France – Page 3 – Rett syndrome research – projects, results and publications

Family outcomes

June 16, 2021June 29, 2015 by Editorial Team

Reference: Danijela Vlajic Abstract: The European Project for Rare Diseases National Plans Development (EUROPLAN) has addressed one unanswered question to date: ﾓwhat is the scope of patient-driven research?ﾔ Identification of needs and priorities for translational and social research, modes of fostering them and promotion of interdisciplinary cooperative approaches has been largely recommended. Beside the success … Read more

G?ne ARX et retard mental

June 16, 2021June 29, 2015 by Editorial Team

Reference: Jamel CHELLY ﾖ CHU Cochin ? Paris Abstract: n.a PROJECT DETAILS beginning: 2002. end: 2002. Country of research: France Counry of funding source: France Funding organization: FFRE fondation-epilepsie Financing: PRIVATE FUNDERS – 15 000 € 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

June 16, 2021June 29, 2015 by Editorial Team

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

Understand and address the deficits of neuronal transport in MeCP2-pathies

June 16, 2021June 29, 2015 by Editorial Team

Reference: ANR-12n.a.003-BSV1 Abstract: The MeCP2-pathies represent a field of particularly dynamic and competitive research in the field of intellectual disabilities related to the X chromosome Rett syndrome (RTT) is the prototype of these diseases and account for 10% of cases of mental retardation of genetic origin in women. The causative gene is Mecp2 encoding a … Read more

White – SVSE 1 – Physiology, pathophysiology, public health (White SVSE 1) 2012: Project ANTARES – Understand and address the deficits of neuronal transport in MeCP2-pathies

June 16, 2021June 29, 2015 by Editorial Team

Reference: ANR-12n.a.003-BSV1 Abstract: The MeCP2-pathies represent a field of particularly dynamic and competitive research in the field of intellectual disabilities related to the X chromosomeﾠRett syndrome (RTT) is the prototype of these diseases and account for 10% of cases of mental retardation of genetic origin in women.ﾠThe causative gene is Mecp2 encoding a multifunctional protein … Read more