Sökning: "neuromuscular disease"

Visar resultat 1 - 5 av 53 avhandlingar innehållade orden neuromuscular disease.

  1. 1. Extraocular Muscles in Amyotrophic Lateral Sclerosis

    Detta är en avhandling från Umeå : Umeå universitet

    Författare :Anton Tjust; Umeå universitet.; Umeå universitet.; [2017]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; EOM; Satellite cells; innervation; neuromuscular disease; neurodegenerative disease; anatomi; Human Anatomy;

    Sammanfattning : Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease of motor neurons characterized by muscle paralysis and death within 3-5 years of onset. However, due to unknown mechanisms, the extraocular muscles (EOMs) remain remarkably unaffected. LÄS MER

  2. 2. Myosin myopathy. A new disease entity

    Detta är en avhandling från Göteborg

    Författare :Homa Tajsharghi; Göteborgs universitet.; Gothenburg University.; [2003]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuromuscular disorders; Myosin myopathy; Myosin heavy chain; Myosin storage myopathy;

    Sammanfattning : By the discovery and characterization of two familial myopathies caused by mutations in myosin heavy chaingenes, we introduce a new entity within the field of neuromuscular disorders: Myosin myopathyThe first myopathy affected a family in western Sweden. Previous linkage analysis had located the gene tochromosome 17p13. LÄS MER

  3. 3. A Systems Biological Approach to Parkinson's Disease

    Detta är en avhandling från Stockholm : KTH Royal Institute of Technology

    Författare :Katharina F. Heil; KTH.; [2018]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parkinson s Disease; Neuroscience; Bioinformatics; Network Analysis; Datalogi; Computer Science;

    Sammanfattning : Parkinson’s Disease (PD) is the second most common neurodegenerative disease in the Western world. Itshows a high degree of genetic and phenotypic complexity with many implicated factors, various diseasemanifestations but few clear causal links. Ongoing research has identified a growing number of molecularalterations linked to the disease. LÄS MER

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Johannes Finnsson; Uppsala universitet.; [2016]
    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

  5. 5. A Muscle Perspective on the Pathophysiology of Amyotrophic Lateral Sclerosis Differences between extraocular and limb muscles

    Detta är en avhandling från Umeå : Umeå universitet

    Författare :Vahid M. Harandi; Umeå universitet.; Umeå universitet.; [2016]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuromuscular junctions; Extraocular muscles; Skeletal muscle; Neurotrophic factor; Wnt; Motor neuron disease; Amyotrophic lateral sclerosis; SOD1G93A mice; molekylärbiologi; Molecular Biology;

    Sammanfattning : Background: Amyotrophic lateral sclerosis (ALS) is a late-onset progressive neurodegenerative disorder. ALS has been traditionally believed to be primarily a motor neuron disease. LÄS MER