Reference: adrian bird Abstract: n.a PROJECT DETAILS beginning: 2004. end: 2010. Country of research: United Kingdom Counry of funding source: United Kingdom Funding organization: UK-based charities Financing: PRIVATE FUNDERS – 71 593 € hyperlink
Reference: Paton, Julian Abstract: Breathing abnormalities consisting of rapid deep respiration followed by cessation of breathing and an irregular interval between breaths are a common and distressing feature of Rett syndrome (RTT). Using a mouse model we have shown that injections of a compound that boosts the brain concentration of the inhibitory neurotransmitter ? amino-butyric … Read more
Reference: Orphan 0108 Abstract: n.a PROJECT DETAILS beginning: 2008. end: 2010. Country of research: Italy Counry of funding source: Italy Funding organization: Toscana Life Sciences Siena, Italia Financing: PRIVATE FUNDERS – 0 € hyperlink
Reference: Armstrong Abstract: Determine the pathogenicity of the mutations and polymorphisms detected in genes MECP2, CDKL5, FOXG1, NTNG1 i BDNF responsible for RTT in all patients clinically diagnosed as RTT and determine the clinical expression in patients (genotype-phenotype correlation). Objectives: – To study the genotype of patients with RTT you have not found a point … Read more
Reference: Project5 Abstract: Rett syndrome and its variant “of Hanefeld” are caused by mutations that affect two different genes, respectively MeCP2 and CDKL5. The aim of this project is the systematic analysis of the gene expression profile of neurons lacking MeCP2 or CDKL5. From the comparison of the obtained data we can determine which pathways … Read more
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