taylor et al.	Chronic progressive external ophthalmoplegia - Disease mechanisms and clinical outcome measures	2013
Dr Matthew Bates Dr Kieren Hollingsworth Jane Newman Professor Djordje Jakovljevic Professor Andrew Blamire et al.	Concentric hypertrophic remodeling and subendocardial dysfunction in mitochondrial DNA point mutation carriers	2013
Dr Martin Picard Emeritus Professor Doug Turnbull	Contractile In/Activity Influence Mitochondrial Morphology and Membrane Interactions in Mouse Skeletal Muscle	2013
Dr Matthew Bates Jane Newman Professor Djordje Jakovljevic Dr Kieren Hollingsworth Professor Andrew Blamire et al.	Defining cardiac adaptations and safety of endurance training in patients with m.3243A>g-related mitochondrial disease	2013
Dr Nichola Lax Dr Charlotte Alston Dr Tuomo Polvikoski Dr Evelyn Jaros Dr John Yarham et al.	Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNA(Glu) (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study	2013
Dr Andrew Schaefer Professor Mark Walker Emeritus Professor Doug Turnbull Professor Robert Taylor	Endocrine disorders in mitochondrial disease	2013
Jane Newman Dr Brook Galna Professor Djordje Jakovljevic Dr Matthew Bates Dr Andrew Schaefer et al.	Evaluation of Functional Outcome Measures as a Surrogate Marker of Disease Severity in Patients with Mitochondrial Disease	2013
Dr Cynthia Yu Wai Man Dr Fiona Smith Dr Michael Firbank Professor Grainne Gorman Professor Robert Taylor et al.	Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia	2013
Professor Roger Whittaker Professor Robert Taylor Emeritus Professor Doug Turnbull	Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease	2013
Dr Joanna Elson Mark Cadogan Professor Roger Whittaker Professor Mike Trenell Professor Rita Horvath et al.	Initial development and validation of a mitochondrial disease quality of life scale	2013
Dr Charlotte Alston Dr Andrew Schaefer Kim Krishnan Dr Langping He Kate Craig et al.	Late-Onset Respiratory Failure Due to Tk2 Mutations Causing Multiple MtDNA Deletions	2013
Martin Picard Emeritus Professor Doug Turnbull	Linking the Metabolic State and Mitochondrial DNA in Chronic Disease, Health, and Aging	2013
Dr Ilse Pienaar Dr Joanna Elson Dr Claudia Racca Dr Glyn Nelson Emeritus Professor Doug Turnbull et al.	Mitochondrial Abnormality Associates with Type-Specific Neuronal Loss and Cell Morphology Changes in the Pedunculopontine Nucleus in Parkinson Disease	2013
Graham Campbell Dr Amy Reeve Dr Iryna Ziabreva Dr Tuomo Polvikoski Professor Robert Taylor et al.	Mitochondrial DNA deletions and depletion within paraspinal muscles	2013
Sally Spendiff Dr Mojgan Reza Dr Julie Murphy Professor Grainne Gorman Professor Robert Taylor et al.	Mitochondrial DNA deletions in muscle satellite cells: implications for therapies	2013
Martin Picard Dr Kathryn White Emeritus Professor Doug Turnbull	Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study	2013
Dr Eve Cosgrave Dr Amy Reeve Emeritus Professor Doug Turnbull	Monitoring mitochondrial dynamics and complex I dysfunction in neurons: implications for Parkinson's disease	2013
Helen Bogle Dr Nichola Lax Dr Evelyn Jaros Professor Bobby McFarland Professor Robert Taylor et al.	Neuropathological changes in Alpers' syndrome	2013
Dr Gerald Pfeffer Professor Rita Horvath Professor Laurence Bindoff Dr Patrick Yu Wai Man Professor Michael Hanna et al.	New treatments for mitochondrial disease - no time to drop our standards	2013
Graham Campbell Dr Amy Reeve Dr Iryna Ziabreva Emeritus Professor Doug Turnbull Dr Don Mahad et al.	No excess of mitochondrial DNA deletions within muscle in progressive multiple sclerosis	2013
Dr John Yarham Dr Charlotte Alston Kate Craig Dr Kirstie Anderson Emeritus Professor Doug Turnbull et al.	Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease	2013
Katherine Jones Professor Roger Whittaker Dr James Miller Professor Djordje Jakovljevic Emeritus Professor Doug Turnbull et al.	The Effects of High Intensity Interval Training on Clinical Symptoms and Functional Capacity in Adults with Neuromuscular Disease	2013
Dr Amy Reeve Dr Martin Meagher Dr Nichola Lax Dr Eve Cosgrave Philippa Hepplewhite et al.	The Impact of Pathogenic Mitochondrial DNA Mutations on Substantia Nigra Neurons	2013
Dr John Yarham Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	The m.3291T > C mt-tRNA^Leu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease	2013
Dr Victoria Nesbitt Dr Robert Pitceathly Dr Simon Cockell Professor Michael Hanna Professor Patrick Chinnery et al.	The Medical Research Council Neuromuscular Centre for Translational Research Mitochondrial Disease Patient Cohort Study UK: From Conceptualisation to Utilisation	2013
Dr Victoria Nesbitt Dr Robert Pitceathly Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Bobby McFarland et al.	The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management	2013
Emeritus Professor Doug Turnbull Professor Robert Taylor	A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase gamma subunits	2012
Dr Charlotte Alston Dr Langping He Kate Craig Dr Andrew Schaefer Professor Bobby McFarland et al.	Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics	2012
Dr Matthew Bates Dr John Bourke Emeritus Professor Doug Turnbull Professor Robert Taylor	Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management	2012
Dr Kieren Hollingsworth Professor Grainne Gorman Professor Mike Trenell Professor Bobby McFarland Professor Robert Taylor et al.	Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load	2012
Dr Nichola Lax Philippa Hepplewhite Dr Amy Reeve Dr Victoria Nesbitt Professor Bobby McFarland et al.	Cerebellar Ataxia in Patients With Mitochondrial DNA Disease: A Molecular Clinicopathological Study	2012
Thiloka Ratnaike Dr Julie Murphy Professor Robert Taylor Emeritus Professor Doug Turnbull	Changes in mitochondrial function over time and with exercise in patients with mitochondrial disease	2012
Professor Robert Taylor Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Francois van der Westhuizen	Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease	2012
Julia Tonge Professor Volker Straub Professor Hanns Lochmuller Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al.	Clinical research activity in Newcastle MRC centre	2012
Graham Campbell Dr Iryna Ziabreva Dr Amy Reeve Emeritus Professor Doug Turnbull Dr Don Mahad et al.	Clonally expanded mitochondrial DNA deletions within the choroid plexus in multiple sclerosis	2012
Professor Laura Greaves Dr Joanna Elson Dr John Grady Geoffrey Taylor Professor Robert Taylor et al.	Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations	2012
Dr Matt Bates Dr Kieren Hollingsworth Jane Newman Professor Djordje Jakovljevic Professor Bernard Keavney et al.	Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers	2012
Dr Matt Bates Dr Kieren Hollingsworth Robert Taylor Emeritus Professor Doug Turnbull Professor Mike Trenell et al.	Concentric remodeling and increased myocardial torsion in mitochondrial DNA point mutation carriers	2012
Dr Julie Murphy Gavin Falkous Dr Charlotte Alston Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy	2012
Dr Karolina Rygiel Emeritus Professor Doug Turnbull	Denervation Causes Fiber Atrophy and Myosin Heavy Chain Co-Expression in Senescent Skeletal Muscle	2012
Dr Lyndsey Butterworth Dr Laura Irving Professor Mary Herbert Emeritus Professor Doug Turnbull	Development of the Pronuclear Transfer Technique to Prevent Transmission of Mitochondrial DNA Disease in Humans	2012
Dr Lyndsey Butterworth Dr Laura Irving Professor Mary Herbert Emeritus Professor Doug Turnbull	Development of the Pronuclear Transfer Technique to Prevent Transmission of Mitochondrial DNA Disease in Humans	2012
Dr Patrick Yu Wai Man Professor Grainne Gorman Professor Robert Taylor Emeritus Professor Doug Turnbull	Diagnostic investigations of patients with chronic progressive external ophthalmoplegia	2012
Kim Krishnan Dr Glyn Nelson Dr Julie Murphy Professor Rita Horvath Professor Hanns Lochmuller et al.	DNM2 mutations cause multiple mtDNA deletions in muscle: A novel disorder of mtDNA maintenance	2012
Dr Matt Bates Dr Kieren Hollingsworth Jane Newman Professor Djordje Jakovljevic Professor Andrew Blamire et al.	Evidence of early cardiac impairment in m.3243A > G mutation carriers	2012
Dr Charlotte Alston Professor Rita Horvath Professor Michael Hanna Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease	2012
Jane Newman Professor Djordje Jakovljevic Dr Matt Bates Emeritus Professor Doug Turnbull Dr Brook Galna et al.	Improving clinical trials evaluation: physiological and functional correlates in mitochondrial disease	2012
Dr John Blackwood Professor Laura Greaves Laura Wilson Rob Pickard Professor Majlinda Lako et al.	Lineage tracking in situ: Where are the prostate stem cells? What are they doing?	2012
Dr Julie Murphy Thiloka Ratnaike Ersong Shang Gavin Falkous Dr Charlotte Alston et al.	Long term endurance training and deconditioning in patients with mitochondrial myopathy	2012
Dr Nichola Lax Graham Campbell Dr Amy Reeve Jessica Zambonin Professor Robert Taylor et al.	Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome	2012
Martin Picard Dr Karolina Rygiel Emeritus Professor Doug Turnbull	Metabolic Oversupply and Mitochondrial Dysfunction as a Cause of Diaphragmatic Failure after Mechanical Ventilation	2012
Dr Nichola Lax Dr Ilse Pienaar Dr Amy Reeve Philippa Hepplewhite Dr Evelyn Jaros et al.	Microangiopathy in the cerebellum of patients with mitochondrial DNA disease	2012
Dr Nichola Lax Emeritus Professor Doug Turnbull	Mitochondrial allostatic load? The combined effect of glucose intolerance and mitochondrial DNA mutations on the incidence of neurological symptoms	2012
