2010.

Rett Syndrome and Hanefeld variant:analysis of the molecular pathways common to both diseases

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Reference: Project5 Abstract: Rett syndrome and its variant “of Hanefeld” are caused by mutations that affect two different genes, respectively MeCP2 and CDKL5. The aim of this project is the systematic analysis of the gene expression profile of neurons lacking MeCP2 or CDKL5. From the comparison of the obtained data we can determine which pathways … Read more

New animal models for understandingof the role of MeCP2 and the development of approachespharmacological

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Reference: PROJECT1 Abstract: Objective: confirmed the reversibility of the syndrome Rett, a possible therapeutic approach could result by pharmacological modulation of molecular pathways regulated by MeCP2. In this project we will remove MeCP2 from cerebral cortex and hippocampus, areas in which they reside most of the cognitive and affective, to determine the “MeCP2 target genes” … 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

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

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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

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