Sökning: "motor phenotype"

Visar resultat 6 - 10 av 67 avhandlingar innehållade orden motor phenotype.

  1. 6. Rare pediatric movement disorders : clinical aspects of genotype, phenotype, and assessment

    Författare :Annika Danielsson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Pediatric movement disorders are defined by an impaired ability to initiate and control movements. Dystonia, one of these disorders, may cause a life-long severe motor disability. Pharmacological treatment is often insufficient, but deep brain stimulation (DBS) has turned out to be effective for some dystonia subtypes. LÄS MER

  3. 7. Studies on the phenotype of LXRβ-/- mice : from malabsorption to amyotrophic lateral sclerosis

    Författare :Chiara Gabbi; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Liver X Receptors, LXRalpha and LXRbeta (NR1H2) are nuclear receptors belonging to the superfamily of ligand-activated transcription factors with a key role in the control of lipid and glucose metabolism. Studies of the phenotype of LXRalpha-/-mice and LXRbeta-/-mice have shown that these nuclear receptors have specific and distinct roles, although they share very high sequence homology (78%). LÄS MER

  4. 8. Turner syndrome. Relation between genotype and phenotype and long-term follow-up studies

    Författare :Mohamed Mostafa El-Mansoury; Göteborgs universitet; []
    Nyckelord :Turner syndrome; chromosome; cardiovascular disease; body balance; fracture; hearing; hypothyroidism; liver;

    Sammanfattning : Turner syndrome (TS) is a chromosomal disorder with a prevalence of approximately 1/2 500 live female births. There is complete or partial absence of one of the two sex chromosomes, resulting in a genetic constellation of 45,X monosomy or 45,X/46,XX mosaic, respectively. LÄS MER

  5. 9. Gene expresion in rodent spinal neuronal populations and their response to injury

    Författare :Jesper Ryge; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Motor neurons are the centre of convergence for all neural activity relating to movements. The activity integrated in the motor neurons is transmitted to appropriate muscles generating coordinated muscle contractions. LÄS MER

  7. 10. Daytime sleepiness in Parkinson's disease in relation to other symptoms, disease progression and daily life

    Författare :Arja Vehkala Höglund; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The aim of this doctoral thesis is to explore daytime sleepiness (DS) in Parkinson’s disease (PD). The Papers will evaluate how DS is connected to both motor and non-motor symptoms in PD, changes in DS over time, and the consequences of DS for the daily life of people with PD. LÄS MER