Graham Campbell Emeritus Professor Doug Turnbull Dr Don Mahad	Mitochondrial changes within axons in multiple sclerosis: an update	2012
Professor Laura Greaves Dr Amy Reeve Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial DNA and disease	2012
Kim Krishnan Heidi De Gruyter Dr Evelyn Jaros Emeritus Professor Doug Turnbull	Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease	2012
Graham Campbell Kim Krishnan Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial DNA deletions do not have a replicative advantage in human muscle	2012
Dr Karolina Rygiel Emeritus Professor Doug Turnbull	Mitochondrial Dysfunction and Lipid Accumulation in the Human Diaphragm during Mechanical Ventilation	2012
Professor Roger Whittaker Emeritus Professor Nick Miller Sue Clark Professor Robert Taylor Professor Bobby McFarland et al.	Prevalence and severity of speech and swallowing difficulties in mitochondrial disease	2012
Heather Moore Professor Mike Trenell Emeritus Professor Doug Turnbull Professor Grainne Gorman	Processing speed is impaired in patients with Mitochondrial Disease	2012
Dr Amy Reeve Tae-Kyung Park Dr Evelyn Jaros Graham Campbell Dr Nichola Lax et al.	Relationship Between Mitochondria and α-Synuclein: A Study of Single Substantia Nigra Neurons	2012
Dr Julie Murphy Jane Newman Thiloka Ratnaike Gavin Falkous Dr Charlotte Alston et al.	Resistance training in patients with mitochondrial myopathy	2012
Dr Nichola Lax Professor Roger Whittaker Philippa Hepplewhite Dr Amy Reeve Dr Evelyn Jaros et al.	Sensory neuronopathy in patients harbouring recessive polymerase γ mutations	2012
Dr Charlotte Alston Dr Andrew Schaefer Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Grainne Gorman et al.	The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing	2012
Dr Victoria Nesbitt Dr Robert Pitceathly Dr Simon Cockell Professor Michael Hanna Emeritus Professor Doug Turnbull et al.	The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation	2012
Dr Matthias Elstner Emeritus Professor Doug Turnbull	Transcriptome analysis in mitochondrial disorders	2012
Dr Gerald Pfeffer Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Treatment for mitochondrial disorders	2012
Vivienne Neeve Professor Hanns Lochmuller Professor Gavin Hudson Professor Grainne Gorman Emeritus Professor Doug Turnbull et al.	What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?	2012
Dr John Blackwood Dr Stuart Williamson Professor Laura Greaves Laura Wilson Dr Anastasia Hepburn et al.	In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells	2011
Dr Victoria Nesbitt Dr Robert Pitceathly Professor Bobby McFarland Emeritus Professor Doug Turnbull	A3243G - more than just MELAS!	2011
Dr Charlotte Alston Dr Lyndsey Butterworth Professor Mary Herbert Emeritus Professor Doug Turnbull	Analysis of mitochondrial DNA mutant loads in oocytes & preimplantation embryos for the 14709T > C & 14487T > C mtDNA mutations by pyrosequencing	2011
Dr Victoria Nesbitt Dr Matt Bates Emeritus Professor Doug Turnbull Professor Bobby McFarland	Diabetes is a risk factor for hypertension in adults with the m.3243A > G mitochondrial DNA mutation	2011
Professor Laura Greaves Dr Martin Barron Emeritus Professor Thomas Kirkwood Emeritus Professor Doug Turnbull	Differences in the accumulation of mitochondrial defects with age in mice and humans	2011
Dr Andrew Schaefer Professor Patrick Chinnery Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Grainne Gorman et al.	Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in muscle	2011
Professor Robert Taylor Emeritus Professor Doug Turnbull	Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration	2011
Dr Julie Murphy Ersong Shang Professor Robert Taylor Emeritus Professor Doug Turnbull	Exercise training in patients with mitochondrial myopathy: the analysis of COX-intermediate fibres	2011
Dr Matthias Elstner Dr Christopher Morris Dr Evelyn Jaros Emeritus Professor Doug Turnbull	Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death	2011
Professor Grainne Gorman Dr Joanna Elson Dr Thomas Ploetz Emeritus Professor Doug Turnbull Professor Mike Trenell et al.	Habitual Physical Activity in Mitochondrial Disease	2011
Emeritus Professor Doug Turnbull Professor Roger Whittaker	Hyperventilation during the EEG is safe in mitochondrial disease	2011
Professor Roger Whittaker Emeritus Professor Doug Turnbull Professor Miles Whittington Professor Mark Cunningham	Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons	2011
Jessica Zambonin Graham Campbell Dr Sarah Engeham Dr Iryna Ziabreva Emeritus Professor Doug Turnbull et al.	Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis	2011
Dr Lyndsey Butterworth Professor Mary Herbert Emeritus Professor Doug Turnbull	Manipulation of human abnormally fertilized pronuclear stage zygotes following vitrification	2011
Dr Charlotte Alston Dr Andrew Morris Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	Maternally inherited mitochondrial DNA disease in consanguineous families	2011
Dr Karolina Rygiel Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial abnormalities in inclusion body myositis	2011
Dr Iryna Ziabreva Jessica Zambonin Kim Krishnan Emeritus Professor Doug Turnbull Dr Don Mahad et al.	Mitochondrial defects within choroid plexus in multiple sclerosis	2011
Rebecca Say Professor Roger Whittaker Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Mitochondrial disease in pregnancy: a systematic review	2011
Graham Campbell Dr Iryna Ziabreva Dr Amy Reeve Kim Krishnan Emeritus Professor Doug Turnbull et al.	Mitochondrial DNA Deletions and Neurodegeneration in Multiple Sclerosis	2011
Dr Lyndsey Butterworth Dr Joanna Elson Dr Helen Tuppen Dr Lisa Ferguson Gareth Greggains et al.	Mitochondrial DNA disease: new options for prevention	2011
Sally Spendiff Professor Rita Horvath Professor Hanns Lochmuller Dr Mojgan Reza Dr Julie Murphy et al.	Mitochondrial DNA mutations in satellite cells	2011
Dr Iryna Ziabreva Jessica Zambonin Emeritus Professor Doug Turnbull Dr Don Mahad	Mitochondrial dysfunction and remyelination failure	2011
Dr Nichola Lax Emeritus Professor Doug Turnbull Dr Amy Reeve	Mitochondrial mutations: newly discovered players in neuronal degeneration	2011
Dr Victoria Nesbitt Professor Roger Whittaker Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	mtDNA disease for the neurologist	2011
Dr Matthias Elstner Dr Christopher Morris Emeritus Professor Doug Turnbull	Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions	2011
Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Mike Trenell Dr Kieren Hollingsworth Professor Grainne Gorman et al.	Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment	2011
Emeritus Professor Doug Turnbull	Preventing transmission of mitochondrial disease	2011
Professor Robert Taylor Dr Helen Swalwell Dr Denise Kirby Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Respiratory chain complex I deficiency caused by mitochondrial DNA mutations	2011
Dr Helen Swalwell Dr Denise Kirby Dr Anna Mitchell Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Respiratory chain complex I deficiency caused by mitochondrial DNA mutations	2011
Dr Andrew Schaefer Professor Patrick Chinnery Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Grainne Gorman et al.	RRM2B mutations are frequent in familial peo with multiple mtDNA deletions	2011
Dr Victoria Nesbitt Dr Robert Pitceathly Emeritus Professor Doug Turnbull Professor Bobby McFarland	The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK	2011
Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Mike Trenell Dr Kieren Hollingsworth Professor Grainne Gorman et al.	The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene	2011
Thiloka Ratnaike Kim Krishnan Professor Robert Taylor Emeritus Professor Doug Turnbull	Why does mitochondrial disease progress? From molecular genetics to patient phenotype	2011
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	A neurological perspective on mitochondrial disease	2010
Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor	A novel mitochondrial tRNA gene mutation causing PEO present at very low levels in skeletal muscle: implications for molecular diagnosis	2010
Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor	A novel mitochondrial tRNA(Glu) (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle	2010
Marco Nooteboom Professor Robert Taylor Professor Robert Lightowlers Emeritus Professor Thomas Kirkwood Professor John Mathers et al.	Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts	2010
Dr John Yarham Dr Joanna Elson Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Assigning pathogenicity to mitochondrial tRNA gene mutations	2010
Professor Laura Greaves Dr Martin Barron Dr Stefan Plusa Emeritus Professor Thomas Kirkwood Professor John Mathers et al.	Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts	2010
Professor Laura Greaves Dr Martin Barron Dr Stefan Plusa Emeritus Professor Thomas Kirkwood Professor John Mathers et al.	Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts	2010
Dr Joanna Elson Mark Cadogan Professor Bobby McFarland Dr Roger Whittaker Professor Rita Horvath et al.	Development and validation of a mitochondrial disease-specific quality of life scale (Mito-QOL)	2010
Professor Grainne Gorman Emeritus Professor Doug Turnbull Professor Rita Horvath Professor Roger Whittaker Angela Phillips et al.	Development and validation of a quality of life scale for mitochondrial disease (MITO-QOL)	2010
Professor Robert Taylor Emeritus Professor Doug Turnbull	Developmental and Pathological Changes in the Human Cardiac Muscle Mitochondrial DNA Organization, Replication and Copy Number	2010
