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Browsing publications by Emeritus Professor Doug Turnbull.

Newcastle AuthorsTitleYearFull text
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 disorder2022
Dr Ashwin Sachdeva
Dr Christopher Carey
Dr Amy Vincent
Dr Laura Greaves
Professor Rakesh Heer
et al.
Automated quantitative high‑throughput multiplex immunofuorescence pipeline to evaluate OXPHOS defects in formalin‑fxed human prostate tissue2022
Dan Hipps
Dr Philip Dobson
Charlotte Warren
Dr David McDonald
Andrew Fuller
et al.
Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry2022
Dr Yi Ng
Dr Nichola Lax
Dr Alasdair Blain
Dr Daniel Erskine
Dr Mark Baker
et al.
Forecasting stroke-like episodes and outcomes in mitochondrial disease2022
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 proliferation2022
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 Progression2022
Dr David Houghton
Dr Yi Ng
Dr Renae Stefanetti
Paula Hynd
Dr 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 disease2022
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 report2021
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 colon2021
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 disease2021
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 disease2021
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 promise2021
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 transmission2021
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 defects2021
Dr Pavandeep Rai
Dr Satomi Miwa
Emeritus Professor Doug Turnbull
The Role of Mitochondria-Linked Fatty-Acid Uptake-Driven Adipogenesis in Graves Orbitopathy2021
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 tumorigenesis2020
Dr Amy Vincent
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Assessment of mitochondrial respiratory chain enzymes in cells and tissues2020
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 bodies2020
Charlotte Warren
Dr David McDonald
Professor David Deehan
Professor Robert Taylor
Dr Andrew Filby
et al.
Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry2020
Dr Amy Vincent
Dr Rolando Berlinguer Palmini
Emeritus Professor Doug Turnbull
Distinctive Features of Orbital Adipose Tissue (OAT) in Graves’ Orbitopathy2020
Carmen Fiuza Luces
Emeritus Professor Doug Turnbull
Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse2020
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 tissues2020
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 controls2020
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 disease2020
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 Future2020
Dr Julie Murphy
Emeritus Professor Doug Turnbull
Mitochondrial donation - hope for families with mitochondrial DNA disease2020
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 loss2020
Dr Amy Vincent
Emeritus Professor Doug Turnbull
Dr Gavin Hudson
Mitochondrial Isolation: When size matters2020
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 disease2020
Dr Alison Yarnall
Dr Antoneta Granic
Sammy Waite
Dr Kieren Hollingsworth
Charlotte Warren
et al.
The feasibility of muscle mitochondrial respiratory chain phenotyping across the cognitive spectrum in Parkinson’s disease2020
Dr Conor Lawless
Dr Laura Greaves
Dr Amy Reeve
Emeritus Professor Doug Turnbull
Dr Amy Vincent
et al.
The rise and rise of mitochondrial DNA mutations2020
Emeritus Professor Doug Turnbull
Therapeutic Manipulation of mtDNA Heteroplasmy: A Shifting Perspective2020
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 aging2020
Dr Yi Ng
Emeritus Professor Doug Turnbull
When to think about mitochondrial disease2020
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 caution2019
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 ability2019
Dr Fiona Malcomson
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-up2019
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 study2019
Stella Breininger
Dr Fiona Malcomson
Dr Sonny Afshar
Emeritus Professor Doug Turnbull
Dr Laura Greaves
et al.
Effects of obesity and weight loss on mitochondrial structure and function and implications for colorectal cancer risk2019
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 disease2019
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 study2019
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 study2019
Dr Amy Vincent
Dr Kathryn White
Tracey Davey
Jonathan Phillips
Dr Conor Lawless
et al.
Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network2019
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 dysfunction2019
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 level2019
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 Load2018
Dr Dave Houghton
Dr Christopher Stewart
Dr Craig Stamp
Professor Anil Wipat
Professor Mike Trenell
et al.
Age-related mitochondrial dysfunction influences the mouse intestinal microbiome composition2018
Syeda Ahmed
Dr Oliver Russell
Emeritus Professor Doug Turnbull
Dr Amy Vincent
Diagnosis and Treatment of Mitochondrial Myopathies2018
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 women2018
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 populations2018
Professor Grainne Gorman
Professor Bobby McFarland
Dr Jane Stewart
Catherine Feeney
Emeritus Professor Doug Turnbull
et al.
Mitochondrial donation: from test tube to clinic2018
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 women2018
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 disease2018
Dr Mariana Rocha
Hannah Rosa
Dr John Grady
Dr Langping He
Jane Newman
et al.
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions2018
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 factors2018
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 Crypts2018
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 vivo2018
Professor Mary Herbert
Emeritus Professor Doug Turnbull
Progress in mitochondrial replacement therapies2018
Tianhong Su
Emeritus Professor Doug Turnbull
Dr Laura Greaves
Roles of mitochondrial DNA mutations in stem cell ageing2018
Dr Julie Murphy
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Professor Grainne Gorman
Professor Bobby McFarland
et al.
Scientific and Ethical Issues in Mitochondrial Donation2018
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 study2018
Dr Amy Vincent
Hannah Rosa
Kamil Pabis
Dr Conor Lawless
Dr Chun Chen
et al.
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle2018
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 disease2018
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 mtDNA2018
Dr Nichola Lax
Professor Grainne Gorman
Emeritus Professor Doug Turnbull
Central nervous system involvement in mitochondrial disease2017
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 myopathy2017
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 dysfunction2017
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 cells2017
Dr Dave Houghton
Dr Christopher Stewart
Dr Craig Stamp
Professor Anil Wipat
Professor Mike Trenell
et al.
