D. Turnbull

Robert W. Taylor, D. Turnbull, M. Hermanová, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Edinburgh Research Explorer Mitochondrial Changes within Axons in Multiple Sclerosis Mitochondrial Changes within Axons in Multiple Sclerosis

P. Hanson, N. Lax, D. Turnbull, 2022 .

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network

Robert W. Taylor, D. Turnbull, R. Ogden, 2019, Cell reports.

Expanding Our Understanding of mtDNA Deletions.

D. Turnbull, M. Picard, A. Vincent, 2016, Cell metabolism.

Assessment of mitochondrial respiratory chain enzymes in cells and tissues.

Robert W. Taylor, D. Turnbull, Ann E. Frazier, 2020, Methods in cell biology.

Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres

D. Turnbull, M. Johnson, D. Howel, 2003, Journal of the Neurological Sciences.

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

D. Turnbull, A. Wright, P. Chinnery, 2008, Neurology.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Robert W. Taylor, D. Turnbull, M. Zeviani, 2006, Brain : a journal of neurology.

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.

Robert W. Taylor, D. Turnbull, P. Chinnery, 2006, American journal of human genetics.

Treatment for mitochondrial disorders.

D. Turnbull, P. Chinnery, K. Majamaa, 2006, The Cochrane database of systematic reviews.

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

D. Turnbull, P. Chinnery, N. Howell, 2001, American journal of medical genetics.

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

D. Turnbull, P. Chinnery, N. Howell, 2001, Brain : a journal of neurology.

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Robert W. Taylor, D. Turnbull, A. Compton, 2011, European Journal of Human Genetics.

[Kearns-Sayre syndrome: mitochondrial encephalomyopathy caused by deficiency of the respiratory chain].

G. Serratrice, D. Turnbull, J. Pouget, 1989 .

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations

D. Turnbull, M. Zeviani, L. Bindoff, 2005, Neurology.

Serum anticonvulsant concentrations and the risk of drug induced skin eruptions.

D. Turnbull, D. Chadwick, M. Rawlins, 1984, Journal of neurology, neurosurgery, and psychiatry.

Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia

D. Turnbull, M. Johnson, D. Dick, 1985, Journal of the Neurological Sciences.

Progressive depletion of mtDNA in mitochondrial myopathy

D. Turnbull, P. Chinnery, S. E. Durham, 2006, Neurology.

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2015, Clinical science.

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network

Robert W. Taylor, D. Turnbull, R. Ogden, 2019, Cell reports.

The effects of 2[5(4-chlorophenyl)pentyl]oxirane-2-carbonyl-Co-A on mitochondrial oxidations.

D. Turnbull, K. Bartlett, H. Sherratt, 1984, Biochemical pharmacology.

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

Robert W. Taylor, D. Turnbull, P. Chinnery, 2008, Brain : a journal of neurology.

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

D. Turnbull, P. Chinnery, G. Hudson, 2006, Neurology.

Endocrine myopathies.

D. Turnbull, P. Kendall‐Taylor, 1983, British medical journal.

Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.

D. Turnbull, L. Bindoff, S. Eaton, 1991, The Journal of biological chemistry.

Inhibition of glycogen synthase kinase-3 by insulin in cultured human skeletal muscle myoblasts.

D. Turnbull, J. Rochford, D. Turnbull, 1995, Biochemical and biophysical research communications.

RRM2B-Related Mitochondrial Disease

Robert W. Taylor, D. Turnbull, R. Pitceathly, 2013 .

Fatty Acid Oxidation in Peripheral Blood Cells: Characterization and Use for the Diagnosis of Defects of Fatty Acid Oxidation

D. Turnbull, M. Pourfarzam, S. Jackson, 1995, Pediatric Research.

Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex

I. M. Shepherd, D. Turnbull, J. Lindsay, 1988, Journal of Inherited Metabolic Disease.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Robert W. Taylor, N. Lax, D. Turnbull, 2018, EBioMedicine.

Developmental and Pathological Changes in the Human Cardiac Muscle Mitochondrial DNA Organization, Replication and Copy Number

Robert W. Taylor, D. Turnbull, H. Jacobs, 2010, PloS one.

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

D. Turnbull, P. Chinnery, G. Hudson, 2008, Journal of Medical Genetics.

Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls

Robert W. Taylor, D. Erskine, N. Lax, 2019, Acta Neuropathologica.

Can mitochondrial DNA mutations cause sperm dysfunction?

D. Turnbull, P. Chinnery, J. Spiropoulos, 2002, Molecular human reproduction.

Sub-cellular Running head: Pathogenesis of mtDNA deletion clonal expansion

D. Turnbull, C. Lawless, M. Picard, 2018 .

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): A clinical, biochemical and molecular study

G. Serratrice, D. Turnbull, N. Howell, 1991, Journal of the Neurological Sciences.

Cytochrome oxidase deficiency: Immunological studies of skeletal muscle mitochondrial fractions

I. M. Shepherd, D. Turnbull, M. Johnson, 1988, Journal of the Neurological Sciences.

Defects of Complex I and Complex IV in Skeletal Muscle from Patients with Chronic Progressive External Ophthalmoplegia a

Margaret A. Johnson, D. Turnbull, H. Sherratt, 1986 .

071 Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers

Robert W. Taylor, D. Turnbull, A. Blamire, 2012, Heart.

Scientific and Ethical Issues in Mitochondrial Donation

Robert W. Taylor, D. Turnbull, G. Gorman, 2018, The New bioethics : a multidisciplinary journal of biotechnology and the body.

Mitochondrial Dysfunction in Parkinson’s Disease—Cause or Consequence?

D. Turnbull, A. Reeve, Chun Chen, 2019, Biology.

Mitochondrial DNA mutations and human disease.

Robert W. Taylor, D. Turnbull, H. Tuppen, 2010, Biochimica et biophysica acta.

Reproductive Options for Women with Mitochondrial Disease

D. Turnbull, L. Craven, 2019, Diagnosis and Management of Mitochondrial Disorders.

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

Douglass M. Turnbull, Kathy K. Niakan, Elpida Fragouli, 2016, Nature.

Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations

Douglass M. Turnbull, L. Hyslop, N. Prathalingam, 2014, Scientific Reports.

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

D. Turnbull, P. Chinnery, N. Howell, 2000, Trends in genetics : TIG.

Mitochondrial replacement to prevent the transmission of mitochondrial DNA disease

M. Herbert, D. Turnbull, 2015, EMBO reports.

Recent Advances in Mitochondrial Disease.

Robert W. Taylor, D. Turnbull, C. Alston, 2017, Annual review of genomics and human genetics.

Mitochondrial Diseases: Hope for the Future

D. Turnbull, R. Lightowlers, G. Gorman, 2020, Cell.

Mitochondrial Donation - Which Women Could Benefit?

Robert W. Taylor, D. Turnbull, I. Wilson, 2019, The New England journal of medicine.

Mitochondrial diseases

S. Dimauro, D. Turnbull, M. Zeviani, 2016, Nature Reviews Disease Primers.

Mitochondrial DNA disorders: from pathogenic variants to preventing transmission

D. Turnbull, A. Vincent, Y. Ng, 2021, Human molecular genetics.

Progress in mitochondrial replacement therapies

M. Herbert, D. Turnbull, D. Turnbull, 2018, Nature Reviews Molecular Cell Biology.

Mitochondrial donation--how many women could benefit?

D. Turnbull, G. Gorman, J. Grady, 2015, The New England journal of medicine.

Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study

Robert W. Taylor, D. Turnbull, M. Martikainen, 2019, Annals of neurology.

Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

D. Turnbull, A. Mitchell, N. Howell, 2005, Journal of Medical Genetics.

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

D. Turnbull, P. Chinnery, N. Howell, 1997, Brain : a journal of neurology.

Research into Policy: A Brief History of Mitochondrial Donation

A. Murdoch, M. Herbert, D. Turnbull, 2015, Stem cells.

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

Robert W. Taylor, D. Turnbull, H. Cordell, 2018, Annals of clinical and translational neurology.

The Challenges of Mitochondrial Replacement

M. Herbert, D. Turnbull, P. Chinnery, 2014, PLoS genetics.

A national perspective on prenatal testing for mitochondrial disease

Robert W. Taylor, D. Turnbull, J. Poulton, 2014, European Journal of Human Genetics.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Beril Talim, Patrick F Chinnery, Robert W Taylor, 2014, JAMA.

Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids

Robert W. Taylor, D. Turnbull, P. Chinnery, 1997, Nature Genetics.

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2010, Investigative ophthalmology & visual science.

