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Změny mitochondriálních funkcí u pacientů v manické fázi bipolární afektivní poruchy.
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- Ceská a Slovenská Psychiatrie, 2018, v. 114, n. 6, p. 244
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Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1182288
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Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 431, doi. 10.1038/ejhg.2013.148
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- Article
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F<sub>1</sub>F<sub>o</sub> ATP synthase deficiency.
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- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-38
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A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.
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- Genes, 2022, v. 13, n. 7, p. 1245, doi. 10.3390/genes13071245
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- Article
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
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- Nature Genetics, 2008, v. 40, n. 11, p. 1288, doi. 10.1038/ng.246
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- Article
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.
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- Prague Medical Report, 2017, v. 118, n. 2/3, p. 87, doi. 10.14712/23362936.2017.8
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- Article
Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.
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- Prague Medical Report, 2015, v. 116, n. 2, p. 73, doi. 10.14712/23362936.2015.48
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- Article
Disturbances of mitochondrial parameters to distinguish patients with depressive episode of bipolar disorder and major depressive disorder.
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- Neuropsychiatric Disease & Treatment, 2019, v. 15, p. 233, doi. 10.2147/NDT.S188964
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The relationship of mitochondrial dysfunction and the development of insulin resistance in Cushing's syndrome.
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- Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2019, v. 12, p. 1459, doi. 10.2147/DMSO.S209095
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- Article
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 766, doi. 10.3390/brainsci10110766
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- Article
Mitochondrial Dysfunction in a High Intraocular Pressure-Induced Retinal Ischemia Minipig Model.
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- Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101532
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- Article
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
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- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 336, doi. 10.1093/brain/awu355
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- Article
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
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- Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 937, doi. 10.3390/jcm9040937
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- Article
Coenzyme Q10: A Biomarker in the Differential Diagnosis of Parkinsonian Syndromes.
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- Antioxidants, 2023, v. 12, n. 12, p. 2104, doi. 10.3390/antiox12122104
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- Article
New-Generation Heterocyclic Bis-Pentamethinium Salts as Potential Cytostatic Drugs with Dual IL-6R and Mitochondria-Targeting Activity.
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- Pharmaceutics, 2022, v. 14, n. 8, p. 1712, doi. 10.3390/pharmaceutics14081712
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- Article