Found: 77
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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
- By:
- Publication type:
- Article
Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation.
- Published in:
- 2015
- By:
- Publication type:
- case study
Adult-onset myoclonus ataxia associated with the mitochondrial m.8993 T> C ' NARP' mutation.
- Published in:
- Movement Disorders, 2015, v. 30, n. 10, p. 1432, doi. 10.1002/mds.26358
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- 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
Triplex real-time PCR-an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells.
- Published in:
- Scientific Reports, 2015, p. 9906, doi. 10.1038/srep09906
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- Publication type:
- Article
Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study.
- Published in:
- Pulmonary Circulation, 2018, v. 8, n. 2, p. 1, doi. 10.1177/2045894018768290
- By:
- 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
Variation in the calpain-10 gene affects blood glucose levels in the British population.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Mitochondrial DNA mutations in human disease.
- Published in:
- 2005
- By:
- Publication type:
- journal 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
Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 17, p. 4612, doi. 10.1093/hmg/ddu176
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- Publication type:
- Article
Mitochondrial DNA deletions in muscle satellite cells: implications for therapies.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 23, p. 4739, doi. 10.1093/hmg/ddt327
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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
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
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
The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction.
- Published in:
- 2019
- By:
- Publication type:
- journal 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
Linking the metabolic state and mitochondrial DNA in chronic disease, health, and aging.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Linking the Metabolic State and Mitochondrial DNA in Chronic Disease, Health and Aging.
- Published in:
- Diabetes, 2013, v. 62, n. 3, p. 672, doi. 10.2337/db12-1203
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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
Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls.
- Published in:
- 2020
- By:
- Publication type:
- Letter
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
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
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
Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1003082
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- Publication type:
- Article
Roles of Mitochondrial DNA Mutations in Stem Cell Ageing.
- Published in:
- Genes, 2018, v. 9, n. 4, p. 182, doi. 10.3390/genes9040182
- By:
- Publication type:
- Article
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
- 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
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
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
- By:
- Publication type:
- Article
Research into Policy: A Brief History of Mitochondrial Donation.
- Published in:
- 2016
- By:
- Publication type:
- Editorial
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
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
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
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
- By:
- Publication type:
- Article
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
- Published in:
- Scientific Reports, 2016, p. 30610, doi. 10.1038/srep30610
- By:
- 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
- By:
- Publication type:
- Article
Mitochondrial Dysfunction in Parkinson's Disease—Cause or Consequence?
- Published in:
- Biology (2079-7737), 2019, v. 8, n. 2, p. 38, doi. 10.3390/biology8020038
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 14, p. 7430, doi. 10.1093/nar/gkz472
- By:
- Publication type:
- Article