Impact of Age-Related Mitochondrial Dysfunction and Exercise on Intestinal Microbiota Composition2017
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, Italy2017
Professor Mary Herbert
Emeritus Professor Doug Turnbull
Mitochondrial donation - Clearing the final regulatory hurdle in the United Kingdom2017
Dr Amy Vincent
Emeritus Professor Doug Turnbull
Mitochondrial Nanotunnels2017
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 performance2017
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 Prostates2017
Dr Yi Ng
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia2017
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 Ophthalmoplegia2017
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 patients2017
Dr Charlotte Alston
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Recent Advances in Mitochondrial Disease2017
Dr Charlotte Alston
Dr Mariana Rocha
Dr Nichola Lax
Emeritus Professor Doug Turnbull
Professor Robert Taylor
et al.
The genetics and pathology of mitochondrial disease2017
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 deficiency2017
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 hallucinations2016
Dr Oliver Russell
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia2016
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency2016
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 Disease2016
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 mechanisms2016
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 myositis2016
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 disease2016
Ashwin Sachdeva
Dr Amira El-Sherif
Emeritus Professor Doug Turnbull
Dr 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 carcinogenesis2016
Dr Amy Vincent
Hannah Rosa
Dr Charlotte Alston
Dr John Grady
Dr Karolina Rygiel
et al.
Dysferlin mutations and mitochondrial dysfunction2016
Dr Martin Picard
Dr Amy Vincent
Emeritus Professor Doug Turnbull
Expanding Our Understanding of mtDNA Deletions2016
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 disease2016
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 system2016
Emeritus Professor Doug Turnbull
Genetic and biochemical intricacy shapes mitochondrial cytopathies2016
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 disease2016
Alexia Chrysostomou
Emeritus Professor Doug Turnbull
Mitochondria, the synapse, and neurodegeneration2016
Dr Yi Ng
Emeritus Professor Doug Turnbull
Mitochondrial disease: genetics and management2016
Professor Grainne Gorman
Professor Patrick Chinnery
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
Mitochondrial diseases2016
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 Neurons2016
Dr Amy Vincent
Dr John Grady
Dr Mariana Rocha
Dr Charlotte Alston
Dr Karolina Rygiel
et al.
Mitochondrial dysfunction in myofibrillar myopathy2016
Dr Amy Reeve
Eve Simcox
Emeritus Professor Doug Turnbull
Mitochondrial dysfunction in neurodegenerative disorders: Second edition2016
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 age2016
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 biopsy2016
Dr Amy Reeve
Eve Simcox
Emeritus Professor Doug Turnbull
Preface2016
Professor Roger Whittaker
Professor Grainne Gorman
Dr Yi Ng
Emeritus Professor Doug Turnbull
Prevalence and Outcome of Mitochondrial Epilepsy Reply2016
Dr Yi Ng
Catherine Feeney
Dr Andrew Schaefer
Paula Hynd
Dr Charlotte Alston
et al.
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination2016
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 Donation2016
Dr Mika Martikainen
Professor David Burn
Emeritus Professor Doug Turnbull
Spectrum of Movement Disorders in Mitochondrial Disorders Reply2016
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 adults2016
Dr Karolina Rygiel
Dr Martin Picard
Emeritus Professor Doug Turnbull
The ageing neuromuscular system and sarcopenia - A mitochondrial perspective2016
Dr Amy Vincent
Dr Yi Ng
Dr Kathryn White
Tracey Davey
Gavin Falkous
et al.
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy2016
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 disease2016
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 -/- mice2016
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 centre2015
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 diagnosis2015
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” mutation2015
Dr Amy Reeve
Dr Eve Cosgrave
Emeritus Professor Doug Turnbull
Aggregated α-synuclein and complex I deficiency: exploration of their relationship in differentiated neurons2015
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 Disease2015
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 282015
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 Study2015
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
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 disease2015
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
Dr Laura Greaves
Dr Langping He
et al.
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression2015
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 disease2015
Pavandeep Rai
Dr Oliver Russell
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
Potential compounds for the treatment of mitochondrial disease2015
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 disease2015
Dr Yi Ng
Professor Grainne Gorman
Emeritus Professor Doug Turnbull
Mika Martikainen
The diagnosis of posterior reversible encephalopathy syndrome2015
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 disease2015
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 disease2015
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 cells2015
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 disease2014
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 Muscle2014
Dr Amy Reeve
Dr Eve Cosgrave
Emeritus Professor Doug Turnbull
Ageing and Parkinson's disease: Why is advancing age the biggest risk factor?2014
Dr 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 Ageing2014
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 consequences2014
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 deletions2014
Georgia Campbell
Kim Krishnan
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle2014
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" mutation2014
Dr Stuart Williamson
Laura Wilson
Graeme Williamson
Dr Laura Greaves
Dr Helen Tuppen
et al.
Finding a niche. The location of human prostate stem cells2014
Holly Baines
Emeritus Professor Doug Turnbull
Dr 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 myositis2014
Dr Oliver Russell
Emeritus Professor Doug Turnbull
Mitochondrial DNA disease - molecular insights and potential routes to a cure2014
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 maintenance2014
Dr Charlotte Alston
Emeritus Professor Doug Turnbull
Dr Jane Stewart
Professor Bobby McFarland
Professor Robert Taylor
et al.
PGD to prevent mitochondrial disease: embryological aspects2014
Dr Lyndsey Butterworth
Dr Laura Irving
Dr Charlotte Alston
Dr Emma Watson
Professor Bobby McFarland
et al.
