2010.

Alteration of the mechanisms of oxidative stress and their treatment in an animal model of Rett syndromehe 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: 2 Abstract: This project was inspired by a series of preliminary results obtained by the proposer: It has established a unique relationship between mutations in the gene, the severity of the phenotype and the levels of some markers ZO, such as F2 isoprostanes and F4 and iron not bound to protein (NPBI) in plasma … Read more

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

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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

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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

Sleep disorders in Rett syndrome: a clinical study – polysomnography.

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Reference: 11_ Vignoli Abstract: The girls with RS, in analogy to what happens in other conditions of neurological disability, frequently have sleep disorders, mainly investigated through the use of questionnaires, being affected by specific sleep abnormalities characterized by intrusion of behavioral episodes such as laughing or screaming, sonniloquio, sleepwalking, bruxism and night terrors. There are … Read more

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