Participatory research into quality of life of adults with intellectual disabilities

Reference: 57000005 Abstract: This is a summary of the request. The Governor Kremers Centre (GKC) started in 2002 as a corporate initiative of service providers and the academic chair on intellectual disability at Maastricht University. It is now aiming at extending and consolidating its activities as a consortium of Maastricht University, major service providers and … Read more

Identification of Genetic Risk Factors for Complex Disorders by Studying Patients with Associated Balanced Chromosomal Rearragements

Reference: NGFN2 Abstract: Associations between BCRs and disorders reported in the questionnaire are considered as probably real if the disorder co-segregates with the BCR in a family; if one breakpoint is located at a previously identified locus for the respective disorder; or if several unrelated patients with the same disorder have a breakpoint in the … Read more

Modulators of bio-aminergic pathways for the treatment of Rett syndrome

Reference: ANRn.a.8-BIOTn.a.020 Abstract: Rett syndrome (RS) is a severe neurological disorder caused by a mutation in the MECP2 gene transcriptional repressor. SR girls develop normally until 6-18 months later, they suffer neurological symptoms and severe respiratory ?irregularities. So far no treatment is available. Previously, using a mouse model of SR, we have shown that disruption … Read more

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