Mihael Rogac

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BACKGROUND Autism spectrum disorders (ASDs) are caused by both genetic and environmental factors. Mitochondria act to connect genes and environment by regulating gene-encoded metabolic networks according to changes in the chemistry of the cell and its environment. Mitochondrial ATP and other metabolites are mitokines-signaling molecules made in(More)
Mutations in the gene encoding thymidine kinase 2 (TK2) result in the myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial encephalomyopathy presenting in children. In order to unveil some of the mechanisms involved in this pathology and to identify potential biomarkers and therapeutic targets we have investigated the gene(More)
We evaluated the functional outcome in a cohort of 22 children with mitochondrial diseases. The Pediatric Evaluation of Disability Inventory was administered and scaled scores determined. A large variability in functional skills was seen in all 3 assessed domains: Self-Care (46.4 ± 25.6 S.D.; median 42.4; range 11.8-100), Mobility (47.1 ± 30.4 S.D.; median(More)
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