mitokondriotaudit

name

• mitokondriotaudit

Works about mitokondriotaudit

• A study on genetic mutations involving mitochondrial disorders : a diagnostic approach and application of human iPSCs to understand disease pathogenesis
• Catalytic core of respiratory chain NADH-ubiquinone oxidoreductase : roles of the ND1, ND6 and ND4L subunits and mitochondrial disease modelling in Escherichia coli
• Childhood-onset mitochondrial diseases : with emphasis on molecular diagnostics of neurological disorders
• Complementation of cytochrome c oxidase deficiency by transgenic expression of the alternative oxidase in Drosophila
• Disorders of mitochondrial DNA polymerase : a clinical, biochemical and structural study
• Disturbances in mitochondrial DNA maintenance in neuromuscular disorders and valproate-induced liver toxicity
• Genetic and metabolic suppression of mitochondrial disease phenotype in Drosophila
• Genetic causes and risk factors associated with phenotypes occurring in mitochondrial disorders
• Genetic causes of mitochondrial complex I deficiency in children
• Mechanism and effects of mitochondrial DNA instability and copy number manipulation
• Mitochondrial disease in southwestern Finland : population-based molecular genetic and clinical studies
• Mitochondrial DNA sequence variation in Finnish patients with maternally inherited type 2 diabetes, epilepsy and mitochondrial disease : risk and novel mutations
• Mitochondrial helicase Twinkle in mtDNA copy number regulation and a late-onset disease model
• Mitokondriotaudit :
• New tools for mitochondrial disease diagnosis : FGF21, GDF15 and next-generation sequencing
• On glucose metabolism in patients with the m.3243A>G mutation
• The molecular background of severe mitochondrial respiratory chain deficiencies in children and adults, with special emphasis on mitochondrial cardiomyopathies
• Tissue-specific implications of mitochondrial DNA maintenance in health and disease