Search for dissertations about: "Jimmy Sundblom"

Found 2 swedish dissertations containing the words Jimmy Sundblom.

  2. 1. Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease : Translational Studies of Two Neurogenetic Diseases

    Author : Jimmy Sundblom; Anja Smits; Raili Raininko; Niklas Dahl; Klas Kullander; Åsa Fex-Svenningsen; Marianne de Visser; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Inborn genetic diseases; Leukoencephalopathies; Lamin type B; Muscular disease; Caveolin 3; Neurology; Neurologi;

    Abstract : There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. READ MORE

  4. 2. Mapping the Huntington's disease process using cerebrospinal fluid analysis

    Author : Valter Niemelä; Anne-Marie Landtblom; Dag Nyholm; Jimmy Sundblom; Edward Wild; Uppsala universitet; []
    Keywords : Neurodegeneration; Huntingtons disease; Neurogenetics; Neuroinflammation; Neurofilament light; tau; Proenkephalin; Neurology; Neurologi;

    Abstract : Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder, caused by a CAG-repeat expansion in the HTT-gene. Today there are no disease-modifying therapies (DMTs), but several promising clinical trials are underway, including therapies that reduce mutant huntingtin expression. READ MORE