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Author Details

Douglass M Turnbull
Newcastle University
1980
631
109
PMIDPaper TitleJournal TitlePublished Year
37872380A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.Commun Biol2023
37589175Feasibility and impact of haplogroup matching for mitochondrial replacement treatment.EMBO Rep2023
34716721Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.Ann Neurol2022
35459777Automated quantitative high-throughput multiplex immunofluorescence pipeline to evaluate OXPHOS defects in formalin-fixed human prostate tissue.Sci Rep2022
35393351Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder.Open Heart2022
35552684Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocr Rev2022
35849052Dynamics of the most common pathogenic mtDNA variant m.3243Aâ¿¿>â¿¿G demonstrate frequency-dependency in blood and positive selection in the germline.Hum Mol Genet2022
36476932Uncoupling of energy production.Cell Metab2022
35233697A subcellular cookie cutter for spatial genomics in human tissue.Anal Bioanal Chem2022
34927673Forecasting stroke-like episodes and outcomes in mitochondrial disease.Brain2022
35192969Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry.Bone2022
34027632Interventions for promoting physical activity in people with neuromuscular disease.Cochrane Database Syst Rev2021
33626245Age-associated mitochondrial complex I deficiency is linked to increased stem cell proliferation rates in the mouse colon.Aging Cell2021
33842062Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study.Neurol Clin Pract2021
35121898Author Correction: Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis.Nat Cancer2021
34473251The Role of Mitochondria-Linked Fatty-Acid Uptake-Driven Adipogenesis in Graves Orbitopathy.Endocrinology2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34146515Mitochondrial disease in adults: recent advances and future promise.Lancet Neurol2021
33980828Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson's disease.NPJ Parkinsons Dis2021
34169319Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.Hum Mol Genet2021
31448495Systematic review of cognitive deficits in adult mitochondrial disease.Eur J Neurol2020
31781911Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls.Acta Neuropathol2020
31689514Investigation of mitochondrial biogenesis defects in single substantia nigra neurons using post-mortem human tissues.Neurobiol Dis2020
33363476Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse.Front Physiol2020
33073241Age-associated mitochondrial DNA mutations cause metabolic remodelling that contributes to accelerated intestinal tumorigenesis.Nat Cancer2020
32943091Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.Genome Biol2020
32573698Mitochondrial donation - hope for families with mitochondrial DNA disease.Emerg Top Life Sci2020
32969525Lower urinary tract dysfunction in adult patients with mitochondrial disease.Neurourol Urodyn2020
32680831When to think about mitochondrial disease.Pract Neurol2020
32589937Therapeutic Manipulation of mtDNA Heteroplasmy: A Shifting Perspective.Trends Mol Med2020
32646480Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies.Acta Neuropathol Commun2020
32671231Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses.Wellcome Open Res2020
32669663Mitochondrial dysfunction impairs osteogenesis, increases osteoclast activity, and accelerates age related bone loss.Sci Rep2020
32948797Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry.Sci Rep2020
32183956Assessment of mitochondrial respiratory chain enzymes in cells and tissues.Methods Cell Biol2020
32554091The feasibility of muscle mitochondrial respiratory chain phenotyping across the cognitive spectrum in Parkinson's disease.Exp Gerontol2020
32416058Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant Disease.Mol Ther2020
32277765Mitochondrial morphology and function: two for the price of one!J Microsc2020
32428418The rise and rise of mitochondrial DNA mutations.Open Biol2020
32220313Mitochondrial Diseases: Hope for the Future.Cell2020
30689758The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction.Brain2019
32090171Consensus-based statements for the management of mitochondrial stroke-like episodes.Wellcome Open Res2019
30021052Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.Brain Pathol2019
30098421Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.Mitochondrion2019
31240155Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients.JIMD Rep2019
31187502Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.Ann Neurol2019
30898183Effects of obesity and weight loss on mitochondrial structure and function and implications for colorectal cancer risk.Proc Nutr Soc2019
30801962A case-comparison study of pregnant women with mitochondrial disease - what to expect?BJOG2019
31147703Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.Nucleic Acids Res2019
31091381Mitochondrial Donation - Which Women Could Benefit?N Engl J Med2019
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Collaborators

Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 255
Patrick F Chinnery
School of Clinical Medicine, University of Cambridge
Co-authored papers 131
Robert McFarland
Newcastle University
Co-authored papers 91
Gr??inne S Gorman
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 74
Andrew M Schaefer
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 61
Yi Shiau Ng
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 36
Mark Walker
Co-authored papers 25
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 23
Andrew A M Morris
Alder Hey Children's NHS Foundation Trust
Co-authored papers 22
Patrick Yu-Wai-Man
University of Cambridge
Co-authored papers 16
David R Thorburn
Co-authored papers 12
David C Samuels
Vanderbilt University
Co-authored papers 8
Denise M Kirby
Co-authored papers 7
Hans Lassmann
Co-authored papers 7
Pamela J Shaw
Sheffield Institute for Translational Neuroscience, University of Sheffield
Co-authored papers 7
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 6
David J Burn
Population Health Sciences Institute, Newcastle University
Co-authored papers 6
Ronald G Haller
Co-authored papers 6
Alex Laude
Co-authored papers 5
Alan F Wright
Co-authored papers 5
Shamima Rahman
UCL Great Ormond Street Institute of Child Health
Co-authored papers 5
Kate Bushby
Institute of Genetic Medicine, International Centre for Life
Co-authored papers 4
Richard Reynolds
Co-authored papers 4
Thiloka Ratnaike
University of Cambridge
Co-authored papers 4
Janusz Jankowski
Co-authored papers 4
Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
Co-authored papers 4
Avan Aihie Sayer
Co-authored papers 3
Andrew T Hattersley
Co-authored papers 3
David A Mackey
Lions Eye Institute, University of Western Australia
Co-authored papers 3
William C Copeland
National Institute of Environmental Health Sciences, National Institutes of Health
Co-authored papers 3
Release 1.2