Professor Rita Horvath Dr Julie Murphy Professor Robert Taylor Dr Mojgan Reza Professor Hanns Lochmuller et al.	Finding the missing gap - mitochondrial DNA deletions in muscle stem cells	2010
Professor Grainne Gorman Dr Joanna Elson Professor Mike Trenell Emeritus Professor Doug Turnbull	Habitual physical activity in mitochondrial disease - do we need to intervene?	2010
Professor Grainne Gorman Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Mike Trenell	Habitual physical activity in mitochondrial disease - do we need to intervene?	2010
Dr Anna Basu Professor Bobby McFarland Emeritus Professor Doug Turnbull	Kearns-Sayre Syndrome	2010
Dr Helen Tuppen Professor Bobby McFarland Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation	2010
Dr Helen Tuppen Professor Bobby McFarland Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation	2010
Dr Tora Smulders-Srinivasan Dr Denise Kirby Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations	2010
Emeritus Professor Doug Turnbull	Mitochondrial DNA and genetic disease	2010
Professor Laura Greaves Dr Patrick Yu Wai Man Kim Krishnan Nina Beadle Dr Martin Barron et al.	Mitochondrial DNA Defects and Selective Extraocular Muscle Involvement in CPEO	2010
Professor Andrew Trevelyan Dr Denise Kirby Dr Tora Smulders-Srinivasan Marco Nooteboom Professor Miles Whittington et al.	Mitochondrial DNA mutations affect calcium handling in differentiated neurons	2010
Dr Helen Tuppen Emeritus Professor Doug Turnbull Professor Robert Taylor	Mitochondrial DNA mutations and human disease	2010
Dr Helen Swalwell Emeritus Professor Doug Turnbull Professor Robert Taylor	Mitochondrial Transfer RNA(Phe) Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia- Rigidity	2010
Dr Robert Pitceathly Dr Victoria Nesbitt Professor Bobby McFarland Emeritus Professor Doug Turnbull	MRC mitochondrial cohort study: development of a UK database	2010
Dr Patrick Yu Wai Man Philip Griffiths Professor Grainne Gorman Professor Roger Whittaker Professor Mark Baker et al.	Multi-system neurological disease is common in patients with OPA1 mutations	2010
Dr Lyndsey Butterworth Dr Helen Tuppen Gareth Greggains Dr Julie Murphy Dr Lynsey Cree et al.	Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease	2010
Emeritus Professor Doug Turnbull	Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'	2010
Dr Matthias Elstner Emeritus Professor Doug Turnbull	Reply	2010
Dr Patrick Yu Wai Man Dr Gillian Borthwick Dr Langping He Geoffrey Taylor Professor Laura Greaves et al.	Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles	2010
Professor Grainne Gorman Joanna Stewart Dr Mark Buddles Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO	2010
Dr John Blackwood Professor Roger Whittaker Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells	2010
Dr Nichola Lax Dr Daria Diodato Emeritus Professor Doug Turnbull	The mitochondrial brain: From mitochondrial genome to neurodegeneration	2010
Dr Matthias Elstner Emeritus Professor Doug Turnbull	The PDXK rs2010795 Variant Is Not Associated with Parkinson Disease in Italy [reply]	2010
Vivienne Neeve Professor Gavin Hudson Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Patrick Chinnery et al.	What modifies the clinical presentation of the common homozygous p.A467T POLG mutation?	2010
Dr Denise Kirby Dr Kate Rennie Dr Tora Smulders-Srinivasan Professor Miles Whittington Professor Andrew Trevelyan et al.	Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation	2009
Professor Roger Whittaker Emeritus Professor Doug Turnbull	A diagnostic tattoo	2009
Dr Nimantha De Alwis Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Laura Greaves Professor Patrick Chinnery et al.	A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues	2009
Dr Helen Swalwell Emeritus Professor Doug Turnbull Professor Robert Taylor	A New Mitochondrial Transfer RNA(Pro) Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features	2009
Dr Evelyn Jaros Emeritus Professor Robert Perry Dr Amy Reeve Dr Andrew Schaefer Professor Robert Taylor et al.	Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions	2009
Emeritus Professor Doug Turnbull	Analysis of the clonal architecture of the human small intestinal epithelium establishes a common stem cell for all lineages and reveals a mechanism for the fixation and spread of mutations	2009
Professor Grainne Gorman Joanna Stewart Dr Mark Buddles Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients	2009
Professor Bobby McFarland Emeritus Professor Doug Turnbull	Batteries not included: diagnosis and management of mitochondrial disease	2009
Emeritus Professor Doug Turnbull Professor Robert Taylor	Bilateral hypertrophic olivary degeneration on MRI in two patients with POLG1 mutations	2009
Professor Grainne Gorman Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Clinical Reasoning: Blurred vision and dancing feet Restless legs syndrome presenting in mitochondrial disease	2009
Dr Don Mahad Dr Iryna Ziabreva Graham Campbell Dr Julie Murphy Dr Amy Reeve et al.	Detection of cytochrome c oxidase activity and mitochondrial proteins in single cells	2009
Emeritus Professor Doug Turnbull	Do mtDNA deletions drive premature aging in mtDNA mutator mice?	2009
Emeritus Professor Doug Turnbull	Do organellar genomes function as long-term redox damage sensors?	2009
Emeritus Professor Doug Turnbull	Human Small Intestinal Crypts are Clonal, Contain Multiple Stem Cells and Mutated Crypts Divide by Fission	2009
Dr Vanessa Hogan Dr Kathryn White Emeritus Professor Doug Turnbull Dr Philip Nichols	Increase in mitochondrial density within axons and supporting cells in response to demyelination in the Plp1 mouse model	2009
Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Laura Greaves Professor Patrick Chinnery	Locating the Stem Cell Niche and Tracing Hepatocyte Lineages in Human Liver	2009
Dr Don Mahad Dr Iryna Ziabreva Graham Campbell Dr Nichola Lax Dr Kathryn White et al.	Mitochondrial changes within axons in multiple sclerosis	2009
Professor Laura Greaves Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations and ageing	2009
Professor Laura Greaves Professor John Mathers Professor Robert Taylor Emeritus Professor Doug Turnbull	Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: Link to colon cancer?	2009
Dr Mazhor Aldosary Professor Roger Whittaker Professor Bobby McFarland Professor Judith Goodship Emeritus Professor Doug Turnbull et al.	Neuromuscular disease presentation with three genetic defects involving two genomes	2009
Dr Mazhor Aldosary Professor Roger Whittaker Professor Bobby McFarland Professor Judith Goodship Emeritus Professor Doug Turnbull et al.	Neuromuscular disease presentation with three genetic defects involving two genomes: The characterisation of a novel mitochondrial tRNA mutation exhibiting skewed segregation	2009
Dr Kathryn White Dr Vanessa Hogan Dr Philip Nichols Emeritus Professor Doug Turnbull	OPA1 Deficiency Associated with Increased Autophagy in Retinal Ganglion Cells in a Murine Model of Dominant Optic Atrophy	2009
Dr Joanna Elson Dr Helen Swalwell Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why?	2009
Dr Mark Buddles Emeritus Professor Doug Turnbull Professor Robert Taylor	Phenotypic Diversiry Associated with the Mitochondrial m.8313G > A Point Mutation	2009
Professor Laura Greaves Nina Beadle Geoffrey Taylor Dr Daniel Commane Professor John Mathers et al.	Quantification of mitochondrial DNA mutation load	2009
Emeritus Professor Doug Turnbull	Searching for the needle in the Haystacks	2009
Dr Matthias Elstner Dr Christopher Morris Professor Gavin Hudson Professor David Burn Professor Ian McKeith et al.	Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene	2009
Dr Amy Reeve Geoffrey Taylor Dr Joanna Elson Professor Robert Taylor Dr Christopher Morris et al.	The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons	2009
Professor Roger Whittaker Dr John Blackwood Dr Charlotte Alston Dr Joanna Elson Professor Bobby McFarland et al.	Urine Heteroplasmy is the Best Predictor of Clinical Outcome in the m.3243A>G mtDNA Mutation	2009
Joanna Stewart Professor Gavin Hudson Dr Patrick Yu Wai Man Professor Rita Horvath Philip Griffiths et al.	OPA1 in multiple mitochondrial DNA deletion disorders	2008
Professor Robert Taylor Professor Laura Greaves Dr Martin Barron Philip Griffiths Emeritus Professor Doug Turnbull et al.	A histochemical and molecular genetic investigation of the selective, extraocular muscle involvement in chronic progressive external ophthalmoplegia	2008
Dr Helen Swalwell Dr Kasia Tonska Dr Matthias Elstner Emeritus Professor Mike Sir Michael Rawlins Emeritus Professor Doug Turnbull et al.	A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one?	2008
Dr Amy Reeve Emeritus Professor Doug Turnbull	Age related mitochondrial degenerative disorders in humans	2008
Dr Lynsey Cree Dr Sheila Patel Dr Angela Pyle Dr Stephen Lynn Emeritus Professor Doug Turnbull et al.	Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets	2008
Emerita Professor Helen Rodgers Emeritus Professor Doug Turnbull Professor Niall Cartlidge	An extended activity of daily living scale for stroke in young adults	2008
Emeritus Professor Doug Turnbull Professor Mark Walker Anne Hattersley	Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation	2008
Dr Audrey Brown Dr Matthias Elstner Emeritus Professor Steve Yeaman Emeritus Professor Doug Turnbull Professor Mark Walker et al.	Does impaired mitochondrial function affect insulin signaling and action in cultured human skeletal muscle cells?	2008
Dr Matthias Elstner Emeritus Professor Doug Turnbull	Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions	2008
Dr Julie Murphy Dr Richard Charlton Dr Rita Barresi Emerita Professor Katherine Bushby Professor Robert Taylor et al.	G.P.10.09 Mitochondrial dysfunction in dysferlinopathy	2008