Preimplantation genetic diagnosis for mitochondrial DNA disease2014
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 tissue2014
Dr Karolina Rygiel
Dr John Grady
Emeritus Professor Doug Turnbull
Respiratory chain deficiency in aged spinal motor neurons2014
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 humans2014
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 Mutation2014
Professor Patrick Chinnery
Dr Lyndsey Butterworth
Dr Jim Stewart
Professor Mary Herbert
Emeritus Professor Doug Turnbull
et al.
The Challenges of Mitochondrial Replacement2014
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 mutations2014
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 Deficiencies2014
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 Mutation2013
Professor Grainne Gorman
Dr Robert Pitceathly
Emeritus Professor Doug Turnbull
Professor Robert Taylor
RRM2B-Related Mitochondrial Disease2013
Monica Piatek
Dr Kathryn White
Dr Sasha Gartside
Emeritus Professor Doug Turnbull
Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle2013
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 measures2013
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 carriers2013
Dr Martin Picard
Emeritus Professor Doug Turnbull
Contractile In/Activity Influence Mitochondrial Morphology and Membrane Interactions in Mouse Skeletal Muscle2013
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 disease2013
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 Study2013
Dr Andrew Schaefer
Professor Mark Walker
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Endocrine disorders in mitochondrial disease2013
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 Disease2013
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 Ophthalmoplegia2013
Professor Roger Whittaker
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease2013
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 scale2013
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 Deletions2013
Martin Picard
Emeritus Professor Doug Turnbull
Linking the Metabolic State and Mitochondrial DNA in Chronic Disease, Health, and Aging2013
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 Disease2013
Graham Campbell
Dr Amy Reeve
Dr Iryna Ziabreva
Dr Tuomo Polvikoski
Professor Robert Taylor
et al.
Mitochondrial DNA deletions and depletion within paraspinal muscles2013
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 therapies2013
Martin Picard
Dr Kathryn White
Emeritus Professor Doug Turnbull
Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study2013
Dr Eve Cosgrave
Dr Amy Reeve
Emeritus Professor Doug Turnbull
Monitoring mitochondrial dynamics and complex I dysfunction in neurons: implications for Parkinson's disease2013
Helen Bogle
Dr Nichola Lax
Dr Evelyn Jaros
Professor Bobby McFarland
Professor Robert Taylor
et al.
Neuropathological changes in Alpers' syndrome2013
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 standards2013
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 sclerosis2013
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 Disease2013
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 Disease2013
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 Neurons2013
Dr John Yarham
Dr Charlotte Alston
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
Professor Robert Taylor
et al.
The m.3291T > C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease2013
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 Utilisation2013
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 management2013
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 subunits2012
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 characteristics2012
Dr Matthew Bates
Dr John Bourke
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management2012
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 load2012
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 Study2012
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 disease2012
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 disease2012
Julia Tonge
Professor Volker Straub
Professor Hanns Lochmuller
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
et al.
Clinical research activity in Newcastle MRC centre2012
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 sclerosis2012
Dr 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 Mutations2012
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 carriers2012
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 carriers2012
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 myopathy2012
Dr Karolina Rygiel
Emeritus Professor Doug Turnbull
Denervation Causes Fiber Atrophy and Myosin Heavy Chain Co-Expression in Senescent Skeletal Muscle2012
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 Humans2012
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 Humans2012
Dr Patrick Yu Wai Man
Professor Grainne Gorman
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia2012
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 maintenance2012
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 carriers2012
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 disease2012
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 disease2012
Dr John Blackwood
Dr 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 myopathy2012
Dr Nichola Lax
Graham Campbell
Dr Amy Reeve
Jessica Zambonin
Professor Robert Taylor
et al.
Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome2012
Martin Picard
Dr Karolina Rygiel
Emeritus Professor Doug Turnbull
Metabolic Oversupply and Mitochondrial Dysfunction as a Cause of Diaphragmatic Failure after Mechanical Ventilation2012
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 disease2012
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 symptoms2012
Graham Campbell
Emeritus Professor Doug Turnbull
Dr Don Mahad
Mitochondrial changes within axons in multiple sclerosis: an update2012
Dr Laura Greaves
Dr Amy Reeve
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial DNA and disease2012
Kim Krishnan
Heidi De Gruyter
Dr Evelyn Jaros
Emeritus Professor Doug Turnbull
Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease2012
Graham Campbell
Kim Krishnan
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial DNA deletions do not have a replicative advantage in human muscle2012
Dr Karolina Rygiel
Emeritus Professor Doug Turnbull
Mitochondrial Dysfunction and Lipid Accumulation in the Human Diaphragm during Mechanical Ventilation2012
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 disease2012
Heather Moore
Professor Mike Trenell
Emeritus Professor Doug Turnbull
Professor Grainne Gorman
Processing speed is impaired in patients with Mitochondrial Disease2012
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 Neurons2012
Dr Julie Murphy
Jane Newman
Thiloka Ratnaike
Gavin Falkous
Dr Charlotte Alston
et al.
Resistance training in patients with mitochondrial myopathy2012
Dr Nichola Lax
Professor Roger Whittaker
Philippa Hepplewhite
Dr Amy Reeve
Dr Evelyn Jaros
et al.
