Italy

Study of the action of the complex moderating ENA / VASP on synaptic defect induced by mutation of MeCP2 in neurons obtained from mice and induced pluripotent stem cells (iPSCs) derived from patients

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Reference: na Abstract: n.a PROJECT DETAILS  beginning: 2012. end: 2015. Country of research: Italy Counry of funding source: Italy Funding organization: AIRETT Financing: PRIVATE FUNDERS – 53 200 € hyperlink

Study of the causes of the defects of communication between nerve cells in patients with Rett Syndrome

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Reference: 3 Abstract: This study aims at understanding the causes and the ways that lead to the failure of small structures, dendritic spines, distributed on neurons in regions (synapses) in which nerve cells are approaching to communicate with each other. Rett Syndrome In this malfunction has a reversible and an irreversible phase . Specifically, the … Read more

Analysis of HLA genes to assess genetic susceptibility to vaccines as part of the pathogenesis of Rett syndrome.

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Reference: 5 Abstract: The acute phase of regression (6-12 months) of Rett syndrome coincides with the period of childhood vaccinations. Data that come both from our own experience and from the literature indicate that different RTT girls were initially classified as suffering from encephalopathy for damage caused by the vaccine (Moeschler JB, et al, 1988) … Read more

Epilepsy in Rett syndrome

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Reference: 5_M.ﾠPintaudi, Abstract: Rett syndrome (SR) is a rare disease that affects about 1/10000-15000 girls. Although epilepsy is present in about 80% of these patients, clinical studies investigating the characteristics of the crisis and the use and effectiveness of anti-epileptic drugs are scarce. The study aims to: Clinical study of epilepsy in the SR, the … Read more

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