Rett Disorder: The pre-regression period

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

Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of neuropsychiatric phenotypes that overlap

Reference: ORPHA319013 Abstract: Title: Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of overlapping neuropsychiatric phenotypes. Description: Since the discovery of MECP2 gene as mainly responsible for Rett Syndrome (SR) numerous studies have shown that there are mutations in this gene that does not produce the “classic”, but also in women … Read more

The Hanefeld variant and Gene CDLK5

Reference: Abstract: Defined as a neurodevelopmental disorder that affects specific maturational processes of nerve cells, the Rett syndrome (RTT) results in impaired brain development and a consequent severe deficiency of the organism.ᅠThe etiology of the syndrome is due to the alteration of the MECP2 gene or other genes linked to it, located on chromosome X.ᅠThis … Read more

The Voice of Rett

Reference: 3750 Marschik Peter Abstract: n.a PROJECT DETAILS  beginning: 2013. end: 2015. Country of research: Austria Counry of funding source: Austria Funding organization: Franz-Lanyar-Stiftung, Graz, Austria Financing: PRIVATE FUNDERS – 13 604 € hyperlink

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