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations2012
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 splicing2012
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 utilisation2012
Dr Matthias Elstner
Emeritus Professor Doug Turnbull
Transcriptome analysis in mitochondrial disorders2012
Dr Gerald Pfeffer
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Treatment for mitochondrial disorders2012
Vivienne Neeve
Professor Hanns Lochmuller
Dr 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
Dr 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 cells2011
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 pyrosequencing2011
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 mutation2011
Dr 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 humans2011
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 muscle2011
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 degeneration2011
Dr Julie Murphy
Ersong Shang
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Exercise training in patients with mitochondrial myopathy: the analysis of COX-intermediate fibres2011
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 death2011
Professor Grainne Gorman
Dr Joanna Elson
Dr Thomas Ploetz
Emeritus Professor Doug Turnbull
Professor Mike Trenell
et al.
Habitual Physical Activity in Mitochondrial Disease2011
Emeritus Professor Doug Turnbull
Professor Roger Whittaker
Hyperventilation during the EEG is safe in mitochondrial disease2011
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 interneurons2011
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 sclerosis2011
Dr Lyndsey Butterworth
Professor Mary Herbert
Emeritus Professor Doug Turnbull
Manipulation of human abnormally fertilized pronuclear stage zygotes following vitrification2011
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 families2011
Dr Karolina Rygiel
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial abnormalities in inclusion body myositis2011
Dr Iryna Ziabreva
Jessica Zambonin
Kim Krishnan
Emeritus Professor Doug Turnbull
Dr Don Mahad
et al.
Mitochondrial defects within choroid plexus in multiple sclerosis2011
Rebecca Say
Professor Roger Whittaker
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.
Mitochondrial disease in pregnancy: a systematic review2011
Graham Campbell
Dr Iryna Ziabreva
Dr Amy Reeve
Kim Krishnan
Emeritus Professor Doug Turnbull
et al.
Mitochondrial DNA Deletions and Neurodegeneration in Multiple Sclerosis2011
Dr Lyndsey Butterworth
Dr Joanna Elson
Dr Helen Tuppen
Dr Lisa Ferguson
Gareth Greggains
et al.
Mitochondrial DNA disease: new options for prevention2011
Sally Spendiff
Professor Rita Horvath
Professor Hanns Lochmuller
Dr Mojgan Reza
Dr Julie Murphy
et al.
Mitochondrial DNA mutations in satellite cells2011
Dr Iryna Ziabreva
Jessica Zambonin
Emeritus Professor Doug Turnbull
Dr Don Mahad
Mitochondrial dysfunction and remyelination failure2011
Dr Nichola Lax
Emeritus Professor Doug Turnbull
Dr Amy Reeve
Mitochondrial mutations: newly discovered players in neuronal degeneration2011
Dr Victoria Nesbitt
Professor Roger Whittaker
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
Professor Robert Taylor
et al.
mtDNA disease for the neurologist2011
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 deletions2011
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 treatment2011
Emeritus Professor Doug Turnbull
Preventing transmission of mitochondrial disease2011
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 mutations2011
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 mutations2011
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 deletions2011
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 UK2011
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 gene2011
Thiloka Ratnaike
Kim Krishnan
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Why does mitochondrial disease progress? From molecular genetics to patient phenotype2011
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
A neurological perspective on mitochondrial disease2010
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 diagnosis2010
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 muscle2010
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 crypts2010
Dr John Yarham
Dr Joanna Elson
Dr Charlotte Alston
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
et al.
Assigning pathogenicity to mitochondrial tRNA gene mutations2010
Dr 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 crypts2010
Dr 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 crypts2010
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 Number2010
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 cells2010
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 Syndrome2010
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 mutation2010
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 mutation2010
Dr Tora Smulders-Srinivasan
Dr Denise Kirby
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations2010
Emeritus Professor Doug Turnbull
Mitochondrial DNA and genetic disease2010
Dr 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 CPEO2010
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 neurons2010
Dr Helen Tuppen
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Mitochondrial DNA mutations and human disease2010
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- Rigidity2010
Dr Robert Pitceathly
Dr Victoria Nesbitt
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
MRC mitochondrial cohort study: development of a UK database2010
Dr Patrick Yu Wai Man
Philip Griffiths
Professor Grainne Gorman
Professor Roger Whittaker
Dr Mark Baker
et al.
Multi-system neurological disease is common in patients with OPA1 mutations2010
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 disease2010
Emeritus Professor Doug Turnbull
Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'2010
Dr Matthias Elstner
Emeritus Professor Doug Turnbull
Reply2010
Dr Patrick Yu Wai Man
Dr Gillian Borthwick
Dr Langping He
Geoffrey Taylor
Dr Laura Greaves
et al.
Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles2010
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 adPEO2010
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 cells2010
Dr Nichola Lax
Dr Daria Diodato
Emeritus Professor Doug Turnbull
The mitochondrial brain: From mitochondrial genome to neurodegeneration2010
Dr Matthias Elstner
Emeritus Professor Doug Turnbull
The PDXK rs2010795 Variant Is Not Associated with Parkinson Disease in Italy [reply]2010
Vivienne Neeve
Dr 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 differentiation2009
Professor Roger Whittaker
Emeritus Professor Doug Turnbull
A diagnostic tattoo2009
Dr Nimantha De Alwis
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Dr Laura Greaves
Professor Patrick Chinnery
et al.
A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues2009
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 Features2009
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 deletions2009
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 mutations2009
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 patients2009
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
Batteries not included: diagnosis and management of mitochondrial disease2009
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Bilateral hypertrophic olivary degeneration on MRI in two patients with POLG1 mutations2009
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 disease2009
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 cells2009
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 Fission2009
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 model2009
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Dr Laura Greaves
Professor Patrick Chinnery
Locating the Stem Cell Niche and Tracing Hepatocyte Lineages in Human Liver2009
Dr Don Mahad
Dr Iryna Ziabreva
Graham Campbell
Dr Nichola Lax
Dr Kathryn White
et al.
