D. Turnbull

发表

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

A. Hattersley, R. Murphy, D. Turnbull, 2008, Diabetic medicine : a journal of the British Diabetic Association.

Assessment of visual function in chronic progressive external ophthalmoplegia

P. Chinnery, P. Griffiths, D. Turnbull, 2006, Eye.

Ocular motility findings in chronic progressive external ophthalmoplegia

A. Schaefer, P. Griffiths, D. Turnbull, 2003, Eye.

Leber hereditary optic neuropathy

D. Turnbull, P. Chinnery, P. Y. Man, 2002, Journal of medical genetics.

Methylene blue and fatal encephalopath y from ackee fruit poisoning

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

The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates.

D. Turnbull, D. Mackey, P. Chinnery, 2003, American journal of human genetics.

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.

Epidemiology and treatment of mitochondrial disorders.

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

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.

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

F. Muntoni, B. Andresen, S. Rahman, 2003, Journal of Inherited Metabolic Disease.

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.

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.

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

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

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.

Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies

I. McKeith, C. Morris, P. Chinnery, 2000, Neurology.

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.

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.

The spectrum of hearing loss due to mitochondrial DNA defects.

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

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

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

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.

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.

D. Turnbull, M. Johnson, L. Bindoff, 1997, American journal of human genetics.

Batteries not included: diagnosis and management of mitochondrial disease

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

Human Evolutionary Genetics: Origins, Peoples & Disease

P. Chinnery, D. Turnbull, S. Keers, 2004, Journal of Medical Genetics.

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.

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.

Systematic review of cognitive deficits in adult mitochondrial disease

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

Clinical Reasoning: Blurred vision and dancing feet

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

MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE

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

Transmission of mitochondrial DNA disorders: possibilities for the future

Dt Brown, M. Herbert, P. Chinnery, 2006, The Lancet.

Review: Mitochondria and disease progression in multiple sclerosis

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

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.

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

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

The mitochondrial genome and mitochondrial muscle disorders.

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

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.

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.

D. Turnbull, N. Howell, R. Lightowlers, 1993, The Journal of biological chemistry.

Review: Central nervous system involvement in mitochondrial disease

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

Aggregated α-synuclein and complex I deficiency: exploration of their relationship in differentiated neurons

D. Klenerman, D. Turnbull, M. Horrocks, 2015, Cell Death and Disease.

Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations

I. McKeith, A. Khundakar, P. Hanson, 2016, Acta Neuropathologica Communications.

Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD

P. Ince, D. Turnbull, E. Blakely, 2001, Neurology.

A scale to monitor progression and treatment of mitochondrial disease in children

G. Uziel, J. Elson, J. Smeitink, 2006, Neuromuscular Disorders.

Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders.

D. Turnbull, M. Pourfarzam, D. Turnbull, 1994, Clinical chemistry.

Hyperemesis gravidarum and first trimester sagittal sinus thrombosis

D. Birchall, M. Baker, J. Hanley, 2008, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Peptide nucleic acid delivery to human mitochondria

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

Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England

D. Turnbull, M. Johnson, P. Shaw, 2001, Neurology.

In-vitro genetic modification of mitochondrial function.

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

Correction: no evidence of an association between the T16189C mtDNA variant and late onset dementia (Gibson et al)

P. Chinnery, J. Poulton, S. Das, 2004, Journal of Medical Genetics.

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

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

Mitochondrial disease in adults: A scale to monitor progression and treatment

D. Turnbull, P. Chinnery, J. Elson, 2006, Neurology.

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.

Leber hereditary optic neuropathy

P. Chinnery, D. Turnbull, P. Y. W. Man, 2002, Journal of medical genetics.

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

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

CSF antigliadin antibodies and the Ramsay Hunt syndrome

D. Turnbull, P. Chinnery, P. Reading, 1997, Neurology.

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

P. Chinnery, N. Howell, P. Griffiths, 2003, American journal of human genetics.

Random genetic drift determines the level of mutant mtDNA in human primary oocytes.

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

D. M. Turnbull, A. Pyle, M. Walker, 2008, Diabetologia.

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 measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation.

D. Turnbull, J. Leonard, A. Aynsley-Green, 1992, Clinica chimica acta; international journal of clinical chemistry.

Combined enzyme defect of mitochondrial fatty acid oxidation.

D. Turnbull, L. Bindoff, M. Pourfarzam, 1992, The Journal of clinical investigation.

The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase.

D. Turnbull, D. Turnbull, M. Birch-Machin, 1994, Biochimica et biophysica acta.

Mitochondrial DNA and disease.

D. Turnbull, P. Chinnery, D. Turnbull, 1998, The Netherlands journal of medicine.

The ischaemic lactate-ammonia test

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

NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy

D. Turnbull, M. Zeviani, P. Chinnery, 2002, Neurology.

The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head

D. Turnbull, M. Barron, P. Griffiths, 2004, British Journal of Ophthalmology.

Mitochondrial DNA mutations in the pathogenesis of human disease.

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

Genetic counseling and prenatal diagnosis for mtDNA disease.

D. Turnbull, P. Chinnery, N. Howell, 1998, American journal of human genetics.

Additional file 8: Table S4. of Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations

Alan J. Thomas, I. McKeith, A. Khundakar, 2016 .

Design and baseline characteristics of the Biomarkers Of Risk In Colorectal Cancer (BORICC) Follow-Up study: A 12+ years follow-up

J. Mathers, D. Turnbull, D. Bradburn, 2019, Nutrition and health.

The role of cytochrome c oxidase deficient hippocampal neurones in Alzheimer's disease

D. Turnbull, M. Johnson, P. Ince, 2002, Neuropathology and applied neurobiology.

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

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

Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation

M. Whittington, D. Turnbull, A. Trevelyan, 2009, Cell proliferation.

Ecthyma-like skin lesions caused by Staphylococcus aureus.

D. Turnbull, M. F. Parry, 1981, Archives of internal medicine.

Neuropathological and Histochemical Changes in a Multiple Mitochondrial DNA Deletion Disorder

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

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

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

Short-chain acyl-CoA dehydrogenase deficiency.

S. Yamaguchi, D. Turnbull, M. Kimura, 1990, Progress in clinical and biological research.