Professor Mike Trenell Emeritus Professor Doug Turnbull	G.P.3.15: Waking the sleeping giant; habitual physical inactivity in people with mitochondrial disease	2008
Adillah Binti Yusof Dr Martin Barron Dr Stephanie Needham Dr Andrew Schaefer Professor Robert Taylor et al.	Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation	2008
Professor Mark Baker Dr John Hanley Emeritus Professor Doug Turnbull Andrew Loughney	Hyperemesis gravidarum and first trimester sagittal sinus thrombosis	2008
Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility.	2008
Professor Laura Greaves Professor Robert Taylor Emeritus Professor Doug Turnbull	Mechanisms of Field Cancerization in the Human Stomach: The Expansion and Spread of Mutated Gastric Stem Cells	2008
Dr Don Mahad Dr Iryna Ziabreva Emeritus Professor Doug Turnbull	Mitochondrial defects in acute multiple sclerosis lesions	2008
Dr Andrew Schaefer Professor Bobby McFarland Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply	2008
Dr Amy Reeve Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations in desease, aging and neurodegeneration	2008
Dr Amy Reeve Emeritus Professor Doug Turnbull	Mitochondrial DNA Mutations in Disease, Aging, and Neurodegeneration	2008
Dr Don Mahad Dr Iryna Ziabreva Graham Campbell Dr Peter Hanson Emeritus Professor Doug Turnbull et al.	Mitochondrial dysfunction within chronically demyelinated axons in multiple sclerosis	2008
Professor Gavin Hudson Joanna Stewart Emeritus Professor Mike Sir Michael Rawlins Dr Andrew Schaefer Philip Griffiths et al.	Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance	2008
Professor Gavin Hudson Dr Patrick Yu Wai Man Professor Rita Horvath Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	Mutations in OPA1 cause multiple mtDNA deletions: a novel disorder of mtDNA maintenance	2008
Dr Amy Reeve Dr Joanna Elson Dr Christopher Morris Professor Robert Lightowlers Emeritus Professor Doug Turnbull et al.	Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons	2008
Adillah Binti Yusof Dr Julie Murphy Professor Gavin Hudson Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy	2008
Joanna Stewart Dr Angela Pyle Emeritus Professor Mike Sir Michael Rawlins Professor Gavin Hudson Dr Andrew Morris et al.	Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.	2008
Dr Joanna Rorbach Dr Helen Tuppen Professor Zofia Chrzanowska-Lightowlers Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation	2008
Professor Bobby McFarland Professor Roger Whittaker Professor Robert Taylor Emeritus Professor Doug Turnbull	Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A > G melas mutation	2008
Dr Andrew Schaefer Professor Bobby McFarland Professor Roger Whittaker Professor Robert Taylor Professor Patrick Chinnery et al.	Prevalence of mitochondrial DNA disease in adults	2008
Dr Andrew Schaefer Professor Roger Whittaker Professor Bobby McFarland Professor Patrick Chinnery Professor Robert Taylor et al.	Reply	2008
Dr Julie Murphy Dr Andrew Schaefer Professor Robert Taylor Emeritus Professor Doug Turnbull	Resistance training in patients with single, large-scale deletions of mitochondrial DNA	2008
Dr Don Mahad Emeritus Professor Doug Turnbull	Review: Mitochondria and disease progression in multiple sclerosis	2008
Dr Vanessa Hogan Dr Kathleen White Emeritus Professor Doug Turnbull Dr Philip Nichols	Role of mitochondria in a mouse model of multiple sclerosis	2008
Emerita Professor Helen Rodgers Emeritus Professor Doug Turnbull	Stroke in the young: the place of arteriopathies	2008
Professor Bobby McFarland Dr Helen Swalwell Emeritus Professor Doug Turnbull Emerita Professor Katherine Bushby Professor Robert Taylor et al.	The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy	2008
Professor Robert Taylor Professor Bobby McFarland Emeritus Professor Doug Turnbull	The NCG Service for Rare Mitochondrial Disorders of Adults and Children: a clinical and molecular genetics perspective	2008
Dr Charlotte Alston Professor Roger Whittaker Dr John Blackwood Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	Urinary epithelia as an indicator of m.3243A>G heteroplasmy levels and predictor of clinical outcome	2008
Dr Amy Reeve Professor Patrick Chinnery Dr John Blackwood Professor Robert Taylor Professor Robert Lightowlers et al.	What causes mitochondrial DNA deletions in human cells?	2008
Dr Helen Swalwell Professor Bobby McFarland Dr Joanna Elson Dr Langping He Emerita Professor Katherine Bushby et al.	A maternally inherited mitochondrial tRNA mutation masquerading as limb girdle muscular dystrophy: Insights into the transmission of mtDNA mutations	2007
Professor Robert Taylor Emeritus Professor Doug Turnbull	A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells	2007
Dr Helen Swalwell Emeritus Professor Doug Turnbull Professor Robert Taylor	A NOVEL MITOCHONDRIAL TRNAPRO MUTATION ASSOCIATED WITH MYOCLONIC EPILEPSY WITH RAGGED RED FIBRES AND OTHER NEUROLOGICAL FEATURES	2007
Dr Vanessa Hogan Dr Kathleen White Emeritus Professor David Bates Emeritus Professor Doug Turnbull Dr Philip Nichols et al.	An increase in axonal mitochondrial density may play a role in axonal loss following myelin degeneration in the Plp1 mouse model of demyelination	2007
Emeritus Professor Doug Turnbull Professor Robert Taylor	An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI	2007
Dr Vanessa Hogan Dr Kathleen White Emeritus Professor Doug Turnbull Dr Philip Nichols	Axonal adaptation to demyelination in the Plp mouse	2007
Dr Denise Kirby Emeritus Professor Doug Turnbull Professor Robert Taylor	Biochemical Assays of Respiratory Chain Complex Activity	2007
Dr Audrey Brown Dr Matthias Elstner Emeritus Professor Steve Yeaman Emeritus Professor Doug Turnbull Professor Mark Walker et al.	Decreased mitochondrial respiration impairs insulin action in cultured human skeletal muscle cells	2007
Professor Roger Whittaker Dr Andrew Schaefer Professor Bobby McFarland Professor Robert Taylor Professor Mark Walker et al.	Diabetes and deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?	2007
Professor Roger Whittaker Dr Andrew Schaefer Professor Robert Taylor Emeritus Professor Doug Turnbull	Differential diagnosis in ptosis and ophthalmoplegia: Mitochondrial disease or myasthenia? [11]	2007
Emeritus Professor Doug Turnbull	Discussion	2007
Emeritus Professor Doug Turnbull	Discussion	2007
Emeritus Professor Doug Turnbull	Discussion	2007
Emeritus Professor Doug Turnbull	Discussion	2007
Emeritus Professor Doug Turnbull	Discussion	2007
Emeritus Professor Doug Turnbull	Discussion	2007
Dr Amy Reeve Emeritus Professor Doug Turnbull	Do mitochondrial DNA mutations have a role in neurodegenerative disease?	2007
Dr Morteza Pourfarzam Emeritus Professor Doug Turnbull Dr Andrew Morris	ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency	2007
Dr Julie Murphy Dr Lyndsey Butterworth Emeritus Professor Doug Turnbull Professor Robert Taylor	Experimental Strategies Towards Treating Mitochondrial DNA Disorders	2007
Dr Andrew Morris Rachel Appleton Professor Robert Taylor Emeritus Professor Doug Turnbull	Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy	2007
Professor Bobby McFarland Professor Patrick Chinnery Dr Andrew Schaefer Dr Andrew Morris Sharon Foster et al.	Homoplasmy, heteroplasmy, and mitochondrial dystonia	2007
Emeritus Professor Doug Turnbull	Investigation and management of mitochondrial disorders	2007
Professor Robert Taylor Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Investigation of metabolic myopathies	2007
Geoffrey Taylor Professor Pamela Shaw Emeritus Professor Doug Turnbull Professor Robert Taylor	Investigation of the mitochondrial genome in patients with atypical motor neuron disease	2007
Emeritus Professor Doug Turnbull Professor Robert Taylor	MELAS associated with mutations in the POLG1 gene	2007
Dr Don Mahad Dr Iryna Ziabreva Emeritus Professor Doug Turnbull	Mitochondria and primary oligodendrocyte dysfunction in multiple sclerosis	2007
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial disease - Its impact, etiology, and pathology	2007
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial Disease-Its Impact, Etiology, and Pathology	2007
Professor Laura Greaves Dr Amy Reeve Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations and aging	2007
Professor Laura Greaves Dr Amy Reeve Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations and aging	2007
Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial DNA Transcription: Regulating the Power Supply	2007
Dr Don Mahad Georgia Campbell Dr Iryna Ziabreva Emeritus Professor Doug Turnbull	Mitochondrial dysfunction as a cause of axonal degeneration in the progressive stage of multiple sclerosis	2007
Professor Gavin Hudson Dr Andrew Schaefer Professor Robert Taylor Watcharee Tiangyou Professor David Burn et al.	Mutation of the Linker Region of the Polymerase {gamma}-1 (POLG1) Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism	2007
Professor Gavin Hudson Dr Andrew Schaefer Professor Robert Taylor Professor David Burn Emeritus Professor Doug Turnbull et al.	Mutation of the linker region of the polymerase γ-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism	2007
Professor Laura Greaves Dr Daniel Commane Dr Hazel Greetham Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Novel preliminary findings of mitochondrial DNA mutations in colonic crypts of patients with diverticular disease (the Boricc study)	2007
Professor Roger Whittaker Dr Andrew Schaefer Professor Bobby McFarland Professor Robert Taylor Professor Mark Walker et al.	Prevalence and progression of diabetes in mitochondrial disease	2007
Dr Joanna Elson Emeritus Professor Doug Turnbull	Relative rates of evolution in the coding and control regions of African mtDNAs	2007
