Sökning: "rett syndrome"

Visar resultat 6 - 10 av 11 avhandlingar innehållade orden rett syndrome.

  1. 6. Genetic studies of children with mental retardation

    Författare :Saideh Rajaei; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mental retardation; Rett syndrome; RTT; early onset infantile RTT; MECP2; SMR; SNP array; copy number variations; CNV; MECP2 duplication syndrom;

    Sammanfattning : Mental retardation (MR) is characterised by significant limitations in intellectual function and adaptive behaviour. It is estimated that MR affects up to 3% of the population in Europe. Patients with MR are an aetiologically heterogeneous group. Approximately 25-35% of the patients have a genetic diagnosis. LÄS MER

  3. 7. Downstream effects of master regulators in two brain diseases

    Författare :Sebastian Braun; Stamcellscentrum (SCC); []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rett syndrome; brain tumor development; gene regulation; neural stem cells; cell of origin; BMI1;

    Sammanfattning : In paper one, we investigated how the pharmacological activation and inhibition of the glucocorticoid system affects lifespan and symptoms in a mouse model for RTT. We performed a long-term drug treatment study with the GR activator corticosterone and the GR inhibitor RU486 under which we measured the lifespan and onset of RTT-like symptoms of male Mecp2-null and female Mecp2 heterozygous mice in comparison to untreated mutant and to treated and untreated wild-type animals. LÄS MER

  4. 8. Motor function over time in Rett syndrome-loss, difficulties and possibilities

    Författare :Gunilla Larsson; Umeå universitet; []
    Nyckelord :;

    Sammanfattning : .... LÄS MER

  5. 9. Genetic studies of neurological disorders : Rett syndrome and HD-like familial prion disease

    Författare :Fengqing Xiang; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Huntington s disease HD ; MECP2 gene; mutation; linkage analysis; prion disease; prion protein PrP ; Rett syndrome RTT ; X-chromosome inactivation XCI .;

    Sammanfattning : Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder, which almost exclusively affects females with a prevalence of 1 in 10 000-15 000, >99% of the cases are sporadic. It is commonly thought of as an X-linked dominant disorder lethal to males. LÄS MER

  7. 10. The role of substance P in respiratory control in the newborn : effects of morphine and nicotine

    Författare :Jonas Berner; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : We breathe in order to maintain oxygen, carbon dioxide and pH levels within the physiological range in response to the metabolic demands of the body. To achieve this, the respiratory control system is dependent on input from peripheral and/ central chemosensitive areas and on participation of different neuromodulator systems. LÄS MER