Sökning: "Marianne de Visser"

Hittade 1 avhandling innehållade orden Marianne de Visser.

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

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

    Sammanfattning : 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. LÄS MER