Mitochondrial changes within axons in multiple sclerosis2009
Dr Laura Greaves
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations and ageing2009
Dr 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 genomes2009
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 segregation2009
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 Atrophy2009
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 Mutation2009
Dr Laura Greaves
Nina Beadle
Geoffrey Taylor
Dr Daniel Commane
Professor John Mathers
et al.
Quantification of mitochondrial DNA mutation load2009
Emeritus Professor Doug Turnbull
Searching for the needle in the Haystacks2009
Dr Matthias Elstner
Dr Christopher Morris
Dr 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 gene2009
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 neurons2009
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 Mutation2009
Joanna Stewart
Dr Gavin Hudson
Dr Patrick Yu Wai Man
Professor Rita Horvath
Philip Griffiths
et al.
OPA1 in multiple mitochondrial DNA deletion disorders2008
Professor Robert Taylor
Dr 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 ophthalmoplegia2008
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 humans2008
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 islets2008
Emerita Professor Helen Rodgers
Emeritus Professor Doug Turnbull
Professor Niall Cartlidge
An extended activity of daily living scale for stroke in young adults2008
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 mutation2008
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 deletions2008
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 dysferlinopathy2008
Professor Mike Trenell
Emeritus Professor Doug Turnbull
G.P.3.15: Waking the sleeping giant; habitual physical inactivity in people with mitochondrial disease2008
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 mutation2008
Dr Mark Baker
Dr John Hanley
Emeritus Professor Doug Turnbull
Andrew Loughney
Hyperemesis gravidarum and first trimester sagittal sinus thrombosis2008
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility.2008
Dr 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 Cells2008
Dr Don Mahad
Dr Iryna Ziabreva
Emeritus Professor Doug Turnbull
Mitochondrial defects in acute multiple sclerosis lesions2008
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Patrick Chinnery
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.
Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply2008
Dr Amy Reeve
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations in desease, aging and neurodegeneration2008
Dr Amy Reeve
Emeritus Professor Doug Turnbull
Mitochondrial DNA Mutations in Disease, Aging, and Neurodegeneration2008
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 sclerosis2008
Dr 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 maintenance2008
Dr 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 maintenance2008
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 Neurons2008
Adillah Binti Yusof
Dr Julie Murphy
Dr Gavin Hudson
Emeritus Professor Doug Turnbull
Professor Robert Taylor
et al.
Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy2008
Joanna Stewart
Dr Angela Pyle
Emeritus Professor Mike Sir Michael Rawlins
Dr 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 mutation2008
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 mutation2008
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Roger Whittaker
Professor Robert Taylor
Professor Patrick Chinnery
et al.
Prevalence of mitochondrial DNA disease in adults2008
Dr Andrew Schaefer
Professor Roger Whittaker
Professor Bobby McFarland
Professor Patrick Chinnery
Professor Robert Taylor
et al.
Reply2008
Dr Julie Murphy
Dr Andrew Schaefer
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Resistance training in patients with single, large-scale deletions of mitochondrial DNA2008
Dr Don Mahad
Emeritus Professor Doug Turnbull
Review: Mitochondria and disease progression in multiple sclerosis2008
Dr Vanessa Hogan
Dr Kathleen White
Emeritus Professor Doug Turnbull
Dr Philip Nichols
Role of mitochondria in a mouse model of multiple sclerosis2008
Emerita Professor Helen Rodgers
Emeritus Professor Doug Turnbull
Stroke in the young: the place of arteriopathies2008
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 myopathy2008
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 perspective2008
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 outcome2008
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 mutations2007
Professor Robert Taylor
Emeritus Professor Doug Turnbull
A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells2007
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 FEATURES2007
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 demyelination2007
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 MRI2007
Dr Vanessa Hogan
Dr Kathleen White
Emeritus Professor Doug Turnbull
Dr Philip Nichols
Axonal adaptation to demyelination in the Plp mouse2007
Dr Denise Kirby
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Biochemical Assays of Respiratory Chain Complex Activity2007
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 cells2007
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
Discussion2007
Emeritus Professor Doug Turnbull
Discussion2007
Emeritus Professor Doug Turnbull
Discussion2007
Emeritus Professor Doug Turnbull
Discussion2007
Emeritus Professor Doug Turnbull
Discussion2007
Emeritus Professor Doug Turnbull
Discussion2007
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 deficiency2007
Dr Julie Murphy
Dr Lyndsey Butterworth
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Experimental Strategies Towards Treating Mitochondrial DNA Disorders2007
Dr Andrew Morris
Rachel Appleton
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy2007
Professor Bobby McFarland
Professor Patrick Chinnery
Dr Andrew Schaefer
Dr Andrew Morris
Sharon Foster
et al.
