2008.

Rett syndrome: approach to nutrition and gastrointestinal disorders

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Reference: 4_ﾠDr. V.ﾠCarmine Abstract: The nutritional problems in the context of complex neurological conditions, involving different aspects, behavioral and neurological dysfunctions oromotorie closely. These include oropharyngeal dysfunction, sensory deficits, reduced mobility of the tongue, difficulty in chewing and swallowing food, in fact a reduced tone of the muscles of the head and neck may cause … Read more

Epilepsy in Rett syndrome

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Reference: 5_M.ﾠPintaudi, Abstract: Rett syndrome (SR) is a rare disease that affects about 1/10000-15000 girls. Although epilepsy is present in about 80% of these patients, clinical studies investigating the characteristics of the crisis and the use and effectiveness of anti-epileptic drugs are scarce. The study aims to: Clinical study of epilepsy in the SR, the … Read more

Training Project and collaboration with Dr. Meir Lotan * and an Italian team on rehabilitation in Rett Syndrome

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Reference: 7_Dr. M. Rodocanachi – Centre Don Calabria Milan. Abstract: On days 23-24 and 25 January 2009, at the Don Calabria Institute of Milan was held a meeting with Meir Lotan, specialist physiotherapist, Ph.D. at the University of Bergen – Norway, the Department of Master of Physiotherapy ‘ University of Tel Aviv. Work in Israel, … Read more

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

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

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