Reference: ORPHA 94817 Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: France Counry of funding source: France Funding organization: Ministry of Social Issues Financing: NATIONAL FUNDINGS – 0 € hyperlink
Reference: Abstract: Aims Rett syndrome (RTT) is a rare neurodevelopmental disorder frequently linked to methyl-CpG-binding protein 2 (MeCP2) gene mutations. RTT is associated with a 300-fold increased risk of sudden cardiac death. Rhythm abnormalities and cardiac dysautonomia do not to fully account for cardiac mortality. Conversely, heart function in RTT has not been explored to … Read more
Reference: Individual projects P19581 Abstract: The planned project is a continuation of our previous research on Rett syndrome, which first demonstrated that the development is noticeable in the first 6 months of life, in contrast to the previous doctrine.ﾠThe aim of the new project is the development of children with Rett syndrome from 6ﾠMonth (12 … Read more
Reference: Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: Italy Counry of funding source: Italy Funding organization: National Research Council Financing: NATIONAL FUNDINGS – 0 € hyperlink
Reference: R000238229 Abstract: Rett syndrome is a developmental disorder, almost exclusively affecting girls, which goes undetected in early infancy until a dramatic regression in development around 9-12 months. Although Rett syndrome is present from birth early signs of the disorder are difficult to detect. Family home videos, taken before the childﾒs problems were recognised, offer … Read more
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