Homoplasmy, heteroplasmy, and mitochondrial dystonia2007
Emeritus Professor Doug Turnbull
Investigation and management of mitochondrial disorders2007
Professor Robert Taylor
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Investigation of metabolic myopathies2007
Geoffrey Taylor
Professor Pamela Shaw
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Investigation of the mitochondrial genome in patients with atypical motor neuron disease2007
Emeritus Professor Doug Turnbull
Professor Robert Taylor
MELAS associated with mutations in the POLG1 gene2007
Dr Don Mahad
Dr Iryna Ziabreva
Emeritus Professor Doug Turnbull
Mitochondria and primary oligodendrocyte dysfunction in multiple sclerosis2007
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial disease - Its impact, etiology, and pathology2007
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial Disease-Its Impact, Etiology, and Pathology2007
Dr Laura Greaves
Dr Amy Reeve
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations and aging2007
Dr Laura Greaves
Dr Amy Reeve
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations and aging2007
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial DNA Transcription: Regulating the Power Supply2007
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 sclerosis2007
Dr 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 Parkinsonism2007
Dr 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 parkinsonism2007
Dr 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 disease2007
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Relative rates of evolution in the coding and control regions of African mtDNAs2007
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 mutation2007
Dr Matthias Elstner
Dr Christopher Morris
Emeritus Professor Doug Turnbull
Targeted gene expression analysis in Parkinson's disease and ageing2007
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach2007
Dr Laura Greaves
Dr Amy Reeve
Emeritus Professor Doug Turnbull
The ageing mitochondrial genome2007
Professor Patrick Chinnery
Dr 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 adults2006
Emeritus Professor Doug Turnbull
Professor Robert Taylor
A novel mitochondrial DNA tRNA gene mutation in a family with mitochondrial encephalopathy2006
Dr Andrew Schaefer
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
A scale to monitor progression and treatment of mitochondrial disease in children2006
Professor Robert Taylor
Emeritus Professor Doug Turnbull
An unusual case of congenital muscular dystrophy with mitochondrial structural abnormalities2006
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Philip Griffiths
Assessment of visual function in chronic progressive external ophthalmoplegia2006
Dr Laura Greaves
Emeritus Professor Doug Turnbull
Clonal expansion in the human gut - Mitochondrial DNA mutations show us the way2006
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 cells2006
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 deletions2006
Dr Julie Murphy
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Fatal mitochondrial DNA depletion myopathy due to novel mutations in the TK2 gene2006
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 disease2006
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 mouse2006
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 treatment2006
Dr Ramesh Arasaradnam
Dr 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
Dr 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 fission2006
Professor Caroline Relton
Gordon Taylor
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations in individuals occupationally exposed to ionizing radiation2006
Emeritus Professor Doug Turnbull
Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders2006
Dr Samir Gupta
Dr Jonathan Wyllie
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period2006
Dr Laura Greaves
Emeritus Professor Doug Turnbull
Modelling of the expansion of normal human colonic crypts2006
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 involvement2006
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Monoclonal conversion in human gastric glands: Insights into stem cell and clonal architecture2006
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Monoclonal conversion of human gastric glands provides insights into stem cell and clonal architecture2006
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 tRNAlle mutation2006
Dr Steve Durham
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia2006
Professor Rita Horvath
Dr Gavin Hudson
Professor Hanns Lochmuller
Professor Bobby McFarland
Dr Vankateswara Ramesh
et al.
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene2006
Dr 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 deletions2006
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 variants2006
Dr Steve Durham
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Progressive depletion of mtDNA in mitochondrial myopathy2006
Dr Helen Swalwell
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Pure myopathy associated with a novel mitochondrial tRNA gene mutation2006
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 teenager2006
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 acidosis2006
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders2006
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 glaucoma2006
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 future2006
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Treatment for mitochondrial disorders2006
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 yeast2005
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 model2005
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 model2005
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 model2005
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 keratinocytes2005
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations2005
Dr Laura Greaves
Emeritus Professor Doug Turnbull
Clusters of phenotypically related human colonic crypts develop through crypt fission: Implications for colorectal carcinogenesis2005
Dr Laura Greaves
Emeritus Professor Doug Turnbull
Clusters of phenotypically-related human colonic crypts develop through crypt fission: Implications for colorectal carcinogenesis2005
Sharon Foster
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree2005
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 myopathy2005
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 keratinocytes2005
Emeritus Professor Doug Turnbull
Professor Robert Taylor
LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation2005
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 MS2005
Professor Mark Walker
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial diabetes2005
Emeritus Professor Doug Turnbull
Mitochondrial disorders2005
Dr Christopher Morris
Emeritus Professor Doug Turnbull
Mitochondrial DNA deletions in dementia with Lewy bodies - A single neuron study2005
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations in human disease2005
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 Sclerosis2005
Emeritus Professor Doug Turnbull
Monoclonal conversion in human gastric glands gives insights into stem cell and clonal architecture2005
Dr Joanna Elson
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
mtDNA mutations and common neurodegenerative disorders2005
Emeritus Professor Doug Turnbull
Nuclear genes and mitochondrial translation: A new class of genetic disease2005
Dr Terence Smith
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
Philip Griffiths
Ocular motility findings in chronic progressive external ophthalmoplegia2005
Dr Andrew Schaefer
Philip Griffiths
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis2005
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 mitochondria2005
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Timelines in mitochondrial DNA disease: Genotypes, phenotypes, and disease progression2005
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 myopathy2005
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-tRNAVal2004
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 syndrome2004
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 rhabdomyolysis2004
Dr Joanna Elson
Emeritus Professor Doug Turnbull
African haplogroup L mtDNA sequences show violations of clock-like evolution2004
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 enough2004
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 enough2004
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 gene2004
Emeritus Professor Doug Turnbull
Clinical presentation and disease course of mitochondrial disease in adults2004
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection2004
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 Deficiency2004
Dr Martin Barron
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Endurance training in patients with single, large-scale mtDNA deletions: molecular genetic studies2004
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 Mutation2004
Dr Debbie Pye
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease2004
Dr Martin Barron
Philip Griffiths
Emeritus Professor Doug Turnbull
Mitochondria and the eye: ageing and disease2004
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 implications2004
Professor Robert Taylor
Professor Patrick Chinnery
Professor Robert Lightowlers
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
et al.
