2008.

Study of the genetic differences between the classical form and the variant to preserved language of Rett Syndrome

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Reference: 1_Renieri Abstract: The preserved speech variant (Preserved Speech Variant, PSV) of Rett syndrome is characterized by a more favorable clinical course than the classical form (Zappella 1992). During the third stage, the PSV patients recover previously lost some skills: begin communicating with short sentences usually in the third person and observe an improvement in … Read more

Characterization of genetic and epigenetic mechanisms that are causative elements and / or amending the SR

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Reference: 2_Dr. S. Russian – Laboratory of Medical Genetics Institute Auxologico Milan Abstract: At the laboratories of the Institute of Molecular Genetics Auxologico Italian since 2001 is carried out diagnostics and research on Rett Syndrome. Over the years we have collected a series of 97 patients with a genetic defect known and many without defined … Read more

Construction of a notebook for multimedia communication in Rett syndrome

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Reference: 6_Prof.ﾠRA Fabio Abstract: The overall aim of the work is to build a multimedia notebook to help girls with Rett syndrome to follow a path that leads to alternative augmentative communication and the expression of individual needs. In this work we built two versions of the CAA, the first use of a structure with … Read more

Rett Disorder: The pre-regression period

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Reference: 325 Franz-Lanyar-Stiftung Abstract: n.a PROJECT DETAILS  beginning: 2007. end: 2008. Country of research: Austria Counry of funding source: Austria Funding organization: Franz-Lanyar-Stiftung, Graz, Austria Financing: PRIVATE FUNDERS – 1 200 € hyperlink

Therapeutic approaches of Rett syndrome: development of human cell models and high-throughput screening of chemical molecules in order to identify new subtsances likely to induce readthrough of a stop codon

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Reference: ANRn.a.6-MRARn.a.003 Abstract: Rett syndrome (RTT) is a neurodevelopmentale dominant X-linked disease affecting almost exclusively girls. Significant progress was the discovery of mutations in the MECP2 gene in over 90% of RTT patients. In recent years, we have developed a French consortium and determined the spectrum of mutations MECP2. We have shown that the four … Read more

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