Dr Helen Swalwell Professor Bobby McFarland Emeritus Professor Doug Turnbull Professor Robert Taylor	Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation	2007
Dr Matthias Elstner Dr Christopher Morris Emeritus Professor Doug Turnbull	Targeted gene expression analysis in Parkinson's disease and ageing	2007
Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Robert Taylor	Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach	2007
Professor Laura Greaves Dr Amy Reeve Emeritus Professor Doug Turnbull	The ageing mitochondrial genome	2007
Professor Patrick Chinnery Professor Gavin Hudson Professor Robert Taylor Emeritus Professor Doug Turnbull Dr Vankateswara Ramesh et al.	When and how should neurologists test for mutations in POLG?	2007
Professor Robert Taylor Dr Andrew Schaefer Dr Langping He Professor Bobby McFarland Professor Roger Whittaker et al.	[abstract] The prevalence of pathogenic mitochondrial DNA mutations in adults	2006
Emeritus Professor Doug Turnbull Professor Robert Taylor	A novel mitochondrial DNA tRNA gene mutation in a family with mitochondrial encephalopathy	2006
Dr Andrew Schaefer Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Bobby McFarland	A scale to monitor progression and treatment of mitochondrial disease in children	2006
Professor Robert Taylor Emeritus Professor Doug Turnbull	An unusual case of congenital muscular dystrophy with mitochondrial structural abnormalities	2006
Professor Patrick Chinnery Emeritus Professor Doug Turnbull Philip Griffiths	Assessment of visual function in chronic progressive external ophthalmoplegia	2006
Professor Laura Greaves Emeritus Professor Doug Turnbull	Clonal expansion in the human gut - Mitochondrial DNA mutations show us the way	2006
Dr Audrey Brown Dr Matthias Elstner Emeritus Professor Steve Yeaman Emeritus Professor Doug Turnbull Professor Mark Walker et al.	Decreased mitochondrial respiration impairs insulin action in cultured human skeletal muscle cells	2006
Dr Joanna Elson Dr Christopher Morris Professor Jim Edwardson Emeritus Professor Doug Turnbull	Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?	2006
Dr Julie Murphy Professor Robert Taylor Dr Andrew Schaefer Dr Joseph Newman Dr Martin Barron et al.	Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions	2006
Dr Julie Murphy Emeritus Professor Doug Turnbull Professor Robert Taylor	Fatal mitochondrial DNA depletion myopathy due to novel mutations in the TK2 gene	2006
Dr Christopher Morris Geoffrey Taylor Dr Amy Reeve Emeritus Professor Robert Perry Dr Evelyn Jaros et al.	High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease	2006
Dr Helen Andrews Dr Kathryn White Emeritus Professor David Bates Emeritus Professor Doug Turnbull Dr Philip Nichols et al.	Increased axonal mitochondrial activity as an adaptation to myelin deficiency in the Shiverer mouse	2006
Dr Andrew Schaefer Dr Joanna Elson Professor Bobby McFarland Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Mitochondrial disease in adults: A scale to monitor progression and treatment	2006
Dr Ramesh Arasaradnam Professor Laura Greaves Dr Daniel Commane Professor John Mathers Professor Robert Taylor et al.	Mitochondrial DNA (MTDNA) mutations in human colonic crypts: A novel biomarker of colorectal cancer.	2006
Professor Laura Greaves Professor Robert Taylor Dr Martin Barron Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission	2006
Professor Caroline Relton Gordon Taylor Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations in individuals occupationally exposed to ionizing radiation	2006
Emeritus Professor Doug Turnbull	Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders	2006
Dr Samir Gupta Dr Jonathan Wyllie Emeritus Professor Doug Turnbull Professor Robert Taylor	Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period	2006
Professor Laura Greaves Emeritus Professor Doug Turnbull	Modelling of the expansion of normal human colonic crypts	2006
Dr Susan Betts Dr Evelyn Jaros Emeritus Professor Robert Perry Dr Andrew Schaefer Professor Robert Taylor et al.	Molecular neuropathology of MELAS: Level of heteroplasmy in individual neurones and evidence of extensive vascular involvement	2006
Professor Robert Taylor Emeritus Professor Doug Turnbull	Monoclonal conversion in human gastric glands: Insights into stem cell and clonal architecture	2006
Professor Robert Taylor Emeritus Professor Doug Turnbull	Monoclonal conversion of human gastric glands provides insights into stem cell and clonal architecture	2006
Dr Gillian Borthwick Professor Robert Taylor Dr Timothy Walls Dr Kasia Tonska Geoffrey Taylor et al.	Motor neuron disease in a patient with a mitochondrial tRNA^lle mutation	2006
Dr Steve Durham Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia	2006
Professor Rita Horvath Professor Gavin Hudson Professor Hanns Lochmuller Professor Bobby McFarland Dr Vankateswara Ramesh et al.	Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene	2006
Professor Gavin Hudson Professor Robert Taylor Dr Andrew Schaefer Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al.	POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions	2006
Dr Debbie Pye Dimitra-Smaragda Kyriakouli Geoffrey Taylor Dr Matthias Elstner Professor Zofia Chrzanowska-Lightowlers et al.	Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants	2006
Dr Steve Durham Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Progressive depletion of mtDNA in mitochondrial myopathy	2006
Dr Helen Swalwell Emeritus Professor Doug Turnbull Professor Robert Taylor	Pure myopathy associated with a novel mitochondrial tRNA gene mutation	2006
Dr Anna Mitchell Dr Joanna Elson Professor Robert Taylor Emeritus Professor Doug Turnbull	Sequence variation in mitochondrial complex I genes: Mutation or polymorphism?	2006
Dr Morteza Pourfarzam Emeritus Professor Doug Turnbull	So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager	2006
Dr Kate Rennie Dr Matthias Elstner Professor Zofia Chrzanowska-Lightowlers Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis	2006
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders	2006
Dr Richard Andrews Emeritus Professor Doug Turnbull Michael Birch Sharon Foster Professor Patrick Chinnery et al.	The role of mitochondrial haplogroups in primary open angle glaucoma	2006
Professor Mary Herbert Professor Patrick Chinnery Professor Robert Taylor Professor Robert Lightowlers Dr Lyndsey Butterworth et al.	Transmission of mitochondrial DNA disorders: possibilities for the future	2006
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Treatment for mitochondrial disorders	2006
Dr Anna Mitchell Dr Andrew Schaefer Dr Margaret Jackson Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast	2005
Dr Helen Andrews Dr Kathleen White Christopher Thomson Emeritus Professor David Bates Emeritus Professor Doug Turnbull et al.	A role for mitochondria in axonal loss in multiple sclerosis: studies in the Shiverer mouse model	2005
Dr Philip Nichols Dr Helen Andrews Dr Kathleen White Emeritus Professor David Bates Emeritus Professor Doug Turnbull et al.	A role for mitochondria in chronic axonal loss in multiple sclerosis: Studies at early and late time points in the shiverer mouse model	2005
Dr Helen Andrews Dr Kathleen White Emeritus Professor David Bates Emeritus Professor Doug Turnbull Dr Philip Nichols et al.	A role for mitochondria in chronic axonal loss in multiple sclerosis: studies at early and late time points in the shiverer mouse model	2005
Professor Nick Reynolds Dr Adrian Frank Lindi Skitt Emeritus Professor Doug Turnbull Professor Mark Birch-Machin et al.	Anthralin interacts with the Q pool and induces cytochrome c release, caspase 3 activation and apoptosis in human keratinocytes	2005
Professor Robert Taylor Emeritus Professor Doug Turnbull	Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations	2005
Professor Laura Greaves Emeritus Professor Doug Turnbull	Clusters of phenotypically related human colonic crypts develop through crypt fission: Implications for colorectal carcinogenesis	2005
Professor Laura Greaves Emeritus Professor Doug Turnbull	Clusters of phenotypically-related human colonic crypts develop through crypt fission: Implications for colorectal carcinogenesis	2005
Sharon Foster Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree	2005
Dr Martin Barron Professor Patrick Chinnery Denise Howel Dr Andrew Schaefer Professor Robert Taylor et al.	Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy	2005
Professor Nick Reynolds Dr Adrian Frank Lindi Skitt Emeritus Professor Doug Turnbull Professor Mark Birch-Machin et al.	Dithranol induces cytochrome c release, caspase 3 activation and apoptosis in human keratinocytes	2005
Emeritus Professor Doug Turnbull Professor Robert Taylor	LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation	2005
Dr Helen Andrews Dr Kathleen White Emeritus Professor David Bates Emeritus Professor Doug Turnbull Dr Philip Nichols et al.	Mitochondria and axonal loss in multiple sclerosis: the missing link?	2005
Dr Helen Andrews Dr Kathleen White Christopher Thomson Emeritus Professor David Bates Emeritus Professor Doug Turnbull et al.	Mitochondria and axonal loss in multiple sclerosis: the shiverer mouse as a model of secondary progressive MS	2005
Professor Mark Walker Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial diabetes	2005
Emeritus Professor Doug Turnbull	Mitochondrial disorders	2005
Dr Christopher Morris Emeritus Professor Doug Turnbull	Mitochondrial DNA deletions in dementia with Lewy bodies - A single neuron study	2005
Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations in human disease	2005
