Sökning: "neuromuscular disease"

Visar resultat 1 - 5 av 48 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; Human Anatomy; anatomi;

    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. 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

  4. 4. 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

  5. 5. Studies on ventilatory function in chronic neuromuscular disorders

    Detta är en avhandling från Stockholm : Karolinska Institutet, Department of Clinical Neuroscience

    Författare :Jan Weinberg; Karolinska Institutet.; Karolinska Institutet.; [1999]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ventilatory dysfunction; neuromuscular disorders; diaphragm; electromyogram; power spectrum; blood gas; ventilatory mechanics; sleep; polysomnography;

    Sammanfattning : Ventilatory dysfunction is common in neuromuscular disorders (NMD). The present studies aimed at evaluating and developing methods for diagnosis of ventilatory function in NMD. Methods included were diaphragmatic EMG (EMGdi), blood gas monitoring assessed at rest and during exercise and nocturnal respiratory and sleep parameters. LÄS MER