Mitochondrial DNA deletion in "identical" twin brothers2004
Dr Langping He
Professor Robert Taylor
Professor Patrick Chinnery
Professor Robert Lightowlers
Dr Andrew Schaefer
et al.
Mitochondrial DNA deletion in identical twins2004
Dr Patrick Yu Wai Man
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees2004
Professor Robert Taylor
Dr Langping He
Dr Laura Greaves
Geoffrey Taylor
Dr Martin Barron
et al.
Mitochondrial DNA mutations in human colonic crypt stem cells2004
Dr Laura Greaves
Dr Martin Barron
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations in human colonic crypt stem cells - implications for function2004
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 MELAS2004
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
Neuropathological Aspects of Mitochondrial DNA Disease2004
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 mutation2004
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
No evidence of an association between the mtDNA 16184-93 polyC tract and late onset dementia2004
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 dementia2004
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 cells2004
Dr Andrew Schaefer
Dr Martin Barron
Philip Griffiths
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.
Ophthalmoplegia: When all the tests are negative2004
Professor Bobby McFarland
Professor Robert Taylor
Dr Joanna Elson
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
et al.
Proving pathogenicity: When evolution is not enough2004
Professor Patrick Chinnery
Professor Hanns Lochmuller
Professor Rita Horvath
Professor Robert Taylor
Professor John Matthews
et al.
Risk of developing a mitochondrial DNA deletion disorder2004
Dr 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 mosaicism2004
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 tRNASer(UCN) gene2004
Dr Gunther Ross
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Strategies for treating disorders of the mitochondrial genome2004
Professor Robert Taylor
Dr Andrew Schaefer
Dr Martin Barron
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
et al.
The diagnosis of mitochondrial muscle disease2004
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 head2004
Professor Patrick Chinnery
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
The epidemiology of mitochondrial disorders2004
Dr Andrew Schaefer
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
The epidemiology of mitochondrial disorders - past, present and future2004
Joanne Betts
Dr Evelyn Jaros
Emeritus Professor Robert Perry
Dr Andrew Schaefer
Dr Martin Barron
et al.
The neuropathology of mitochondrial DNA disorders2004
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 disorder2004
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 Demyelination2003
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 cardiomyopathy2003
Emeritus Professor Doug Turnbull
Professor Robert Taylor
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia2003
Professor Zofia Chrzanowska-Lightowlers
Dr Morteza Pourfarzam
Professor Robert Taylor
Emeritus Professor Doug Turnbull
A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency2003
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 impaired2003
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 disease2003
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 disease2003
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 fibres2003
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 deficiency2003
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 mutation2003
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy2003
Dr Brian Bigger
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Gene therapy for mitochondrial DNA disorders2003
Professor Robert Taylor
Professor Patrick Chinnery
Geoffrey Taylor
Emeritus Professor Doug Turnbull
Genotypes from patients indicate no paternal mitochondrial DNA contribution2003
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 cells2003
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 paraparesis2003
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA2003
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 cells2003
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 cells2003
Dr Andrew Morris
Emeritus Professor Doug Turnbull
Dr Morteza Pourfarzam
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency2003
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 disorders2003
Philip Griffiths
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
Ocular motility findings in chronic progressive external ophthalmoplegia2003
Anna Lewall
Dr Liewi Luo
Professor Stephen Proctor
Dr Peter Middleton
Professor Robert Taylor
et al.
Somatic mitochondrial DNA mutations in adult-onset leukaemia2003
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-linking2003
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 England2003
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 rates2003
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 neuropathy2003
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 therapy2003
Professor Patrick Chinnery
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
A high frequency of mtDNA polymorphisms in HeLa cell sublines2002
Professor Patrick Chinnery
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
A high frequency of mtDNA polymorphisms in HeLa cell sublines2002
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 myopathy2002
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
A roundabout route to gene therapy2002
Emeritus Professor Doug Turnbull
Ablation of cellular prion protein expression affects mitochondrial numbers and morphology2002
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 muscle2002
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 genome2002
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 genome2002
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 PCR2002
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 metabolism2002
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 BCS1L2002
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 DNA2002
Professor Patrick Chinnery
Dr David Samuels
Emeritus Professor Doug Turnbull
Heteroplasmic mitochondrial DNA mutations: Determining the mechanism of inheritance2002
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 paraparesis2002
Dr Patrick Yu Wai Man
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Leber hereditary optic neuropathy2002
Professor Robert Taylor
Dr Andrew Morris
Dr Michael Hutchinson
Emeritus Professor Doug Turnbull
Leigh disease associated with a novel mitochondrial DNA ND5 mutation2002
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 sclerosis2002
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 epithelium2002
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 deafness2002
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 mutation2002
Dr Patrick Yu Wai Man
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy2002
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Novel therapies for mitochondrial myopathies2002
Emeritus Professor Doug Turnbull
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups2002
Professor Patrick Chinnery
Dr Ann Curtis
Emeritus Professor Doug Turnbull
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations2002
Philip Griffiths
Dr Richard Andrews
Emeritus Professor Doug Turnbull
The distribution of mitochondrial activity in relation to optic nerve structure2002
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 myopathy2002
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
The neurology of mitochondrial DNA disease2002
Dr David Cottrell
Dr Gillian Borthwick
Mary Johnson
Emeritus Professor Doug Turnbull
The role of cytochrome c oxidase deficient hippocampal neurones in Alzheimer's disease2002
Emeritus Professor Doug Turnbull
Professor Mark Walker
Variation in the calpain-10 gene affects blood glucose levels in the British population2002
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 deletions2001
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 disorders2001
Dr Joanna Elson
Dr Richard Andrews
Professor Patrick Chinnery
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
et al.
