Sökning: "Leukodystrophy"

Visar resultat 1 - 5 av 6 avhandlingar innehållade ordet Leukodystrophy.

  1. 1. Identification of Candidate Genes in Four Human Disorders

    Författare :Malin Melin; Niklas Dahl; Anders Isaksson; Juha Kere; Uppsala universitet; []
    Nyckelord :Genetics; Ichthyosis; Leukodystrophy; Kostmann disease; Autism; Genetic disorders; Candidate gene; Genetik;

    Sammanfattning : The aim of this thesis has been to identify genes and gene regions underlying four different disorders. In papers I-IV, positional cloning methods, such as linkage, association and haplotype analysis have been used for the identification of genomic regions associated with the ichthyosis prematurity syndrome (IPS), adult-onset autosomal dominant leukodystrophy (ADLD) and Kostmann disease. LÄS MER

  3. 2. Generation of human astrocytes for disease modeling. A study based on stem cells, direct conversion and genome engineering to dissect the role of astrocytes in leukodystrophies

    Författare :Ella Quist; Lund Neurologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Astrocytes; Stem Cells; transcription factor programming; direct conversion; genome engineering; CRISPR Cas9; leukodystrophy;

    Sammanfattning : Astrocytes are one of the major cell types in the central nervous system and are indispensable for brain development and function. The human brain and human astrocytes have unique structures and functions that are not present in other animal species. LÄS MER

  4. 3. 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

  5. 4. Expression of sulfatide in rodent CNS - not only restricted to myelin

    Författare :Zarah Pernber; Göteborgs universitet; []
    Nyckelord :sulfatide; glycosphingolipid; neurons; astrocytes; immunohistochemistry; brain; metachromatic leukodystrophy;

    Sammanfattning : Sulfatide is an acidic glycosphingolipid and a component of myelin in the nervous system proposed to be involved in maintenance of the myelin structure and thereby its function. Sulfatide is also a commonly used marker for detection of oligodendrocyte progenitor cells in cultures as well as in tissues. LÄS MER

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

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

    Sammanfattning : 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. LÄS MER