Methylene blue and fatal encephalopath y from ackee fruit poisoning

D. Turnbull, D. Turnbull, H. Sherratt, 1999, The Lancet.

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences

B. Galna, D. Turnbull, L. Rochester, 2013, Journal of Neurology.

A high frequency of mtDNA polymorphisms in HeLa cell sublines.

D. Turnbull, P. Chinnery, N. Howell, 2002, Mutation research.

Biochemical assays of respiratory chain complex activity.

Robert W. Taylor, D. Turnbull, D. Thorburn, 2007, Methods in cell biology.

A microtiter plate assay for cytochrome c oxidase in permeabilized whole cells.

D. Turnbull, Z. Chrzanowska-Lightowlers, R. Lightowlers, 1993, Analytical biochemistry.

Roles of Mitochondrial DNA Mutations in Stem Cell Ageing

Laura C. Greaves, D. Turnbull, T. Su, 2018, Genes.

Mitochondrial DNA mutations and ageing.

Laura C. Greaves, D. Turnbull, 2009, Biochimica et biophysica acta.

Chapter 5 Mitochondrial oxidations and ATP synthesis in muscle

D. Turnbull, H. Sherratt, D. Turnbull, 1996 .

Mitochondrial dysfunction impairs osteogenesis, increases osteoclast activity, and accelerates age related bone loss

Laura C. Greaves, D. Turnbull, A. Laude, 2020, Scientific Reports.

Fatty acid oxidation is required for the respiration and proliferation of malignant glioma cells

D. Turnbull, Elizabeth A. Stoll, Shaan Patel, 2016, Neuro-oncology.

Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase.

D. Turnbull, L. Bindoff, M. Pourfarzam, 1992, Progress in clinical and biological research.

Mitochondrial oxidations and tissue carnitine concentrations in riboflavin-deficient rats

D. Turnbull, H. Sherratt, E. Meredith, 1985 .

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

D. Turnbull, J. Leonard, S. Jackson, 1991, Pediatric Research.

A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype.

D. Turnbull, J. Leonard, M. Brivet, 1998, The Journal of pediatrics.

Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.

F. Gabreëls, D. Turnbull, B. Garavaglia, 1995, Journal of neurology, neurosurgery, and psychiatry.

Metabolic studies using isolated skeletal muscle: investigation of metabolic myopathies.

D. Turnbull, H. Sherratt, 1987, Bailliere's clinical endocrinology and metabolism.

HEPATIC PEROXISOMAL PROLIFERATION CAUSED BY ETHYL 2[5(4‐CHLORO‐PHENYL)PENTYL]OXIRAN‐2‐ CARBOXYLATE (CPOC): A HYPOGLYCEMIC INHIBITOR OF MITOCHONDRIAL FATTY ACID OXIDATION

D. Turnbull, H. Osmundsen, F. Hoof, 1982 .

Valproate causes metabolic disturbance in normal man.

D. Turnbull, K. Alberti, D. Dick, 1986, Journal of neurology, neurosurgery, and psychiatry.

Organic aciduria in fasted rats caused by 2-[6-(4-chlorophenoxy)hexyl]oxirane-2-carboxylate (etomoxir).

D. Turnbull, R. S. Kler, H. Sherratt, 1991, Biochemical pharmacology.

Endocrine disorders in mitochondrial disease☆

Robert W. Taylor, M. Walker, D. Turnbull, 2013, Molecular and Cellular Endocrinology.

Mitochondrial disease: genetics and management

D. Turnbull, Y. Ng, 2015, Journal of Neurology.

Anorexia nervosa, liquorice and hypokalaemic myopathy.

D. Turnbull, S. Nightingale, P. E. Smith, 1981, Postgraduate medical journal.

Mitochondrial DNA mutations and pathogenicity.

D. Turnbull, P. Chinnery, N. Howell, 1998, Journal of medical genetics.

Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2014, PLoS genetics.

Redox control of beta-oxidation in rat liver mitochondria.

D. Turnbull, S. Eaton, K. Bartlett, 1994, European journal of biochemistry.

Redox control of P-oxidation in rat liver mitochondria

D. Turnbull, S. Eaton, K. Bartlett, 1994 .

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.

D. Turnbull, M. Pourfarzam, M. Brivet, 1995, The Journal of pediatrics.

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Robert W. Taylor, D. Turnbull, U. Pohl, 2012, Brain : a journal of neurology.

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

Robert W. Taylor, D. Turnbull, P. Chinnery, 2002, Nucleic acids research.

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy

Martin Picard, Grainne S. Gorman, Robert W. Taylor, 2016, Scientific Reports.

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

Robert W. Taylor, D. Turnbull, K. J. Krishnan, 2013, Neurology.

Mitochondrial Medicine: A Historical Point of View

S. Dimauro, D. Turnbull, Y. Ng, 2019, Diagnosis and Management of Mitochondrial Disorders.

Genetic and biochemical intricacy shapes mitochondrial cytopathies

D. Turnbull, P. Rustin, 2016, Neurobiology of Disease.

Mutations causing mitochondrial disease: What is new and what challenges remain?

Robert W. Taylor, D. Turnbull, R. Lightowlers, 2015, Science.

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

Robert W. Taylor, D. Turnbull, L. Nijtmans, 2005, The FEBS journal.

Mitochondrial myopathy with skeletal muscle cytochrome oxidase deficiency

D. Turnbull, M. Johnson, A. Cross, 1982, Journal of Inherited Metabolic Disease.

Cytochrome c oxidase activity in single muscle fibers: Assay techniques and diagnostic applications

Margaret A. Johnson, D. Turnbull, L. Bindoff, 1993, Annals of neurology.

8 Defects of the respiratory chain

D. M. Turnbull, D. Turnbull, L. Bindoff, 1990 .

Mitochondrial myopathy with partial cytochrome oxidase deficiency and impaired oxidation of NADH-linked substrates.

D. Turnbull, M. Johnson, H. Sherratt, 1984, Journal of inherited metabolic disease.

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

D. Turnbull, M. Johnson, I. Hughes, 1983, Journal of the Neurological Sciences.

A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia

D. Turnbull, M. Johnson, D. Dick, 1983, Journal of the Neurological Sciences.

Mitochondrial medicine.

D. Turnbull, P. Chinnery, 1997, QJM : monthly journal of the Association of Physicians.

Locating the stem cell niche and tracing hepatocyte lineages in human liver

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2009, Hepatology.

An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.

D. Turnbull, L. Bindoff, D M Turnbull, 1994, Biochemical medicine and metabolic biology.

"Therapeutic" serum concentration of phenytoin: the influence of seizure type.

D. Turnbull, D. Chadwick, M. Rawlins, 1984, Journal of neurology, neurosurgery, and psychiatry.

Effects of obesity and weight loss on mitochondrial structure and function and implications for colorectal cancer risk

Laura C. Greaves, D. Turnbull, J. Mathers, 2019, Proceedings of the Nutrition Society.

Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues.

D. Turnbull, D. Turnbull, M. Birch-Machin, 2001, Methods in cell biology.

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

Robert W. Taylor, D. Turnbull, E. Wassmer, 2021, Annals of neurology.

Management of patients with dental disease and mitochondrial disorders.

D. Turnbull, A. Shakir, James R. Adams, 2012, Dental Update.

Restriction enzyme analysis of the mitochondrial genome in mitochondrial myopathy.

D. Turnbull, A. Mehta, J. Poulton, 1988, Journal of medical genetics.

Peptide nucleic acid delivery to human mitochondria

D. Turnbull, P. Chinnery, R. Lightowlers, 1999, Gene Therapy.

The sequence of the flavoprotein subunit of bovine heart succinate dehydrogenase.

D. Turnbull, A. Aitken, L. Bindoff, 1992, The Journal of biological chemistry.

Mitochondrial DNA deletions and depletion within paraspinal muscles

D. Turnbull, R. Reynolds, D. Mahad, 2012, Neuropathology and applied neurobiology.

Journal Pre-proof Phase II feasibility study of the efficacy, tolerability and impact on the gut microbiome of a low residue (fibre) diet in adult patients with mitochondrial disease.

M. Jackson, D. Turnbull, C. Lamb, 2022 .

Phase II Feasibility Study of the Efficacy, Tolerability, and Impact on the Gut Microbiome of a Low-Residue (Fiber) Diet in Adult Patients With Mitochondrial Disease

M. Jackson, D. Turnbull, C. Lamb, 2022, Gastro Hep Advances.

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging

Robert W. Taylor, Christopher A. Lavender, T. Kunkel, 2020, Genome biology.

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.

