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Showing result 1 - 5 of 1335 swedish dissertations matching the above criteria.

  2. 1. Models of Retinal Development and Disease

    Author : Minas Hellsand; Finn Hallböök; Emma Andersson; Department of Cell and Molecular Biology Karolinska Institutet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Developmental neurobiology; retinal organoids; retinoblastoma; MYCN; Stargardt disease; Bardet-Biedl syndrome; model systems;

    Abstract : For a model of a human disease to be valid and useful, it is important that key genotypic and phenotypic traits are shared between model system and human. The work in this thesis has been focused on generating new and characterizing spontaneous models of three genetic disorders affecting the retina: retinoblastoma, a childhood cancer with its origin in the fetal retina, Stargardt disease, a juvenile form of macular degeneration, and Bardet-Biedl syndrome, a pleiotropic ciliopathy featuring retinal degeneration. READ MORE

  4. 2. Psychiatric and metabolic disturbances in experimental models of Huntington’s disease

    Author : Sofia Hult Lundh; Translationell neuroendokrinologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Huntington’s disease; huntingtin; hypothalamus; depression; anxiety; metabolism; neuroendocrinology; mouse models; BACHD; rAAV vectors; leptin;

    Abstract : Non-motor symptoms and signs such as metabolic and psychiatric disturbances have been reported to occur early in Huntington’s disease (HD), a fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. However, there is a lack of understanding of the underlying neurobiological mechanisms responsible for the early non-motor features. READ MORE

  5. 3. Long Term Outcome and Prediction Models of Cognition, Activities of Daily Living and Nursing Home Placement in Alzheimer’s Disease with Cholinesterase Inhibitor Treatment

    Author : Carina Wattmo; Klinisk minnesforskning; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; longitudinal studies; nursing home placement; activities of daily living; cognition; Alzheimer s disease; cholinesterase inhibitors; disease progression; predictors; statistical models.;

    Abstract : Background Prospective longitudinal studies in Alzheimer's disease (AD) that include cholinesterase inhibitor (ChEI) treatment in routine clinical settings are scarce. The patients vary in severity of the disease, clinical course, rate of progression and response to treatment. READ MORE

  6. 4. Metabolomics studies of ALS : a multivariate search for clues about a devastating disease

    Author : Anna Wuolikainen; Peter M Andersen; Henrik Antti; Stefan L Marklund; Thomas Moritz; Thomas Hankemeier; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyotrophic lateral sclerosis ALS ; motor neuron disease; Lou Gehrig’s disease; human disease; CSF; biomarkers; metabolomics; metabonomics; chemometrics; design of experiments; multivariate analysis.; Neurology; Neurologi; Neurology; neurologi;

    Abstract : Amyotrophic lateral sclerosis (ALS), also known as Charcot’s disease, motor neuron disease (MND) and Lou Gehrig’s disease, is a deadly, adult-onset neurodegenerative disorder characterized by progressive loss of upper and lower motor neurons, resulting in evolving paresis of the linked muscles. ALS is defined by classical features of the disease, but may present as a wide spectrum of phenotypes. READ MORE

  7. 5. Genetic Characterization of Chicken Models for Autoimmune Disease

    Author : Anna-Stina Sahlqvist; Olov Ekwall; Olle Kämpe; Leif Andersson; Susanne Kerje; Holger Luthman; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Autoimmune disease; Hashimoto’s thyroiditis; systemic sclerosis; comparative genomics; linkage analysis; OS chickens; spontaneous autoimmune thyroiditis; UCD-200 chickens.; Molekylär medicin; Molecular Medicine;

    Abstract : Autoimmune diseases are endemic, but the disease mechanisms are poorly understood. A way to better understand these are to find disease-regulating genes. However, this is difficult as the diseases are complex, with several genes as well as environmental factors influencing the development of disease. READ MORE