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

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

Characterization of motor performance in patients with SR and evaluating the effectiveness of new tools orthotic

Reference: 8_ Dr.ᅠA.ᅠCosentino, Dr. B.ᅠMontagnana – Centre Don Calabria, Verona Abstract: This project aims initially to quantify and define the individual motor abnormalities, and then test the effectiveness of the proposed therapy. Specifically, this paper aims to differentiate and characterize the population instrumentally examined in terms of motor skills between subjects with residual powers to … Read more

Multifactorial analysis of the movement and the way in Rett syndrome

Reference: 4 Abstract: Rett syndrome (RTT) is a rare and complex factors for multiproblematicit? disabling. One of the main and most serious is the progressive loss of control of locomotor and gait, often affected by the presence of involuntary movements, dystonia, ataxia and spasticity. Only rarely treatment strategies used in the neuromotor pathologies infant may … 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.

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

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

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

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