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As expected by the increased striatal DA, pathways signifying activation of signalling by G-protein-coupled receptors, transmission across chemical synapses and calcium signalling were all positively enriched at 3 months in iSPN + mut (Supplementary Table 1a), whereas genes associated with metabolic pathways such as oxidative phosphorylation (OxPhos) and respiratory electron transport ATP synthesis were significantly downregulated in iSPN + mut compared to iSPN+wt at 3 months (Fig

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Accordingly, we observed more male patients and fewer asymptomatic male carriers, whereas among females, this pattern was reversed, with more asymptomatic carriers than patients

doi: 10.1007/s12032-017-0907-4