Dr Helen Andrews Dr Philip Nichols Emeritus Professor David Bates Emeritus Professor Doug Turnbull	Mitochondrial dysfunction plays a key role in progressive axonal loss in Multiple Sclerosis	2005
Emeritus Professor Doug Turnbull	Monoclonal conversion in human gastric glands gives insights into stem cell and clonal architecture	2005
Dr Joanna Elson Professor Patrick Chinnery Emeritus Professor Doug Turnbull	mtDNA mutations and common neurodegenerative disorders	2005
Emeritus Professor Doug Turnbull	Nuclear genes and mitochondrial translation: A new class of genetic disease	2005
Dr Terence Smith Dr Andrew Schaefer Emeritus Professor Doug Turnbull Philip Griffiths	Ocular motility findings in chronic progressive external ophthalmoplegia	2005
Dr Andrew Schaefer Philip Griffiths Emeritus Professor Doug Turnbull Professor Robert Taylor	Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis	2005
Professor Robert Taylor Dr Joanna Elson Professor Bobby McFarland Dr Anna Mitchell Emeritus Professor Doug Turnbull et al.	Sequence variation in the mitochondrial genome: what is the pathogenic mutation?	2005
Emeritus Professor Doug Turnbull Professor Mark Birch-Machin Professor Nick Reynolds	The anti-psoriatic drug anthralin accumulates in keratinocyte mitochondria, dissipates mitochondrial membrane potential, and induces apoptosis through a pathway dependent on respiratory competent mitochondria	2005
Dr Andrew Schaefer Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Timelines in mitochondrial DNA disease: Genotypes, phenotypes, and disease progression	2005
Dr Andrew Schaefer Dr Julie Murphy Dr Martin Barron Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Treating the untreatable: Exercise induced stem cell activation as a novel treatment for mitochondrial myopathy	2005
Professor Bobby McFarland Dr Debbie Pye Dr Michael Glanville Professor Zofia Chrzanowska-Lightowlers Emeritus Professor Doug Turnbull et al.	A homoplasmic mtDNA mutation promotes rapid decay of deacylated mt-tRNAVal	2004
Professor Robert Taylor Dr Margaret Johnson Professor Zofia Chrzanowska-Lightowlers Dr Andrew Morris Emeritus Professor Doug Turnbull et al.	A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome	2004
Professor Bobby McFarland Professor Robert Taylor Professor Patrick Chinnery Emeritus Professor Doug Turnbull	A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis	2004
Dr Joanna Elson Emeritus Professor Doug Turnbull	African haplogroup L mtDNA sequences show violations of clock-like evolution	2004
Dr Joanna Elson Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough	2004
Professor Bobby McFarland Dr Joanna Elson Professor Robert Taylor Emeritus Professor Doug Turnbull	Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough	2004
Professor Robert Taylor Dr Andrew Schaefer Christine Hayes Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene	2004
Emeritus Professor Doug Turnbull	Clinical presentation and disease course of mitochondrial disease in adults	2004
Dr Joanna Elson Emeritus Professor Doug Turnbull	Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection	2004
Professor Bobby McFarland Dr Denise Kirby Emeritus Professor Doug Turnbull Professor Robert Taylor	De Novo Mutations in the Mitochondrial ND3 Gene as a Cause of Infantile Mitochondrial Encephalopathy and Complex I Deficiency	2004
Dr Martin Barron Emeritus Professor Doug Turnbull Professor Robert Taylor	Endurance training in patients with single, large-scale mtDNA deletions: molecular genetic studies	2004
Professor Bobby McFarland Dr Andrew Schaefer Dr Julie Murphy Dr Stephen Lynn Christine Hayes et al.	Familial Myopathy: New Insights into the T14709C Mitochondrial tRNA Mutation	2004
Dr Debbie Pye Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease	2004
Dr Martin Barron Philip Griffiths Emeritus Professor Doug Turnbull	Mitochondria and the eye: ageing and disease	2004
Dr Andrew Schaefer Professor Bobby McFarland Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Mitochondrial disease: new prevalence figures with major resource implications	2004
Professor Robert Taylor Professor Patrick Chinnery Professor Robert Lightowlers Dr Andrew Schaefer Emeritus Professor Doug Turnbull et al.	Mitochondrial DNA deletion in "identical" twin brothers	2004
Dr Langping He Professor Robert Taylor Professor Patrick Chinnery Professor Robert Lightowlers Dr Andrew Schaefer et al.	Mitochondrial DNA deletion in identical twins	2004
Dr Patrick Yu Wai Man Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees	2004
Professor Robert Taylor Dr Langping He Professor Laura Greaves Geoffrey Taylor Dr Martin Barron et al.	Mitochondrial DNA mutations in human colonic crypt stem cells	2004
Professor Laura Greaves Dr Martin Barron Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations in human colonic crypt stem cells - implications for function	2004
Professor Robert Taylor Anna Lewall Professor Stephen Proctor Dr Peter Middleton Emeritus Professor Doug Turnbull et al.	Mitochondrial DNA mutations in the haematopoietic system.	2004
Dr Denise Kirby Professor Bobby McFarland Emeritus Professor Doug Turnbull Professor Robert Taylor	Mutations of the mitochondrial ND1 gene as a cause of MELAS	2004
Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Neuropathological Aspects of Mitochondrial DNA Disease	2004
Professor Patrick Chinnery Dr Andrew Schaefer Emeritus Professor Doug Turnbull Professor Robert Taylor	No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation	2004
Emeritus Professor Doug Turnbull Professor Patrick Chinnery	No evidence of an association between the mtDNA 16184-93 polyC tract and late onset dementia	2004
Professor Jim Edwardson Emeritus Professor Doug Turnbull Professor Ian McKeith Dr Christopher Morris Professor Patrick Chinnery et al.	No evidence of an association between the T16189C mtDNA variant and late onset dementia	2004
Dr Andrew Schaefer Professor Bobby McFarland Professor Patrick Chinnery Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Nonivasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells	2004
Dr Andrew Schaefer Dr Martin Barron Philip Griffiths Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Ophthalmoplegia: When all the tests are negative	2004
Professor Bobby McFarland Professor Robert Taylor Dr Joanna Elson Professor Robert Lightowlers Emeritus Professor Doug Turnbull et al.	Proving pathogenicity: When evolution is not enough	2004
Professor Patrick Chinnery Professor Hanns Lochmuller Professor Rita Horvath Professor Robert Taylor Professor John Matthews et al.	Risk of developing a mitochondrial DNA deletion disorder	2004
Professor Gavin Hudson Dr Andrew Schaefer Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al.	Sensory ataxic neuropathy due to a novel C10Orf2 (Twinkle) gene mutation with germline mosaicism	2004
Dr Margaret Jackson Dr Margaret Johnson Professor Zofia Chrzanowska-Lightowlers Professor Robert Taylor Professor Robert Lightowlers et al.	Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNA^Ser(UCN) gene	2004
Dr Gunther Ross Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Strategies for treating disorders of the mitochondrial genome	2004
Professor Robert Taylor Dr Andrew Schaefer Dr Martin Barron Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	The diagnosis of mitochondrial muscle disease	2004
Dr Martin Barron Philip Griffiths Emeritus Professor Doug Turnbull Emeritus Professor David Bates Dr Philip Nichols et al.	The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head	2004
Professor Patrick Chinnery Dr Andrew Schaefer Emeritus Professor Doug Turnbull	The epidemiology of mitochondrial disorders	2004
Dr Andrew Schaefer Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Patrick Chinnery	The epidemiology of mitochondrial disorders - past, present and future	2004
Joanne Betts Dr Evelyn Jaros Emeritus Professor Robert Perry Dr Andrew Schaefer Dr Martin Barron et al.	The neuropathology of mitochondrial DNA disorders	2004
Professor Patrick Chinnery Professor Hanns Lochmuller Professor Laurence Bindoff Professor Robert Taylor Professor John Matthews et al.	The risk of developing a mitochondrial DNA deletion disorder	2004
Dr Martin Barron Emeritus Professor Doug Turnbull Emeritus Professor David Bates Dr Philip Nichols	[abstract] Neuronal loss in Multiple Sclerosis: Role of Mitochondria in the Axonal response to Demyelination	2003
Professor Robert Taylor Dr Hugh Bain Christine Hayes Dr Martin Barron Professor Robert Lightowlers et al.	A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy	2003
Emeritus Professor Doug Turnbull Professor Robert Taylor	A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia	2003
Professor Zofia Chrzanowska-Lightowlers Dr Morteza Pourfarzam Professor Robert Taylor Emeritus Professor Doug Turnbull	A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency	2003
Dr Paul Smith Dr Gunther Ross Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers et al.	Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase γ in vitro is not impaired	2003
Dr Theresa Wardell Professor Patrick Chinnery Dr Gillian Borthwick Professor Robert Taylor Professor Graham Jackson et al.	Changes in the human mitochondrial genome after treatment of malignant disease	2003
Dr Theresa Wardell Elizabeth Ferguson Professor Patrick Chinnery Dr Gillian Borthwick Professor Robert Taylor et al.	Changes in the human mitochondrial genome after treatment of malignant disease	2003
Professor Patrick Chinnery Denise Howel Emeritus Professor Doug Turnbull Dr Margaret Johnson	Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres	2003
Professor Bobby McFarland Dr Denise Kirby Emeritus Professor Doug Turnbull Professor Robert Taylor	De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency	2003
