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Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41531-021-00182-x
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- Publication type:
- Article
Automated quantitative high-throughput multiplex immunofluorescence pipeline to evaluate OXPHOS defects in formalin-fixed human prostate tissue.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10588-z
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- Publication type:
- Article
Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.594223
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- Publication type:
- Article
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 6, p. 1, doi. 10.15252/emmm.201708262
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- Publication type:
- Article
The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction.
- Published in:
- 2019
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- Publication type:
- journal article
Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations.
- Published in:
- Journal of Pathology, 2018, v. 246, n. 4, p. 427, doi. 10.1002/path.5156
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- Publication type:
- Article
The genetics and pathology of mitochondrial disease.
- Published in:
- Journal of Pathology, 2017, v. 241, n. 2, p. 236, doi. 10.1002/path.4809
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- Publication type:
- Article
Distinctive Features of Orbital Adipose Tissue (OAT) in Graves' Orbitopathy.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 23, p. 9145, doi. 10.3390/ijms21239145
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- Publication type:
- Article
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 11, p. 5313, doi. 10.1093/nar/gkw382
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- Publication type:
- Article
The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.
- Published in:
- Kidney International, 2015, v. 87, n. 3, p. 610, doi. 10.1038/ki.2014.297
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- Publication type:
- Article
Research into Policy: A Brief History of Mitochondrial Donation.
- Published in:
- 2016
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- Publication type:
- Editorial
Mitochondrial DNA and disease.
- Published in:
- Journal of Pathology, 2012, v. 226, n. 2, p. 274, doi. 10.1002/path.3028
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- Publication type:
- Article
What causes mitochondrial DNA deletions in human cells?
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 275, doi. 10.1038/ng.f.94
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- Publication type:
- Article
Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA<sup>−/−</sup> mice.
- Published in:
- Scientific Reports, 2016, p. 31907, doi. 10.1038/srep31907
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- Publication type:
- Article
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
- Published in:
- Scientific Reports, 2016, p. 30610, doi. 10.1038/srep30610
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- Publication type:
- Article
Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease.
- Published in:
- Scientific Reports, 2016, p. 26013, doi. 10.1038/srep26013
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- Publication type:
- Article
No excess of mitochondrial DNA deletions within muscle in progressive multiple sclerosis.
- Published in:
- Multiple Sclerosis Journal, 2013, v. 19, n. 14, p. 1858, doi. 10.1177/1352458513490547
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- Publication type:
- Article
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.
- Published in:
- Genome Biology, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13059-020-02138-5
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- Publication type:
- Article
Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114462
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- Publication type:
- Article
Age related mitochondrial degenerative disorders in humans.
- Published in:
- Biotechnology Journal, 2008, v. 3, n. 6, p. 750, doi. 10.1002/biot.200800066
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- Publication type:
- Article
Mitochondrial DNA mutations in human disease.
- Published in:
- 2005
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- Publication type:
- journal article
Variant load of mitochondrial DNA in single human mesenchymal stem cells.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-71822-4
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- Publication type:
- Article
A national perspective on prenatal testing for mitochondrial disease.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1255, doi. 10.1038/ejhg.2014.35
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- Publication type:
- Article
Role of Mitochondria-Linked Fatty-Acid Uptake-Driven Adipogenesis in Graves Orbitopathy.
- Published in:
- Endocrinology, 2021, v. 162, n. 12, p. 1, doi. 10.1210/endocr/bqab188
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- Publication type:
- Article
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.
- Published in:
- Clinical Science, 2015, v. 128, n. 12, p. 895, doi. 10.1042/CS20140705
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- Publication type:
- Article
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.
- Published in:
- Epilepsia Open, 2018, v. 3, n. 1, p. 103, doi. 10.1002/epi4.12094
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- Publication type:
- Article
Spectrum of Movement Disorders in Mitochondrial Disorders: Reply.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 10, p. 1254, doi. 10.1001/jamaneurol.2016.2578
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- Publication type:
- Article
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 6, p. 668, doi. 10.1001/jamaneurol.2016.0355
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- Publication type:
- Article
Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease.
- Published in:
- Neuropathology & Applied Neurobiology, 2016, v. 42, n. 5, p. 477, doi. 10.1111/nan.12282
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- Publication type:
- Article
Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.
- Published in:
- Neuropathology & Applied Neurobiology, 2016, v. 42, n. 2, p. 180, doi. 10.1111/nan.12238
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- Publication type:
- Article
Mitochondrial and inflammatory changes in sporadic inclusion body myositis.
- Published in:
- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 288, doi. 10.1111/nan.12149
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- Publication type:
- Article
Disease progression in patients with single, large-scale mitochondrial DNA deletions.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 323, doi. 10.1093/brain/awt321
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- Publication type:
- Article
Microangiopathy in the cerebellum of patients with mitochondrial DNA disease.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1736, doi. 10.1093/brain/aws110
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- Publication type:
- Article
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. 62, doi. 10.1093/brain/awr326
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- Publication type:
- Article
Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 7, p. 1901, doi. 10.1093/brain/awr110
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- Publication type:
- Article
Mitochondrial DNA mutations affect calcium handling in differentiated neurons.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 787, doi. 10.1093/brain/awq023
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- Publication type:
- Article
Mitochondrial donation -- hope for families with mitochondrial DNA disease.
- Published in:
- Emerging Topics in Life Sciences, 2020, v. 4, n. 2, p. 151, doi. 10.1042/ETLS20190196
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- Publication type:
- Article
Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 826, doi. 10.1002/acn3.736
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- Publication type:
- Article
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 333, doi. 10.1002/acn3.532
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- Publication type:
- Article
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency.
- Published in:
- Nature Communications, 2016, v. 7, n. 8, p. 12317, doi. 10.1038/ncomms12317
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- Publication type:
- Article
Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.
- Published in:
- Brain Pathology, 2019, v. 29, n. 1, p. 97, doi. 10.1111/bpa.12640
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- Publication type:
- Article
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
- Published in:
- Annals of Neurology, 2022, v. 91, n. 1, p. 117, doi. 10.1002/ana.26260
- By:
- Publication type:
- Article
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Mitochondrial DNA Depletion in Respiratory Chain-Deficient Parkinson Disease Neurons.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 3, p. 481, doi. 10.1002/ana.22109
- By:
- Publication type:
- Article
Mitochondrial Mutations: Newly Discovered Players in Neuronal Degeneration.
- Published in:
- Neuroscientist, 2011, v. 17, n. 6, p. 645, doi. 10.1177/1073858411385469
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- Publication type:
- Article
Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-70885-3
- By:
- Publication type:
- Article
Mitochondrial dysfunction impairs osteogenesis, increases osteoclast activity, and accelerates age related bone loss.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68566-2
- By:
- Publication type:
- Article