D. Turnbull, I. Nelson, N. Wood, 1999, American journal of human genetics.

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

Robert W. Taylor, D. Turnbull, P. Chinnery, 2015, Annals of neurology.

The epidemiology of pathogenic mitochondrial DNA mutations

D. Turnbull, M. Johnson, P. Chinnery, 2000, Annals of neurology.

Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.

D. Turnbull, N. Howell, J. Elson, 2004, American journal of human genetics.

Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2020, Nature Cancer.

Multipotent Basal Stem Cells, Maintained in Localized Proximal Niches, Support Directed Long-Ranging Epithelial Flows in Human Prostates

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2017, Cell reports.

Review: Mitochondria and disease progression in multiple sclerosis

D. Turnbull, H. Lassmann, D. Mahad, 2008, Neuropathology and applied neurobiology.

Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis.

D. Turnbull, B. Trapp, H. Lassmann, 2011, Brain : a journal of neurology.

African Haplogroup L mtDNA sequences show violations of clock-like evolution.

D. Turnbull, N. Howell, C. Herrnstadt, 2004, Molecular biology and evolution.

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations.

D. Turnbull, G. Taylor, D. Turnbull, 2001, Nucleic acids research.

Predominant Asymmetrical Stem Cell Fate Outcome Limits the Rate of Niche Succession in Human Colonic Crypts

Laura C. Greaves, D. Turnbull, T. Kirkwood, 2018, EBioMedicine.

Multi-system neurological disease is common in patients with OPA1 mutations

D. Turnbull, M. Zeviani, A. Wright, 2010, Brain : a journal of neurology.

OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.

D. Turnbull, M. Votruba, V. Hogan, 2009, Investigative ophthalmology & visual science.

Plasma concentrations of sodium valproate: Their clinical value

D. Turnbull, M. Rawlins, D. Chadwick, 1983, Annals of neurology.

Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients

D. Turnbull, C. Saris, J. Smeitink, 2019, JIMD reports.

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

M. Herbert, D. Turnbull, M. Santibanez-Koref, 2019, Mitochondrion.

Mitochondrial DNA and survival after sepsis: a prospective study

D. Turnbull, P. Chinnery, N. Howell, 2005, The Lancet.

What causes mitochondrial DNA deletions in human cells?

David C Samuels, Patrick F Chinnery, Robert W Taylor, 2008, Nature Genetics.

Mitochondrial DNA analysis: polymorphisms and pathogenicity

D. Turnbull, P. Chinnery, N. Howell, 1999, Journal of medical genetics.

Mitochondrial Nanotunnels

D. Turnbull, G. Hajnóczky, M. Picard, 2017, Trends in cell biology.

Mitochondrial morphology and function: two for the price of one!

D. Turnbull, A. Vincent, T. Davey, 2020, Journal of microscopy.

Mitochondrial DNA and genetic disease.

D. Turnbull, K. J. Krishnan, 2010, Essays in biochemistry.

Epidemiology and treatment of mitochondrial disorders.

D. Turnbull, P. Chinnery, D. Turnbull, 2001, American journal of medical genetics.

Gene therapy for mitochondrial DNA defects: is it possible?

D. Turnbull, Z. Chrzanowska-Lightowlers, R. Lightowlers, 1995, Gene therapy.

Clinical mitochondrial genetics

N Howell, D. Turnbull, P. Chinnery, 1999, Journal of medical genetics.

Spectrum of Movement Disorders in Mitochondrial Disorders-Reply.

D. Turnbull, M. Martikainen, D. Burn, 2016, JAMA neurology.

The neurology of mitochondrial DNA disease

Robert W. Taylor, D. Turnbull, R. Mcfarland, 2002, The Lancet Neurology.

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

Robert W. Taylor, D. Turnbull, R. Lightowlers, 2002, Nature Genetics.

6 Mitochondrial oxidations and ATP synthesis in muscle

D. Turnbull, H. Sherratt, 1990 .

Adult‐onset myoclonus ataxia associated with the mitochondrial m.8993T>C “NARP” mutation

D. Turnbull, M. Martikainen, D. Burn, 2015, Movement disorders : official journal of the Movement Disorder Society.

Disorders of the electron transport chain

D. Turnbull, P. Adams, 1996, Journal of Inherited Metabolic Disease.

Mutations of the mitochondrial ND1 gene as a cause of MELAS

D. Turnbull, A. Ohtake, M. Ryan, 2004, Journal of Medical Genetics.

Mitochondrial DNA Depletion in Respiratory Chain–Deficient Parkinson Disease Neurons

D. Turnbull, C. Morris, M. Picard, 2016, Annals of neurology.

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle

Robert W. Taylor, C. Cooper, D. Turnbull, 2018, Annals of neurology.

Causes of Death in Adults with Mitochondrial Disease.

D. Turnbull, E. Morava, R. Mcfarland, 2015, JIMD reports.

This Work Is Licensed under a Creative Commons Attribution 4.0 International License Perceived Fatigue Is Highly Prevalent and Debilitating in Patients with Mitochondrial Disease

D. Turnbull, J. Elson, J. Newton, 2022 .

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease

Robert W. Taylor, B. Galna, D. Turnbull, 2015, Journal of neuromuscular diseases.

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

Robert W. Taylor, D. Turnbull, Hanns Lochmüller, 2013, Human molecular genetics.

Mitochondrial dysfunction and lipid accumulation in the human diaphragm during mechanical ventilation.

D. Turnbull, S. Jaber, S. Matecki, 2012, American journal of respiratory and critical care medicine.

Habitual Physical Activity in Mitochondrial Disease

D. Turnbull, L. Sutton, T. Plötz, 2011, PloS one.

Neural Stem Cells in the Adult Subventricular Zone Oxidize Fatty Acids to Produce Energy and Support Neurogenic Activity

D. Turnbull, P. Horner, A. Trevelyan, 2015, Stem cells.

Linking the Metabolic State and Mitochondrial DNA in Chronic Disease, Health, and Aging

D. Turnbull, M. Picard, 2013, Diabetes.

Clonal Expansion in the Human Gut: Mitochondrial DNA Mutations Show Us the Way

Laura C. Greaves, D. Turnbull, N. Wright, 2006, Cell cycle.

In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells

Laura C. Greaves, D. Turnbull, C. Robson, 2011, The Journal of pathology.

Analysis of the clonal architecture of the human small intestinal epithelium establishes a common stem cell for all lineages and reveals a mechanism for the fixation and spread of mutations

D. Turnbull, N. Wright, S. Leedham, 2009, The Journal of pathology.

Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells.

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2008, Gastroenterology.

Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?

D. Turnbull, P. Chinnery, J. Elson, 2002, The Lancet.

The m.3291T>C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease

Robert W. Taylor, D. Turnbull, C. Alston, 2013, Journal of Neurological Sciences.

Mitochondrial disease--its impact, etiology, and pathology.

D. Turnbull, R. Mcfarland, R. Taylor, 2007, Current topics in developmental biology.

Effects of physical activity and age on mitochondrial function.

D. Turnbull, M. Johnson, O. James, 1996, QJM : monthly journal of the Association of Physicians.

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement

D. Turnbull, R. Perry, R. Lightowlers, 2006, Neuropathology and applied neurobiology.

Neuropathological Aspects of Mitochondrial DNA Disease

D. Turnbull, R. Lightowlers, J. Betts, 2004, Neurochemical Research.

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease

Robert W. Taylor, D. Turnbull, J. Elson, 2012, European Journal of Human Genetics.

Do organellar genomes function as long-term redox damage sensors?

D. Turnbull, A. Wright, M. Murphy, 2009, Trends in genetics : TIG.

Impact of Age-Related Mitochondrial Dysfunction and Exercise on Intestinal Microbiota Composition

Laura C. Greaves, J. Petrosino, D. Turnbull, 2017, The journals of gerontology. Series A, Biological sciences and medical sciences.

Prevalence of mitochondrial DNA disease in adults

Robert W. Taylor, D. Turnbull, P. Chinnery, 2008, Annals of neurology.

Short-chain acyl-CoA dehydrogenase deficiency.

I. M. Shepherd, D. Turnbull, K. Bartlett, 1990, Progress in clinical and biological research.

Does the mitochondrial genome play a role in the etiology of Alzheimer’s disease?

Douglass M. Turnbull, L. Thal, D. Turnbull, 2006, Human Genetics.

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2018, The Journal of pathology.

Neuro-Sweet's disease

D. Turnbull, N. Archibald, G. Maxwell, 2012, Practical Neurology.

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation

Robert W. Taylor, D. Turnbull, R. Petty, 2007, Journal of Neurology.