Analysis of European mtDNAs for recombination2001
Professor Robert Taylor
Dr Rajinder Singh-Kler
Christine Hayes
Emeritus Professor Doug Turnbull
Annals 25th anniversary2001
Professor Mark Birch-Machin
Emeritus Professor Doug Turnbull
Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues2001
Paul Counter
Dr Theresa Wardell
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect2001
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 defect2001
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Professor Robert Taylor
Current perspectives in the treatment of mitochondrial DNA diseases2001
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 disorders2001
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 templates2001
Dr Martin Barron
Dr Margaret Johnson
Dr Richard Andrews
Michael Clarke
Philip Griffiths
et al.
Mitochondrial abnormalities in ageing macular photoreceptors2001
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options2001
Dr David Cottrell
Dr Gillian Borthwick
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations in disease and ageing2001
Dr David Cottrell
Dr Gillian Borthwick
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations in disease and ageing2001
Dr David Cottrell
Dr Margaret Johnson
Emeritus Professor Doug Turnbull
Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD2001
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Mitochondrial Genetics2001
Professor Robert Taylor
Dr Theresa Wardell
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
Molecular basis for treatment of mitochondrial myopathies2001
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 brains2001
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 gene2001
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 oocytes2001
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 age2001
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 disease2001
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 mutations2001
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
The ischaemic lactate-ammonia test2001
Professor Robert Taylor
Emeritus Professor Doug Turnbull
The mitochondrial genome and mitochondrial muscle disorders2001
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 neuropathy2001
Professor Patrick Chinnery
Dr Margaret Johnson
Emeritus Professor Doug Turnbull
The natural history of mitochondrial DNA disease provides new insight into the pathogenetic mechanisms2001
Emeritus Professor Doug Turnbull
74th ENMC International Workshop: Mitochondrial Diseases 19-20 November 1999, Naarden, The Netherlands2000
Professor Robert Taylor
Dr Theresa Wardell
Dr Gillian Borthwick
Dr Elizabeth Brierley
Emeritus Professor Doug Turnbull
et al.
Analysis of Mitochondrial DNA Mutations2000
Professor Robert Taylor
Dr Richard Andrews
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Analysis of mitochondrial DNA mutations: point mutations2000
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 families2000
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 gene2000
Dr David Cottrell
Emeritus Professor Doug Turnbull
Mitochondria and ageing2000
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 bodies2000
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations in the pathogenesis of human disease2000
Professor Robert Taylor
Dr Theresa Wardell
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
Molecular basis for treatment of mitochondrial myopathies2000
Dr David Cottrell
Dr Margaret Johnson
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder2000
Professor Patrick Chinnery
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Peptide nucleic acid and delivery to human mitochondria2000
Dr David Cottrell
Dr Emma Watson
Dr Gillian Borthwick
Dr Margaret Johnson
Geoffrey Taylor
et al.
Role of mitochondrial DNA mutations in disease and aging2000
Professor Patrick Chinnery
Dr Margaret Johnson
Dr Theresa Wardell
Dr Rajinder Singh-Kler
Professor Robert Taylor
et al.
The epidemiology of pathogenic mitochondrial DNA mutations2000
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 defects2000
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Transmission and segregation of the human mitochondrial genome2000
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Transmission of the human mitochondrial genome2000
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 encephalomyopathy1999
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 Encephalomyopathy1999
Professor Robert Taylor
Dr Richard Andrews
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Analysis of Mitochondrial DNA mutations1999
Professor Patrick Chinnery
Dr Richard Andrews
Emeritus Professor Doug Turnbull
Clinical mitochondrial genetics1999
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 syndrome1999
Dr Richard Andrews
Philip Griffiths
Dr Margaret Johnson
Emeritus Professor Doug Turnbull
Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina1999
Dr Stephen Lynn
Anne Hattersley
Emeritus Professor Doug Turnbull
Professor Mark Walker
Intermediate GAA repeat expansions of the X25/frataxin gene in type 2 diabetes1999
Emeritus Professor Doug Turnbull
Methylene blue and fatal encephalopathy from ackee fruit poisoning1999
Dr Richard Andrews
Philip Griffiths
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Mitochondrial DNA disease masquerading as age-related macular degeneration1999
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 death1999
Professor Patrick Chinnery
Professor Mark Walker
Professor Robert Taylor
Professor Robert Lightowlers
Professor Laurence Bindoff
et al.
Nonrandom tissue distribution of mutant mtDNA1999
Professor Patrick Chinnery
Professor Mark Walker
Professor Robert Taylor
Professor Robert Lightowlers
Professor Laurence Bindoff
et al.
Non-random tissue distribution of mutant mtDNA1999
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Pathogenic mitochondrial DNA mutations and human reproduction1999
Professor Patrick Chinnery
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Peptide nucleic acid delivery to human mitochondria1999
Professor Patrick Chinnery
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Peptide nucleic acid delivery to human mitochondria1999
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 sclerosis1998
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 offspring1998
Professor Robert Lightowlers
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Mammalian mitochondrial genetics: Heredity, heteroplasmy and disease1997
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 athletes1997
Professor Patrick Chinnery
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes1997
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 disease1996
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 oxidase1993