نتایج جستجو برای: a3243g 5kb

تعداد نتایج: 218  

Journal: :Human molecular genetics 2009
Michelina Iacovino Caroline Granycome Hiroshi Sembongi Monika Bokori-Brown Ronald A Butow Ian J Holt Joseph M Bateman

Maintenance of an intact mitochondrial genome is essential for oxidative phosphorylation in all eukaryotes. Depletion of mitochondrial genome copy number can have severe pathological consequences due to loss of respiratory capacity. In Saccharomyces cerevisiae, several bifunctional metabolic enzymes have been shown to be required for mitochondrial DNA (mtDNA) maintenance. For example, Ilv5 is r...

Journal: :Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2014

Journal: :Neurology 2005
Sheng-Horng Chung Shyr-Chyr Chen Wen-Jone Chen Chien-Chang Lee

A9-year-old boy presented with headache, vomiting, and leftward eye gaze deviation. On examination, left homonymous hemianopia, horizontal nystagmus, and anisocoric pupils were noted. Brain CT disclosed symmetric calcification in basal ganglia (figure A). Blood examination showed lactic academia. Further MRI revealed right occipito-temporo-parietal cortical hyperintensities (figure, B and C). M...

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