Dysferlin mutations and mitochondrial dysfunction

Robert W. Taylor, D. Turnbull, R. Barresi, 2016, Neuromuscular Disorders.

A subcellular cookie cutter for spatial genomics in human tissue

D. Turnbull, G. Hudson, P. Actis, 2021, bioRxiv.

Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period

Robert W. Taylor, D. Turnbull, J. Wyllie, 2006, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

The mitochondrial ND 6 gene is a hot spot for mutations that cause Leber ’ s hereditary optic neuropathy

D. Turnbull, P. Chinnery, N. Howell, 2000 .

Epilepsy in adults with mitochondrial disease: A cohort study

Robert W. Taylor, N. Lax, D. Turnbull, 2015, Annals of neurology.

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

Robert W. Taylor, D. Turnbull, P. Chinnery, 2017, Neurology: Genetics.

Selective impairments of mitochondrial respiratory chain activity during aging and ischemic brain damage.

D. Turnbull, A. Mendelow, M. Davis, 1997, Acta neurochirurgica. Supplement.

Treatment for mitochondrial disorders.

D. Turnbull, P. Chinnery, K. Majamaa, 2012, The Cochrane database of systematic reviews.

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

Robert W. Taylor, D. Turnbull, W. Copeland, 2012, Mitochondrion.

Adults with RRM 2 B-related mitochondrial disease have distinct clinical and molecular characteristics

Robert W. Taylor, D. Turnbull, U. Pohl, 2012 .

Treatment for mitochondrial myopathy

D. Turnbull, P. Chinnery, K. Majamaa, 2003 .

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

Robert W. Taylor, D. Turnbull, R. Kiefer, 2003, Neuromuscular Disorders.

The mitochondrial genome and mitochondrial muscle disorders.

D. Turnbull, A. Schaefer, D. Turnbull, 2001, Current opinion in pharmacology.

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

Leena Peltonen, Vineta Fellman, Anu Suomalainen, 2002, American journal of human genetics.

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

Robert W. Taylor, D. Turnbull, Andrew Gibson, 2007, Archives of neurology.

Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death

M. Elstner, D. Turnbull, C. Morris, 2011, Acta Neuropathologica.

Mitochondrial and inflammatory changes in sporadic inclusion body myositis

Robert W. Taylor, D. Turnbull, J. Grady, 2015, Neuropathology and applied neurobiology.

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis

Robert W. Taylor, D. Turnbull, M. Picard, 2016, Nucleic acids research.

Disease progression in patients with single, large-scale mitochondrial DNA deletions

Robert W. Taylor, D. Turnbull, R. McNally, 2013, Brain : a journal of neurology.

Mitochondria and Aging

D. Turnbull, M. Barron, 2003 .

Mitochondria and ageing

D. Turnbull, D. Cottrell, 2000, Current opinion in clinical nutrition and metabolic care.

Mitochondrial DNA mutations in aging.

D. Turnbull, K. Khrapko, D. Turnbull, 2014, Progress in molecular biology and translational science.

Mitochondrial DNA Mutations and Aging

Laura C. Greaves, D. Turnbull, K. J. Krishnan, 2007, Annals of the New York Academy of Sciences.

Role of mitochondrial DNA mutations in human aging: Implications for the central nervous system and muscle

Margaret A. Johnson, D. Turnbull, R. Lightowlers, 1998, Annals of neurology.

A neurological perspective on mitochondrial disease

Robert W. Taylor, D. Turnbull, R. Mcfarland, 2010, The Lancet Neurology.

Treatment for mitochondrial disorders (Review)

D. Turnbull, P. Chinnery, K. Majamaa, 2009 .

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

Robert W. Taylor, D. Turnbull, R. McNally, 2018, EMBO molecular medicine.

Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle

Robert W. Taylor, D. Turnbull, R. Haller, 2014, PloS one.

Distinctive Features of Orbital Adipose Tissue (OAT) in Graves’ Orbitopathy

S. Edkins, D. Turnbull, R. Berlinguer-Palmini, 2020, International journal of molecular sciences.

Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: implications for mitochondrial DNA replication, expression and disease.

D. Turnbull, J. Wilce, R. Lightowlers, 2001, Nucleic acids research.

Mitochondrial DNA Mutations in Disease, Aging, and Neurodegeneration

D. Turnbull, K. J. Krishnan, A. Reeve, 2008, Annals of the New York Academy of Sciences.

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

D. Turnbull, D. Mackey, N. Howell, 1991, American journal of human genetics.

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

Robert W. Taylor, J. Bourke, D. Turnbull, 2012, European heart journal.

The genetics and pathology of mitochondrial disease

Robert W Taylor, Robert W. Taylor, N. Lax, 2016, The Journal of pathology.

New treatments for mitochondrial disease—no time to drop our standards

V. Mootha, D. Turnbull, M. Zeviani, 2013, Nature Reviews Neurology.

Forecasting stroke-like episodes and outcomes in mitochondrial disease

Robert W. Taylor, D. Erskine, N. Lax, 2021, Brain : a journal of neurology.

The rise and rise of mitochondrial DNA mutations

Laura C. Greaves, D. Turnbull, C. Lawless, 2020, Open Biology.

Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease

Robert W. Taylor, N. Lax, D. Turnbull, 2015, Neuropathology and Applied Neurobiology.

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

Robert W. Taylor, N. Lax, D. Turnbull, 2012, Brain : a journal of neurology.

Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non‐invasive diagnosis of mitochondrial myopathy

D. Turnbull, M. Deadman, J. Poulton, 1991, Clinical genetics.

CHAPTER 88 – METABOLIC MYOPATHIES (INCLUDING MITOCHONDRIAL DISEASES)

D. Turnbull, P. Chinnery, 2007 .

Point mutations of the mtDNA control region in normal and neurodegenerative human brains.

T. Parsons, D. Turnbull, P. Chinnery, 2001, American journal of human genetics.

Insulin action in cultured human myoblasts: contribution of different signalling pathways to regulation of glycogen synthesis.

D. Turnbull, J. Vandenheede, S. Hurel, 1996, The Biochemical journal.

A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle

D. Turnbull, R. Ramsay, H. Sherratt, 1988, FEBS letters.

Carnitine palmitoyltransferase deficiency.

D. Turnbull, L. Bindoff, H. Sherratt, 1988, Journal of neurology, neurosurgery, and psychiatry.

Increased axonal mitochondrial activity as an adaptation to myelin deficiency in the Shiverer mouse

D. Turnbull, I. Griffiths, J. Edgar, 2006, Journal of neuroscience research.

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

D. Turnbull, J. Fletcher, A. Ohtake, 2004, Annals of neurology.

The ageing mitochondrial genome

Laura C. Greaves, D. Turnbull, K. J. Krishnan, 2007, Nucleic acids research.

Which drug for the adult epileptic patient: phenytoin or valproate?

D. Turnbull, D. Chadwick, D. Howel, 1985, British medical journal.

The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction

C. Davies, N. Lax, D. Turnbull, 2019, Brain : a journal of neurology.

The control of mitochondrial oxidations by complex III in rat muscle and liver mitochondria. Implications for our understanding of mitochondrial cytopathies in man.

D. Turnbull, M. Birch-Machin, K. Bartlett, 1994, The Journal of biological chemistry.

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Robert W. Taylor, D. Turnbull, R. Horvath, 2010, Molecular genetics and metabolism.

Batteries not included: diagnosis and management of mitochondrial disease

D. Turnbull, D. Turnbull, R. Mcfarland, 2009, Journal of internal medicine.

The role of mitochondrial haplogroups in primary open angle glaucoma

D. Turnbull, P. Chinnery, R. Andrews, 2006, British Journal of Ophthalmology.

Ablation of cellular prion protein expression affects mitochondrial numbers and morphology.

D. Turnbull, G. Miele, J. Manson, 2002, Biochemical and biophysical research communications.

Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

Robert W. Taylor, S. Dimauro, N. Lax, 2012, Archives of neurology.

Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age

D. Turnbull, M. Johnson, G. Borthwick, 2001, Neurobiology of Aging.

Prevention of cognitive decline in ageing: dementia as the target, delayed onset as the goal

D. Turnbull, 2011 .

The ischaemic lactate-ammonia test

D. Turnbull, P. Chinnery, D. Turnbull, 2001, Annals of clinical biochemistry.

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions.

Robert W. Taylor, D. Turnbull, M. Barron, 2006, Brain : a journal of neurology.

The epidemiology of Leber hereditary optic neuropathy in the North East of England.