Dr Andrew Schaefer Professor Bobby McFarland Dr Julie Murphy Dr Stephen Lynn Christine Hayes et al.	Familial mitochondrial myopathy: New insights into the T14709C mitochondrial tRNA mutation	2003
Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy	2003
Dr Brian Bigger Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Gene therapy for mitochondrial DNA disorders	2003
Professor Robert Taylor Professor Patrick Chinnery Geoffrey Taylor Emeritus Professor Doug Turnbull	Genotypes from patients indicate no paternal mitochondrial DNA contribution	2003
Dr Stephen Lynn Dr Gillian Borthwick Richard Charnley Professor Mark Walker Emeritus Professor Doug Turnbull et al.	Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells	2003
Professor Robert Taylor Christopher Hayes Emerita Professor Katherine Bushby Emeritus Professor Doug Turnbull Professor Pamela Shaw et al.	Investigation of mitochondrial function in hereditary spastic paraparesis	2003
Emeritus Professor Doug Turnbull Professor Robert Taylor	Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA	2003
Professor Robert Taylor Dr Martin Barron Dr Gillian Borthwick Professor Patrick Chinnery Dr David Samuels et al.	Mitochondrial DNA mutations and aging in human colonic crypts and stem cells	2003
Professor Robert Taylor Dr Martin Barron Dr Gillian Borthwick Professor Patrick Chinnery Dr David Samuels et al.	Mitochondrial DNA mutations in human colonic crypt stem cells	2003
Dr Andrew Morris Emeritus Professor Doug Turnbull Dr Morteza Pourfarzam	Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency	2003
Professor Patrick Chinnery Professor Robert Taylor Dr Andrew Schaefer Emeritus Professor Doug Turnbull	Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)	2003
Dr David Cottrell Dr Andrew Schaefer Dr Gillian Borthwick Emeritus Professor Robert Perry Emeritus Professor Doug Turnbull et al.	Neuronal apoptosis occurs in patients with mitochondrial DNA disorders	2003
Philip Griffiths Dr Andrew Schaefer Emeritus Professor Doug Turnbull	Ocular motility findings in chronic progressive external ophthalmoplegia	2003
Anna Lewall Dr Liewi Luo Professor Stephen Proctor Dr Peter Middleton Professor Robert Taylor et al.	Somatic mitochondrial DNA mutations in adult-onset leukaemia	2003
Dr Gunther Ross Dr Paul Smith Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Synthesis of trifunctional PNA-benzophenone derivatives for mitochondrial targeting, selective DNA binding, and photo-cross-linking	2003
Dr Patrick Yu Wai Man Philip Griffiths Emeritus Professor Doug Turnbull Professor Patrick Chinnery	The epidemiology of Leber hereditary optic neuropathy in the North East of England	2003
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	The pedigree rate of sequence divergence in the human mitochondrial genome: There is a difference between phylogenetic and pedigree rates	2003
Dr Patrick Yu Wai Man Dr Christopher Morris Emeritus Professor Doug Turnbull Professor Patrick Chinnery	The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy	2003
Dr Paul Smith Dr Gunther Ross Dr Theresa Wardell Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	The use of PNAs and their derivatives in mitochondrial gene therapy	2003
Professor Patrick Chinnery Professor Robert Lightowlers Emeritus Professor Doug Turnbull	A high frequency of mtDNA polymorphisms in HeLa cell sublines	2002
Professor Patrick Chinnery Professor Robert Lightowlers Emeritus Professor Doug Turnbull	A high frequency of mtDNA polymorphisms in HeLa cell sublines	2002
Professor Robert Taylor Dr Andrew Schaefer Professor Bobby McFarland Emeritus Professor Doug Turnbull	A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy	2002
Emeritus Professor Doug Turnbull Professor Robert Lightowlers	A roundabout route to gene therapy	2002
Emeritus Professor Doug Turnbull	Ablation of cellular prion protein expression affects mitochondrial numbers and morphology	2002
Professor Patrick Chinnery Dr David Samuels Dr Joanna Elson Emeritus Professor Doug Turnbull	Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: Is there a common mechanism?	2002
Professor Tiina Tyni Dr Morteza Pourfarzam Emeritus Professor Doug Turnbull	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	2002
Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Can mitochondrial DNA mutations cause sperm dysfunction?	2002
Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Bobby McFarland Dr Andrew Schaefer	Defects of the mitochondrial genome	2002
Dr Stephen Lynn Geoffrey Taylor Dr Theresa Wardell Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome	2002
Professor Patrick Chinnery Dr Steve Durham Dr Theresa Wardell Dr Gillian Borthwick Professor Robert Taylor et al.	Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR	2002
Dr Jane Hutton Professor Robert Taylor Emeritus Professor Doug Turnbull	GRACILE syndrome is caused by a point mutation in BCS1L suggesting a new role of the BCS1L in iron metabolism	2002
Dr Jane Hutton Professor Robert Taylor Emeritus Professor Doug Turnbull	GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L	2002
Professor Bobby McFarland Professor Robert Taylor Professor Patrick Chinnery Professor Robert Lightowlers Emeritus Professor Doug Turnbull et al.	Health, disability and death: A new spectrum of disease for homoplasmic mutations of mitochondrial DNA	2002
Professor Patrick Chinnery Dr David Samuels Emeritus Professor Doug Turnbull	Heteroplasmic mitochondrial DNA mutations: Determining the mechanism of inheritance	2002
Professor Robert Taylor Christine Hayes Emerita Professor Katherine Bushby Emeritus Professor Doug Turnbull Professor Pamela Shaw et al.	Investigation of mitochondrial function in hereditary spastic paraparesis	2002
Dr Patrick Yu Wai Man Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Leber hereditary optic neuropathy	2002
Professor Robert Taylor Dr Andrew Morris Dr Michael Hutchinson Emeritus Professor Doug Turnbull	Leigh disease associated with a novel mitochondrial DNA ND5 mutation	2002
Fiona Menzies Dr Mark Cookson Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Zofia Chrzanowska-Lightowlers et al.	Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis	2002
Professor Tiina Tyni Dr Simon Eaton Dr Morteza Pourfarzam Dr Richard Andrews Emeritus Professor Doug Turnbull et al.	Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium	2002
Professor Robert Taylor Christine Hayes Emeritus Professor Doug Turnbull	Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness	2002
Professor Bobby McFarland Kim Clark Dr Andrew Morris Professor Robert Taylor Dr Sheila MacPhail et al.	Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation	2002
Dr Patrick Yu Wai Man Emeritus Professor Doug Turnbull Professor Patrick Chinnery	NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy	2002
Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Novel therapies for mitochondrial myopathies	2002
Emeritus Professor Doug Turnbull	Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups	2002
Professor Patrick Chinnery Dr Ann Curtis Emeritus Professor Doug Turnbull	Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations	2002
Philip Griffiths Dr Richard Andrews Emeritus Professor Doug Turnbull	The distribution of mitochondrial activity in relation to optic nerve structure	2002
Dr Joanna Elson Dr David Samuels Dr Margaret Johnson Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al.	The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy	2002
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	The neurology of mitochondrial DNA disease	2002
Dr David Cottrell Dr Gillian Borthwick Mary Johnson Emeritus Professor Doug Turnbull	The role of cytochrome c oxidase deficient hippocampal neurones in Alzheimer's disease	2002
Emeritus Professor Doug Turnbull Professor Mark Walker	Variation in the calpain-10 gene affects blood glucose levels in the British population	2002
Dr David Cottrell Dr Theresa Wardell Emeritus Professor Doug Turnbull Dr Margaret Johnson	Accelerated ageing changes in the choroid plexus of a case with multiple mitochondrial DNA deletions	2001
Professor Robert Taylor Dr Theresa Wardell Dr Paul Smith Emeritus Professor Doug Turnbull Professor Robert Lightowlers et al.	An antigenomic strategy for treating heteroplasmic mtDNA disorders	2001
Dr Joanna Elson Dr Richard Andrews Professor Patrick Chinnery Professor Robert Lightowlers Emeritus Professor Doug Turnbull et al.	Analysis of European mtDNAs for recombination	2001
Professor Robert Taylor Dr Rajinder Singh-Kler Christine Hayes Emeritus Professor Doug Turnbull	Annals 25th anniversary	2001
Professor Mark Birch-Machin Emeritus Professor Doug Turnbull	Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues	2001
Paul Counter Dr Theresa Wardell Professor Robert Taylor Emeritus Professor Doug Turnbull	Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect	2001
Paul Counter Dr Theresa Wardell Professor Robert Taylor Emeritus Professor Doug Turnbull Dr Pamela Robinson et al.	Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect	2001
Emeritus Professor Doug Turnbull Professor Robert Lightowlers Professor Robert Taylor	Current perspectives in the treatment of mitochondrial DNA diseases	2001
Philip Griffiths Dr Martin Barron Dr Steve Durham Michael Clarke Emeritus Professor Doug Turnbull et al.	Distribution of mitochondrial dysfunction in ageing ocular tissues.	2001
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Epidemiology and treatment of mitochondrial disorders	2001
Dr Richard Andrews Emeritus Professor Doug Turnbull	Investigation of mitochondrial gene mutations in glaucoma.	2001
Professor Patrick Chinnery Dr Richard Andrews Emeritus Professor Doug Turnbull	Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?	2001
