Editorial Team

Clinical study of heterogeneity in a large cohort of patients with Rett syndrome using a molecular-biochemical approach.

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Reference: 3 Abstract: Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder that has an incidence of 1:10,000 people are female. Despite the identification of three genes involved (MECP2, CDKL5 and FOXG1), the pathogenesis of the syndrome is not known to date. The study presented here aims to: deepen the existing knowledge base of … Read more

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

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: 1 Abstract: The central hypothesis that there is a tendency to evaluate this project is that the mechanisms that regulate actin polymerization-dependent proteins of the ENA / VASP are able to modulate the effects of the mutation of MeCP2. In the case of positive results, then you might investigate whether a similar phenomenon also … 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

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

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