D. Turnbull, P. Chinnery, P. Yu-Wai-Man, 2003, American journal of human genetics.

Naked mole-rats maintain healthy skeletal muscle and Complex IV mitochondrial enzyme function into old age

D. Turnbull, C. Faulkes, Elizabeth A. Stoll, 2016, Aging.

Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease

D. Turnbull, K. J. Krishnan, E. Jaros, 2012, Neurobiology of Aging.

Relative rates of evolution in the coding and control regions of African mtDNAs.

D. Turnbull, N. Howell, J. Elson, 2007, Molecular biology and evolution.

Dynamics of the most common pathogenic mtDNA variant m.3243A>G demonstrate frequency-dependency in blood and positive selection in the germline

D. Turnbull, K. Khrapko, M. Braverman, 2022, bioRxiv.

Estimating the allele frequency threshold of the pathogenic mtDNA variant m.3243A>G tolerated by human myofibres

D. Turnbull, C. Lawless, R. Taylor, 2022, medRxiv.

Bi-phasic dynamics of the mitochondrial DNA mutation m.3243A>G in blood: An unbiased, mutation level-dependent model implies positive selection in the germline

D. Turnbull, K. Khrapko, M. Braverman, 2021 .

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

Robert W. Taylor, D. Turnbull, A. Schaefer, 2017, The Journal of clinical endocrinology and metabolism.

Pseudo‐obstruction, stroke, and mitochondrial dysfunction: A lethal combination

Robert W. Taylor, D. Turnbull, Y. Yiannakou, 2016, Annals of neurology.

Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease

N. Lax, D. Turnbull, M. Cunningham, 2015, Neuropathology and applied neurobiology.

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management

Robert W. Taylor, D. Turnbull, S. Rahman, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

GASTROINTESTINAL TRACT INVOLVEMENT ASSOCIATED WITH THE 3243A>G MITOCHONDRIAL DNA MUTATION

D. Turnbull, M. Barron, S. Needham, 2008, Neurology.

The spectrum of hearing loss due to mitochondrial DNA defects.

A. Rees, T. Griffiths, D. Turnbull, 2000, Brain : a journal of neurology.

Mitochondrial isolation: when size matters

D. Turnbull, G. Hudson, P. Actis, 2020, Wellcome open research.

Mitochondrial isolation: when size matters.

D. Turnbull, G. Hudson, P. Actis, 2020, Wellcome open research.

URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION

D. Turnbull, P. Chinnery, R. Whittaker, 2009, Neurology.

Genotypes from patients indicate no paternal mitochondrial DNA contribution

Robert W. Taylor, D. Turnbull, M. Zeviani, 2003, Annals of neurology.

Mitochondria, the synapse, and neurodegeneration

D. Turnbull, Alexia Chrysostomou, D. Turnbull, 2016 .

The distribution of mitochondrial activity in relation to optic nerve structure.

Margaret A. Johnson, D. Turnbull, R. Andrews, 2002, Archives of ophthalmology.

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease.

D. Turnbull, P. Chinnery, N. Howell, 1997, Trends in genetics : TIG.

Denervation Causes Fiber Atrophy and Myosin Heavy Chain Co-Expression in Senescent Skeletal Muscle

Sharon L. Rowan, Fennigje M. Purves-Smith, D. Turnbull, 2012, PloS one.

Mitochondrial DNA mutations affect calcium handling in differentiated neurons

M. Whittington, D. Turnbull, A. Trevelyan, 2010, Brain : a journal of neurology.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Robert W. Taylor, S. Dimauro, H. Smeets, 2012, Brain : a journal of neurology.

Interventions for promoting physical activity in people with neuromuscular disease.

D. Turnbull, D. Jakovljevic, J. Burns, 2020, The Cochrane database of systematic reviews.

Pathophysiology of exercise intolerance in chronic diseases: the role of diminished cardiac performance in mitochondrial and heart failure patients

Sarah A. Moore, D. Turnbull, G. MacGowan, 2017, Open Heart.

Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration.

Robert W. Taylor, R. Mcinnes, D. Turnbull, 2011, Human molecular genetics.

Potential compounds for the treatment of mitochondrial disease.

D. Turnbull, R. Lightowlers, O. Russell, 2015, British medical bulletin.

Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders.

Massimo Zeviani, Jan A Smeitink, D. Turnbull, 2006, Cell metabolism.

Review: Central nervous system involvement in mitochondrial disease

N. Lax, D. Turnbull, G. Gorman, 2016, Neuropathology and applied neurobiology.

Microangiopathy in the cerebellum of patients with mitochondrial DNA disease

Robert W. Taylor, N. Lax, D. Turnbull, 2012, Brain : a journal of neurology.

The mitochondrial brain: From mitochondrial genome to neurodegeneration

N. Lax, D. Turnbull, D. Diodato, 2010, Biochimica et biophysica acta.

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

Robert W. Taylor, D. Turnbull, R. Haller, 2008, Brain : a journal of neurology.

Biochemical and Molecular Studies of Mitochondrial Function in Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness

D. Turnbull, K. Alberti, K. Weber, 1994, Diabetes Care.

Late‐onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

D. Turnbull, M. Birch-Machin, B. Ackrell, 2000, Annals of neurology.

Mitochondrial respiratory chain deficiency in older men and its relationship with muscle mass and performance

C. Cooper, D. Turnbull, H. Syddall, 2017 .

The ageing neuromuscular system and sarcopenia: a mitochondrial perspective

D. Turnbull, M. Picard, K. Rygiel, 2016, The Journal of physiology.

The feasibility of muscle mitochondrial respiratory chain phenotyping across the cognitive spectrum in Parkinson's disease

Robert W. Taylor, D. Turnbull, A. Yarnall, 2020, Experimental Gerontology.

So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager

D. Turnbull, M. Pourfarzam, M. Beresford, 2006, Neuromuscular Disorders.

Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations

D. Turnbull, P. Chinnery, D. T. Brown, 2002, Journal of medical genetics.

Does impaired mitochondrial function affect insulin signaling and action in cultured human skeletal muscle cells?

M. Elstner, D. Turnbull, S. Yeaman, 2008, American journal of physiology. Endocrinology and metabolism.

Respiratory chain deficiency in aged spinal motor neurons☆

D. Turnbull, J. Grady, K. Rygiel, 2014, Neurobiology of Aging.

AJHG MS 43461 revised v 3 Mutant POLG 2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia

D. Turnbull, P. Chinnery, G. Hudson, 2008 .

Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Robert W. Taylor, D. Turnbull, P. Chinnery, 2006 .

MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE

D. Turnbull, T. Kraya, S. Zierz, 2007, Neurology.

Quantification of mitochondrial DNA mutation load

Laura C. Greaves, D. Turnbull, K. Khrapko, 2009, Aging cell.

Consensus-based statements for the management of mitochondrial stroke-like episodes

D. Turnbull, M. Martikainen, M. Mancuso, 2019, Wellcome open research.

Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired.

Robert W. Taylor, D. Turnbull, R. Lightowlers, 2003, Biochimica et biophysica acta.

Cerebellar Ataxia in Patients With Mitochondrial DNA Disease: A Molecular Clinicopathological Study

Robert W. Taylor, N. Lax, D. Turnbull, 2012, Journal of neuropathology and experimental neurology.

The diagnosis of mitochondrial muscle disease

Robert W. Taylor, D. Turnbull, M. Barron, 2004, Neuromuscular Disorders.

Newcastle University Eprints Date Deposited: 24 the Impact of Pathogenic Mitochondrial Dna Mutations on Substantia Nigra Neurons

N. Lax, D. Turnbull, E. Jaros, 2022 .

Skeletal muscle mitochondrial beta-oxidation. A study of the products of oxidation of [U-14C]hexadecanoate by h.p.l.c. using continuous on-line radiochemical detection.

D. Turnbull, N. Watmough, K. Bartlett, 1988, The Biochemical journal.

Chapter 7 Current and Future Prospects for the Treatment of Mitochondrial Disorders

Robert W. Taylor, D. Turnbull, Robert W. Taylor, 2002 .

Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects

Daniel M. Jones, J. Bourke, D. Turnbull, 2021, Open Heart.

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Robert W. Taylor, M. Elstner, D. Turnbull, 2008, European Journal of Human Genetics.

Laura C. Greaves, D. Turnbull, T. Kirkwood, 2014, Mechanisms of Ageing and Development.

Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2012, PLoS genetics.

Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry.

D. Turnbull, C. Lawless, David McDonald, 2022, Bone.

Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA−/− mice

Laura C. Greaves, D. Turnbull, D. Deehan, 2016, Scientific Reports.

Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease

D. Turnbull, W. Parker, L. Bindoff, 1991, Journal of the Neurological Sciences.

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

Robert W. Taylor, J. Bourke, N. Lax, 2015, European heart journal.

Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A>G melas mutation

D. Turnbull, R. Whittaker, R. Mcfarland, 2008, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Defects of the respiratory chain.

D. Turnbull, L. Bindoff, 1990, Bailliere's clinical endocrinology and metabolism.

MITOCHONDRIAL FUNCTION IN PARKINSON'S DISEASE

D. Turnbull, W. Parker, L. Bindoff, 1989, The Lancet.

Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions

M. Elstner, D. Turnbull, K. J. Krishnan, 2008, Journal of Neurology.

Accelerated ageing changes in the choroid plexus of a case with multiple mitochondrial DNA deletions

D. Turnbull, M. Johnson, P. Ince, 2001, Neuropathology and applied neurobiology.

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.

Robert W. Taylor, D. Turnbull, J. Lindon, 2015, Kidney international.

Deficiency of respiratory chain complex I is a common cause of leigh disease

D. Turnbull, G. Brown, B. Harding, 1996, Annals of neurology.

Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations

D. Turnbull, M. Duchen, R. Lightowlers, 2010, Brain : a journal of neurology.

The investigation of mitochondrial respiratory chain disease.

D. Turnbull, L. Bindoff, A. Morris, 1995, Journal of the Royal Society of Medicine.

Motor neuron disease in a patient with a mitochondrial tRNAIle mutation

D. Turnbull, G. Borthwick, G. Taylor, 2006, Annals of neurology.

Investigation of the Role of Mitochondrial DNA in Multiple Sclerosis Susceptibility

M. Ban, S. Sawcer, A. Compston, 2008, PloS one.

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

Robert W. Taylor, D. Turnbull, T. Harrower, 2005, European Journal of Human Genetics.

Leigh disease associated with a novel mitochondrial DNA ND5 mutation

Robert W Taylor, Robert W. Taylor, Michael K. Hutchinson, 2002, European Journal of Human Genetics.

Homoplasmy, heteroplasmy, and mitochondrial dystonia

P. Dorman, D. Turnbull, V. Ramesh, 2007, Neurology.

A novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome

Robert W. Taylor, Margaret A. Johnson, D. Turnbull, 2004, European Journal of Human Genetics.

Changes in the human mitochondrial genome after treatment of malignant disease.

Robert W. Taylor, D. Turnbull, A. Craft, 2003, Mutation research.

Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract

T. Parsons, D. Turnbull, P. Chinnery, 2001, Gut.

Mitochondrial DNA mutations in the pathogenesis of human disease.

D. Turnbull, P. Chinnery, D. Turnbull, 2000, Molecular medicine today.

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy

Robert W. Taylor, D. Turnbull, M. Rose, 2016, Neurology: Genetics.

Distal weakness with respiratory insufficiency caused by the m.8344A > G “MERRF” mutation

Robert W. Taylor, D. Turnbull, B. Chakrabarti, 2014, Neuromuscular Disorders.

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis

Robert W. Taylor, D. Turnbull, P. Chinnery, 2004, Neuromuscular Disorders.

Increased activity of peroxisomal beta-oxidation in rat liver caused by ethyl 2(5(4-chlorophenyl)pentyl)-oxiran-2-carboxylate: an inhibitor of mitochondrial beta-oxidation.

D. Turnbull, H. Osmundsen, A. Bone, 1982, Biochemical and biophysical research communications.

Neuropathological and Histochemical Changes in a Multiple Mitochondrial DNA Deletion Disorder

D. Turnbull, M. Johnson, P. Chinnery, 2000, Journal of neuropathology and experimental neurology.

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene

Robert W. Taylor, D. Turnbull, P. Smith, 2001, Annals of neurology.

Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation

Robert W. Taylor, M. Walker, D. Turnbull, 2004, Annals of neurology.

Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.

D. Turnbull, R. Schutgens, L. Bindoff, 1992, Neuropediatrics.

Nuclear genes and mitochondrial translation: a new class of genetic disease.

D. Turnbull, H. Jacobs, 2005, Trends in genetics : TIG.

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

Robert W. Taylor, Margaret A. Johnson, D. Turnbull, 2004, Neuromuscular Disorders.

Molecular analysis of cytochromec Oxidase deficiency in Leigh's syndrome

D. Turnbull, R. Lightowlers, Paula L. Adams, 1997, Annals of neurology.

Maternally inherited mitochondrial DNA disease in consanguineous families

Robert W. Taylor, D. Turnbull, I. Hughes, 2011, European Journal of Human Genetics.

The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent‐onset POLG‐related mitochondrial disease

Robert W. Taylor, D. Turnbull, V. Ramesh, 2018, Epilepsia open.

Systematic review of cognitive deficits in adult mitochondrial disease

D. Turnbull, G. Gorman, D. Turnbull, 2019, European journal of neurology.

Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability

Robert W. Taylor, D. Turnbull, A. Schaefer, 2019, Annals of clinical and translational neurology.

Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells

Robert W. Taylor, D. Turnbull, P. Chinnery, 2004, European Journal of Human Genetics.

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

Robert W. Taylor, S. Dimauro, D. Turnbull, 2003, Journal of the American College of Cardiology.

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

D. Turnbull, P. Chinnery, L. Bindoff, 1996, Annals of neurology.

Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2010, Aging cell.

A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy

Robert W. Taylor, D. Turnbull, A. Schaefer, 2002, Neuromuscular Disorders.

Mitochondrial DNA disease: new options for prevention.

S. Byerley, A. Murdoch, M. Herbert, 2011, Human molecular genetics.

Transcriptome analysis in mitochondrial disorders

M. Elstner, D. Turnbull, D. Turnbull, 2012, Brain Research Bulletin.

Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium.

Margaret A. Johnson, D. Turnbull, R. Andrews, 2002, Pediatric research.

Mitochondrial changes within axons in multiple sclerosis: an update.

D. Turnbull, D. Mahad, N. Ohno, 2012, Current opinion in neurology.

Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle

D. Turnbull, D. Wallace, S. E. Gartside, 2013, Journal of applied physiology.

Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets

D. Turnbull, M. Pourfarzam, S. Jackson, 1992, Journal of Inherited Metabolic Disease.

Experimental Strategies Towards Treating Mitochondrial DNA Disorders

Robert W. Taylor, D. Turnbull, L. Craven, 2007, Bioscience reports.

Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome

D. Turnbull, P. Chinnery, R. Andrews, 1999, Eye.

Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s disease

D. Turnbull, David McDonald, A. Filby, 2021, npj Parkinson's Disease.

Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s disease

D. Turnbull, David McDonald, A. Filby, 2021, NPJ Parkinson's disease.

Neuromuscular disease presentation with three genetic defects involving two genomes

Robert W. Taylor, D. Turnbull, J. Goodship, 2009, Neuromuscular Disorders.

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation

Robert W. Taylor, D. Turnbull, R. Lightowlers, 2008, Nucleic acids research.

Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease

S. Ward, D. Turnbull, N. Wood, 1999, Heart.

Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis

C. B. White, Robert W. Taylor, D. Turnbull, 2006, Pediatric Research.

Mitochondrial dysfunction in myofibrillar myopathy

Robert W. Taylor, D. Turnbull, R. Barresi, 2016, Neuromuscular Disorders.

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.

Robert W. Taylor, D. Turnbull, Z. Chrzanowska-Lightowlers, 2003, Molecular genetics and metabolism.

Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo

Robert W. Taylor, D. Turnbull, M. Lako, 2018, Scientific Reports.

Mitochondrial DNA Mutations in Individuals Occupationally Exposed to Ionizing Radiation

D. Turnbull, P. Chinnery, C. Relton, 2006, Radiation research.

Mitochondrial abnormalities in ageing macular photoreceptors.

D. Turnbull, M. Johnson, R. Andrews, 2001, Investigative ophthalmology & visual science.

Mutations of mitochondrial DNA: the molecular basis of mitochondrial encephalo-myopathies and ageing

Margaret A. Johnson, D. Turnbull, P. Seibel, 1991 .

Immunocytochemical studies of cytochrome oxidase subunits in skeletal muscle of patients with partial cytochrome oxidase deficiencies

D. Turnbull, M. Johnson, B. Kadenbach, 1988, Journal of the Neurological Sciences.

Immunocytochemical studies of cytochrome oxidase deficiencies in human skeletal muscle

Margaret A. Johnson, D. Turnbull, J. Fulthorpe, 1985 .

Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina

Margaret A. Johnson, Philip G Griffiths, D. Turnbull, 1999, The British journal of ophthalmology.

Mitochondrial DNA disease—molecular insights and potential routes to a cure

D. Turnbull, O. Russell, D. Turnbull, 2014, Experimental cell research.

The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons

Robert W. Taylor, D. Turnbull, C. Morris, 2009, Aging cell.

Frequency of rare mitochondrial DNA mutations in patients with suspected Leber’s hereditary optic neuropathy

D. Turnbull, P. Chinnery, M. Jobling, 2003, Journal of medical genetics.

Mitochondrial abnormality associates with type-specific neuronal loss and cell morphology changes in the pedunculopontine nucleus in Parkinson disease.

D. Turnbull, C. Morris, J. Elson, 2013, The American journal of pathology.

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Joanna Poulton, Robert W Taylor, Robert W. Taylor, 2013, Human mutation.

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis.

D. Turnbull, M. Johnson, P. Chinnery, 1998, Biochemical and biophysical research communications.

Mitochondrial involvement in the ageing process. Facts and controversies

Margaret A. Johnson, D. Turnbull, O. James, 1997, Molecular and Cellular Biochemistry.

Mitochondrial function in muscle from elderly athletes

J. W. Reed, Margaret A. Johnson, D. Turnbull, 1997, Annals of neurology.

Alpha‐synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions

D. Turnbull, K. J. Krishnan, R. Perry, 2009, Neuropathology and applied neurobiology.

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

Robert W. Taylor, D. Turnbull, M. Martikainen, 2016, JAMA neurology.

The effect of valproate on blood metabolite concentrations in spontaneously diabetic, ketoacidotic, BB/E Wistar rats.

D. Turnbull, J. Baird, A. Bone, 1985, Diabetes research.

Pathogenic mitochondrial tRNA mutations – Which mutations are inherited and why?

D. Turnbull, J. Elson, R. Mcfarland, 2009, Human mutation.

Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease

Alex Laude, N. Lax, D. Turnbull, 2016, Scientific Reports.

When to think about mitochondrial disease

D. Turnbull, Y. Ng, 2020, Practical Neurology.

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

Robert W. Taylor, N. Lax, D. Turnbull, 2013, Journal of neuropathology and experimental neurology.

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle

Robert W. Taylor, D. Turnbull, J. Lowe, 2010, Journal of the Neurological Sciences.

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells.

Robert W. Taylor, D. Turnbull, R. Whittaker, 2010, Biochemical and biophysical research communications.

Kim J. Krishnan, D. Turnbull, K. J. Krishnan, 2008, Biotechnology journal.

Do mitochondrial DNA mutations have a role in neurodegenerative disease?

D. Turnbull, K. J. Krishnan, A. Reeve, 2007, Biochemical Society transactions.

Timed interruption of insulin therapy in diabetic BB/E rat pregnancy: effect on maternal metabolism and fetal outcome.

D. Turnbull, J. Baird, A. Bone, 1989, Acta endocrinologica.

Detection of mitochondrial DNA variation in human cells.

Robert W. Taylor, D. Turnbull, K. J. Krishnan, 2010, Methods in molecular biology.

Investigation of metabolic myopathies.

D. Turnbull, P. Chinnery, R. Taylor, 2007, Handbook of clinical neurology.

A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency.

D. Turnbull, J. Leonard, A. Aynsley-Green, 1987, Clinica chimica acta; international journal of clinical chemistry.

mtDNA mutations and common neurodegenerative disorders.

D. Turnbull, P. Chinnery, N. Howell, 2005, Trends in genetics : TIG.

Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions

Robert W. Taylor, D. Turnbull, R. Haller, 2018, Annals of neurology.

Mitochondrial DNA deletion in “identical” twin brothers

D. Turnbull, P. Chinnery, R. Lightowlers, 2004, Journal of Medical Genetics.

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene

D. Turnbull, A. Schaefer, R. Petty, 2004, Neurology.

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants

Robert W. Taylor, M. Elstner, D. Turnbull, 2006, Nucleic acids research.

Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions

L. Leidolt, M. Elstner, D. Turnbull, 2011, Molecular Brain.

The effects of valproate on intermediary metabolism in isolated rat hepatocytes and intact rats.

D. Turnbull, K. Bartlett, A. Bone, 1983, Biochemical pharmacology.

In-vitro genetic modification of mitochondrial function.

D. Turnbull, P. Chinnery, R. Lightowlers, 2000, Human reproduction.

Single‐cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

I. McKeith, M. Elstner, D. Turnbull, 2009, Annals of neurology.

Inhibition of mitochondrial β-oxidation at the stage of carnitine palmitoyltransferase I by the coenzyme A esters of some substituted hypoglycaemic oxiran-2-carboxylic acids

D. Turnbull, K. Bartlett, A. Bone, 1981 .

Neuromuscular Junction Abnormalities in Mitochondrial Disease

Robert W. Taylor, D. Turnbull, R. Whittaker, 2019, Neurology. Clinical practice.

Neuromuscular Junction Abnormalities in Mitochondrial Disease AnObservational Cohort Study

Robert W. Taylor, D. Turnbull, R. Whittaker, 2022 .

The seventh European Meeting on Mitochondrial Pathology

D. Turnbull, M. Zeviani, 2009 .

A rapid fluorometric method for the determination of carnitine palmitoyltransferase.

H. Reichmann, D. Turnbull, J. Schäfer, 1993, Analytical biochemistry.

Somatic mitochondrial DNA mutations in adult-onset leukaemia

D. Turnbull, S. Proctor, R. Taylor, 2003, Leukemia.

Human stem cell aging: do mitochondrial DNA mutations have a causal role?

Laura C. Greaves, D. Turnbull, Holly L. Baines, 2014, Aging cell.

Clinical Reasoning: Blurred vision and dancing feet

D. Turnbull, G. Gorman, D. Turnbull, 2009, Neurology.

Mitochondrial dysfunction plays a key role in progressive axonal loss in Multiple Sclerosis.

D. Turnbull, D. Bates, P. Nichols, 2005, Medical hypotheses.

Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies

D. Erskine, N. Lax, D. Turnbull, 2020, Acta Neuropathologica Communications.

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

Robert W. Taylor, D. Turnbull, K. Bushby, 2008, Neuromuscular Disorders.

Diabetes and Deafness

Robert W. Taylor, D. Turnbull, R. Whittaker, 2007, Diabetes Care.

Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons

M. Whittington, D. Turnbull, M. Cunningham, 2011, Brain : a journal of neurology.

No evidence of an association between the T16189C mtDNA variant and late onset dementia

D. Turnbull, C. Morris, J. Edwardson, 2004, Journal of Medical Genetics.

Detecting respiratory chain deficiency in osteoblasts of older patients

D. Turnbull, A. Laude, C. Lawless, 2021, medRxiv.

Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy

Robert W. Taylor, D. Turnbull, R. Haller, 2012, Neuromuscular Disorders.

The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy

Margaret A. Johnson, D. Turnbull, P. Chinnery, 2002, Neuromuscular Disorders.

mtDNA disease for the neurologist

Robert W. Taylor, D. Turnbull, R. Whittaker, 2011 .

Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation

Michael K. Hutchinson, D. Turnbull, S. Connolly, 2009, Muscle and Nerve.

Differences in the accumulation of mitochondrial defects with age in mice and humans

Laura C. Greaves, D. Turnbull, T. Kirkwood, 2011, Mechanisms of Ageing and Development.

Biochemical Investigation of Muscle Disease

D. Turnbull, L. Bindoff, 1989, Annals of clinical biochemistry.

Robert W. Taylor, D. Turnbull, P. Chinnery, 2008 .

Transmission of the human mitochondrial genome.

D. Turnbull, E. Fahy, P. Chinnery, 2000, Human reproduction.

Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood.

D. Turnbull, C. Morris, G. Taylor, 1998, Biochemical and biophysical research communications.

Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply

Robert W. Taylor, D. Turnbull, P. Chinnery, 2008 .

A roundabout route to gene therapy

Douglass M. Turnbull, D. Turnbull, R. Lightowlers, 2002, Nature Genetics.

Molecular basis for treatment of mitochondrial myopathies

D. Turnbull, R. Lightowlers, R. Taylor, 2000, Neurological Sciences.

Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees

D. Turnbull, D. Mackey, T. Rosenberg, 2004, Journal of Medical Genetics.

cells?and action in cultured human skeletal muscle Does impaired mitochondrial function affect insulin

M. Elstner, D. Turnbull, S. Yeaman, 2013 .

Pure myopathy associated with a novel mitochondrial tRNA gene mutation

D. Turnbull, S. Zierz, H. Swalwell, 2006, Neurology.

Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis

Robert W Taylor, Philip G Griffiths, D. Turnbull, 2005, Muscle & nerve.

