Molecular pathology and functional interactions of the genes CDKL5 and MECP2: molecular and clinical consequences of the alteration of a neuro-biological networks

Reference: Universit? degli Studi dell’Insubria Abstract: n.a PROJECT DETAILS  beginning: 2010. end: 2011. Country of research: Italy Counry of funding source: Italy Funding organization: Fondazione Caripl Financing: PRIVATE FUNDERS – 260 000 € hyperlink

Creating an experimental modelreproducing a pathogenic mutation of MeCP2

Reference: Project3 Abstract: Objective: the majority of animal models of the syndrome Rett available today represent only part of what that actually happens in patients, because most patients are not deprived of the entire gene, but only a small portion of it, or even have change only one amino acid. This project has set itself … Read more

Production of neuronal cells from reprogrammed fibroblasts of patients with Rett Syndrome

Reference: 9_Renieri Abstract: Despite the intense scientific effort devoted by researchers around the world to study the molecular mechanisms at the basis of Rett, the obvious limitations due to the fact that the primary defect of the brain disease concerns have prevented until now the development of a good model on cells that represent the … Read more

Taking charge of rehabilitation in the SR and the first case of targeted rehabilitation project evaluation, follow-up and training

Reference: 10_Dr.ᅠM.ᅠRodocanachi – Medical Rehabilitation Centre responsible Istituto Don Calabria, Milan Abstract: In recent years, the advancement of Medical management in Rett syndrome has been important, especially in the form of day hospital admissions or shorter in some pediatric hospitals where the girls / girls were able to enjoy an adequate framework (growth and nutrition, … Read more

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