Professor Robert Taylor Dr Theresa Wardell Professor Bernard Connolly Emeritus Professor Doug Turnbull Professor Robert Lightowlers et al.	Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates	2001
Dr Martin Barron Dr Margaret Johnson Dr Richard Andrews Michael Clarke Philip Griffiths et al.	Mitochondrial abnormalities in ageing macular photoreceptors	2001
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options	2001
Dr David Cottrell Dr Gillian Borthwick Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations in disease and ageing	2001
Dr David Cottrell Dr Gillian Borthwick Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations in disease and ageing	2001
Dr David Cottrell Dr Margaret Johnson Emeritus Professor Doug Turnbull	Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD	2001
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Mitochondrial Genetics	2001
Professor Robert Taylor Dr Theresa Wardell Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Molecular basis for treatment of mitochondrial myopathies	2001
Dr Meryl Lusher Dr Janet Lindsey Emeritus Professor Doug Turnbull Emerita Professor Katherine Bushby Professor Pamela Shaw et al.	Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.	2001
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Point mutations of the mtDNA control region in normal and neurodegenerative human brains	2001
Professor Robert Taylor Dr Rajinder Singh-Kler Christine Hayes Emeritus Professor Doug Turnbull	Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene	2001
Professor David Samuels Dr Enid Michael Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Random genetic drift determines the level of mutant mtDNA in human primary oocytes	2001
Dr Joanna Elson Professor David Samuels Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age	2001
Professor Robert Lightowlers Professor Robert Taylor Emeritus Professor Doug Turnbull	Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: Implications for mitochondrial DNA replication, expression and disease	2001
Professor Robert Taylor Gordon Taylor Dr Steve Durham Emeritus Professor Doug Turnbull	The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations	2001
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	The ischaemic lactate-ammonia test	2001
Professor Robert Taylor Emeritus Professor Doug Turnbull	The mitochondrial genome and mitochondrial muscle disorders	2001
Professor Patrick Chinnery Dr Richard Andrews Dr Rajinder Singh-Kler Emeritus Professor Doug Turnbull	The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy	2001
Professor Patrick Chinnery Dr Margaret Johnson Emeritus Professor Doug Turnbull	The natural history of mitochondrial DNA disease provides new insight into the pathogenetic mechanisms	2001
Emeritus Professor Doug Turnbull	74th ENMC International Workshop: Mitochondrial Diseases 19-20 November 1999, Naarden, The Netherlands	2000
Professor Robert Taylor Dr Theresa Wardell Dr Gillian Borthwick Dr Elizabeth Brierley Emeritus Professor Doug Turnbull et al.	Analysis of Mitochondrial DNA Mutations	2000
Professor Robert Taylor Dr Richard Andrews Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Analysis of mitochondrial DNA mutations: point mutations	2000
Professor Mark Walker Sarah Jackson Emeritus Professor Steve Yeaman Emeritus Professor Doug Turnbull	Decreased glucose uptake in myoblasts from insulin resistant non-diabetic relatives of type 2 diabetic families	2000
Dr Stephen Lynn Emeritus Professor Doug Turnbull Professor Mark Walker	Intermediate expansions of a X25/frataxin gene GAA repeat and Type II diabetes: Assessment using parent-offspring trios [1]	2000
Professor Mark Birch-Machin Professor Robert Taylor Emeritus Professor Doug Turnbull	Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene	2000
Dr David Cottrell Emeritus Professor Doug Turnbull	Mitochondria and ageing	2000
Dr David Cottrell Emeritus Professor Doug Turnbull	Mitochondria and Aging (Review)	2000
Professor Patrick Chinnery Geoffrey Taylor Dr Richard Andrews Dr Christopher Morris Professor Robert Taylor et al.	Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies	2000
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations in the pathogenesis of human disease	2000
Professor Robert Taylor Dr Theresa Wardell Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Molecular basis for treatment of mitochondrial myopathies	2000
Dr David Cottrell Dr Margaret Johnson Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder	2000
Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Peptide nucleic acid and delivery to human mitochondria	2000
Dr David Cottrell Dr Emma Watson Dr Gillian Borthwick Dr Margaret Johnson Geoffrey Taylor et al.	Role of mitochondrial DNA mutations in disease and aging	2000
Professor Patrick Chinnery Dr Margaret Johnson Dr Theresa Wardell Dr Rajinder Singh-Kler Professor Robert Taylor et al.	The epidemiology of pathogenic mitochondrial DNA mutations	2000
Professor Patrick Chinnery Dr David Samuels Emeritus Professor Doug Turnbull Professor Robert Lightowlers	The inheritance of mitochondrial DNA heteroplasmy: Random drift, selection or both?	2000
Professor Patrick Chinnery Dr Gary Green Professor Adrian Rees Emeritus Professor Doug Turnbull Professor Tim Griffiths et al.	The spectrum of hearing loss due to mitochondrial DNA defects	2000
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Transmission and segregation of the human mitochondrial genome	2000
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Transmission of the human mitochondrial genome	2000
Kim Clark Professor Robert Taylor Dr Margaret Johnson Professor Patrick Chinnery Professor Zofia Chrzanowska-Lightowlers et al.	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	1999
Professor Robert Taylor Dr Margaret Johnson Professor Patrick Chinnery Professor Zofia Chrzanowska-Lightowlers Professor Michael Hanna et al.	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	1999
Professor Robert Taylor Dr Richard Andrews Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Analysis of Mitochondrial DNA mutations	1999
Professor Patrick Chinnery Dr Richard Andrews Emeritus Professor Doug Turnbull	Clinical mitochondrial genetics	1999
Dr Richard Andrews Philip Griffiths Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome	1999
Dr Richard Andrews Philip Griffiths Dr Margaret Johnson Emeritus Professor Doug Turnbull	Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina	1999
Dr Stephen Lynn Anne Hattersley Emeritus Professor Doug Turnbull Professor Mark Walker	Intermediate GAA repeat expansions of the X25/frataxin gene in type 2 diabetes	1999
Emeritus Professor Doug Turnbull	Methylene blue and fatal encephalopathy from ackee fruit poisoning	1999
Dr Richard Andrews Philip Griffiths Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Mitochondrial DNA disease masquerading as age-related macular degeneration	1999
Dr Gillian Borthwick Dr Margaret Johnson Professor Pamela Shaw Emeritus Professor Doug Turnbull	Mitochondrial enzyme activity in amyotrophic lateral sclerosis: Implications for the role of mitochondria in neuronal cell death	1999
Professor Patrick Chinnery Professor Mark Walker Professor Robert Taylor Professor Robert Lightowlers Professor Laurence Bindoff et al.	Nonrandom tissue distribution of mutant mtDNA	1999
Professor Patrick Chinnery Professor Mark Walker Professor Robert Taylor Professor Robert Lightowlers Professor Laurence Bindoff et al.	Non-random tissue distribution of mutant mtDNA	1999
Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Pathogenic mitochondrial DNA mutations and human reproduction	1999
Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Peptide nucleic acid delivery to human mitochondria	1999
Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Peptide nucleic acid delivery to human mitochondria	1999
Dr Richard Andrews Professor Patrick Chinnery Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Reanalysis and revision of the cambridge reference sequence for human mitochondrial DNA [5]	1999
Professor Robert Taylor Professor Patrick Chinnery Emeritus Professor David Bates Dr Margaret Jackson Dr Margaret Johnson et al.	A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: Studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis	1998
Professor Patrick Chinnery Professor Robert Lightowlers Emeritus Professor Doug Turnbull	MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring	1998
Professor Robert Lightowlers Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Mammalian mitochondrial genetics: Heredity, heteroplasmy and disease	1997
Dr Elizabeth Brierley Dr Margaret Johnson Professor Gary Ford Emeritus Professor Oliver James Emeritus Professor Doug Turnbull et al.	Mitochondrial function in muscle from elderly athletes	1997
Professor Patrick Chinnery Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes	1997
Dr Andrew Morris Emeritus Professor Robert Perry Dr Paul Griffiths Professor Alastair Burt Emeritus Professor Doug Turnbull et al.	Respiratory chain dysfunction in progressive neuronal degeneration of childhood with liver disease	1996
Professor Zofia Chrzanowska-Lightowlers Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Gene Therapy for Mitochondrial DNA Defects - is it possible?	1995
Professor Zofia Chrzanowska-Lightowlers Emeritus Professor Doug Turnbull Professor Robert Lightowlers	A microtitre plate assay for cytochrome c oxidase in permeabilized whole cells.	1993
Professor Zofia Chrzanowska-Lightowlers Emeritus Professor Doug Turnbull Professor Robert Lightowlers	An antisense oligodeoxynucleotide approach to investigate the function of the nuclear-encoded subunits of human cytochrome c oxidase	1993