Analysis of mitochondrial DNA mutations : deletions.

D. Turnbull, G. Borthwick, R. Taylor, 2000, Methods in molecular medicine.

An essential guide to mtDNA maintenance

D. Turnbull, R. Lightowlers, 1998, Nature Genetics.

Mitochondrial DNA disease masquerading as age-related macular degeneration

D. Turnbull, P. Chinnery, R. Andrews, 1999, Eye.

Pathogenic mitochondrial DNA mutations and human reproduction.

D. Turnbull, P. Chinnery, J. Spiropoulos, 1999, Human fertility.

Lower urinary tract dysfunction in adult patients with mitochondrial disease

D. Turnbull, G. Gorman, A. Sachdeva, 2020, Neurourology and urodynamics.

Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates.

D. Turnbull, R. Lightowlers, B. Connolly, 2001, Nucleic acids research.

Characterisation of a novel enzyme of human fatty acid beta-oxidation: a matrix-associated, mitochondrial 2-enoyl-CoA hydratase.

D. Turnbull, S. Jackson, B. Middleton, 1995, Biochemical and biophysical research communications.

Clonally expanded mitochondrial DNA deletions within the choroid plexus in multiple sclerosis

D. Turnbull, K. Khrapko, J. Newcombe, 2012, Acta Neuropathologica.

Detection of cytochrome c oxidase activity and mitochondrial proteins in single cells

D. Turnbull, K. Smith, D. Mahad, 2009, Journal of Neuroscience Methods.

Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2010, Investigative ophthalmology & visual science.

Vomiting, anorexia, and mitochondrial DNA disease

D. Turnbull, P. Chinnery, 1998, The Lancet.

No excess of mitochondrial DNA deletions within muscle in progressive multiple sclerosis

D. Turnbull, R. Reynolds, D. Mahad, 2013, Multiple sclerosis.

Edinburgh Research Explorer No excess of mitochondrial DNA deletions within muscle in progressive multiple sclerosis

D. Turnbull, R. Reynolds, D. Mahad, 2013 .

Variation in the calpain-10 gene affects blood glucose levels in the British population.

T. Frayling, A. Hattersley, M. Walker, 2002, Diabetes.

Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities.

D. Turnbull, M. Johnson, B. Ashworth, 1988, Brain : a journal of neurology.

Decreased male reproductive success in association with mitochondrial dysfunction

Robert W. Taylor, D. Turnbull, M. Martikainen, 2017, European Journal of Human Genetics.

Mitochondrial myopathies: defects in β-oxidation

D. Turnbull, H. Sherratt, 1985 .

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

D. Turnbull, N. Howell, I. Kubacka, 1992, Human Genetics.

Explorer Mitochondrial changes within axons in multiple sclerosis

P. Hanson, N. Lax, D. Turnbull, 2016 .

Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease

D. Turnbull, R. Lightowlers, D. Watt, 2004, Neuromuscular Disorders.

SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.

D. Turnbull, M. Johnson, R. Lightowlers, 1998, The Journal of clinical investigation.

Mitochondrial Diseases

S. Dimauro, D. Turnbull, M. Zeviani, 2012, Journal of epilepsy research.

The diagnosis of posterior reversible encephalopathy syndrome

D. Turnbull, M. Martikainen, G. Gorman, 2015, The Lancet Neurology.

Feasibility and impact of haplogroup matching for mitochondrial replacement treatment.

L. Hyslop, M. Herbert, D. Turnbull, 2023, EMBO reports.

74th ENMC International Workshop: Mitochondrial Diseases 19–20 November 1999, Naarden, The Netherlands

D. Turnbull, J. Poulton, D. Turnbull, 2000, Neuromuscular Disorders.

Explorer Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis

D. Turnbull, H. Lassmann, R. Reynolds, 2016 .

PP-41 DETERMINATION OF MUTATION LOADS IN PREIMPLANTATION EMBRYOS TO ASSESS THE EFFECTIVENESS OF PREIMPLANTATION GENETIC DIAGNOSIS (PGD) FOR MITOCHONDRIAL DNA (MTDNA) INHERITED DISORDERS

S. Byerley, M. Herbert, D. Turnbull, 2012 .

Explorer Mitochondrial changes within axons in multiple sclerosis

P. Hanson, N. Lax, D. Turnbull, 2017 .

Mitochondrial Mutations

N. Lax, D. Turnbull, A. Reeve, 1999, Science.

Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect.

D. Turnbull, G. Besley, P. Robinson, 2001, The Journal of laryngology and otology.

Age‐associated mitochondrial complex I deficiency is linked to increased stem cell proliferation rates in the mouse colon

Laura C. Greaves, D. Turnbull, D. Houghton, 2021, Aging cell.

A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis

D. Turnbull, M. Johnson, P. Chinnery, 1997, Annals of neurology.

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

D. Turnbull, V. Tiranti, M. Zeviani, 2003, Neurology.

Impact of age on the association between cardiac high-energy phosphate metabolism and cardiac power in women

D. Turnbull, G. MacGowan, P. Seferovic, 2017, Heart.

Edinburgh Research Explorer Mitochondrial Defects in Acute Multiple Sclerosis Lesions Mitochondrial Defects in Acute Multiple Sclerosis Lesions

D. Turnbull, H. Lassmann, D. Mahad, 2022 .

Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'.

Y. Orlov, D. Turnbull, K. Khrapko, 2010, Trends in genetics : TIG.

Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: Link to colon cancer?

Laura C. Greaves, D. Turnbull, J. Mathers, 2009, Proceedings of the National Academy of Sciences.

Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach.

D. Turnbull, J. Elson, Robert W. Taylor, 2007, The Biochemical journal.

Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree

D. Turnbull, P. Chinnery, N. Howell, 2004, Human Genetics.

Apolipoprotein E and familial non-insulin-dependent diabetes mellitus

D. Turnbull, K. Alberti, D. Humphriss, 1994, The Lancet.

Mitochondrial DNA mutations in the haematopoietic system

D. Turnbull, S. Proctor, P. Middleton, 2004, Leukemia.

The Impact of Pathogenic Mitochondrial DNA Mutations on Substantia Nigra Neurons

N. Lax, D. Turnbull, E. Jaros, 2013, The Journal of Neuroscience.

Normal respiratory chain function in patients with low-tension glaucoma.

D. Turnbull, M. Johnson, P. Griffiths, 1996, Archives of ophthalmology.

Clonally expanded mitochondrial DNA deletions within the choroid plexus in multiple sclerosis

D. Turnbull, K. Khrapko, J. Newcombe, 2012, Acta Neuropathologica.

Increase in mitochondrial density within axons and supporting cells in response to demyelination in the Plp1 mouse model

D. Turnbull, I. Griffiths, J. Edgar, 2009, Journal of neuroscience research.

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

D. Turnbull, A. Schaefer, T. Cheetham, 2018, The Journal of clinical endocrinology and metabolism.

Mitochondrial DNA analysis: polymorphisms and pathogenicity

D. Turnbull, P. Chinnery, N. Howell, 1999, Journal of medical genetics.

Searching for the needle in the Haystacks

D. Turnbull, A. Woywodt, O. Ogundare, 2009, The Lancet.

Analysis of European mtDNAs for recombination.

D. Turnbull, P. Chinnery, N. Howell, 2001, American journal of human genetics.

27 – Identification of Mitochondrial Dysfunction at Coupling Site II

D. Turnbull, N. Howell, M. Birch-Machin, 1993 .

Triplex real-time PCR–an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells

D. Turnbull, J. Grady, H. Tuppen, 2015, Scientific Reports.

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

D. Turnbull, M. Martikainen, D. Burn, 2016, JAMA neurology.

Late‐onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

D. Turnbull, M. Birch-Machin, B. Ackrell, 2000, Annals of neurology.

An antigenomic strategy for treating heteroplasmic mtDNA disorders.

D. Turnbull, R. Lightowlers, Paul M. Smith, 2001, Advanced drug delivery reviews.

Mitochondrial DNA mutations in disease and ageing.

D. Turnbull, M. Johnson, G. Borthwick, 2001, Novartis Foundation symposium.

Effects of MitoQ and Sod2 on Rates of Retinal Degeneration in Rd1, Atrd1, Rho–/– and Rds Mutant Mice

D. Turnbull, B. Tulloch, D. Vlachantoni, 2006 .