Construction of a notebook for multimedia communication in Rett syndrome

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

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

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

Mitochondrial dysfunction and cytosolic redox imbalance in Rett syndrome

Reference: Michael Müller Abstract: Rett patients and mouse models of Rett syndrome, i.e. mice carrying mutations in the gene coding for the transcriptional regulator MeCP2, suffer from highly irregular breathing with temporary arrest of breathing, which gives rise to repeated episodes of reduced systemic oxygen supply (hypoxia). Yet, instead of desensitization or neuronal adaptation to … Read more

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

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

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