Search for dissertations about: "leukodystrophy mri"

Found 2 swedish dissertations containing the words leukodystrophy mri.

  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. Radiological studies of LMNB1-related autosomal dominant leukodystrophy and Marinesco-Sjögren syndrome

    Author : Johannes Finnsson; Raili Raininko; Eva Kumlien; Isabella Björkman-Burtscher; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Leukoencephalopathies; hereditary central nervous system demyelinating diseases; autonomic dysfunction; adult-onset; neuromuscular disease; pediatric; neuro-ophtalmology; ataxia;

    Abstract : There are approximately 6000 to 8000 rare diseases, each with a prevalence of less than 1 / 10 000, but in aggregate affecting 6 to 8% of the population. It is important to evaluate disease development and progression to know the natural course of any disease. READ MORE