Editorial Team Reference: Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: Italy Counry of funding source: Italy Funding organization: National Research Council Financing: NATIONAL FUNDINGS – 0 € hyperlink
Reference: Subproject to FZT 103 Abstract: This area of ??research focuses on genetic diseases that result in defects of synapse formation and function, which cause motor and cognitive deficits in Rett syndrome and as the associate autism.ﾠCause of Rett syndrome are encoded spontaneous mutations in X-linked MECP2 gene, the transcriptional regulator methyl-CpG binding protein 2 … Read more
Reference: RES-145-28-1003 Abstract: INTRODUCTION: MECP2 mutations are identifiable in ~80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. METHODS: We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome and were referred to Cardiff for molecular analysis but in whom an MECP2 mutation was not identifiable. Dosage analysis of MECP2 … Read more
Reference: RES-145-28-1003 Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: United Kingdom Counry of funding source: United Kingdom Funding organization: Economic and Social Research Council Shaping Society Financing: NATIONAL FUNDINGS – 0 € hyperlink
Reference: 73430 Abstract: The study design is the natural extension of our previous research works that had already been supported (www.humangenom.hu, www.eurosca.org). It is clear nowadays, that the functions of the carnitine are not restricted to the role of the oxidation of the long-chain fatty acids. The main direction of the planned research is the … Read more
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