Search for dissertations about: "neuromuscular disease"

Showing result 1 - 5 of 27 swedish dissertations containing the words neuromuscular disease.

  1. 1. Extraocular Muscles in Amyotrophic Lateral Sclerosis

    University dissertation from Umeå : Umeå universitet

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

    Abstract : 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. READ MORE

  2. 2. Myosin myopathy. A new disease entity

    University dissertation from Göteborg

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

    Abstract : 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. READ MORE

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

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

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

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

    University dissertation from Umeå : Umeå universitet

    Author : Vahid M. Harandi; Umeå universitet.; Umeå universitet.; [2016]
    Keywords : 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;

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

  5. 5. Muscle diseases with damaged sarcomeres - causes and consequences

    University dissertation from Umeå : Umeå universitet

    Author : Monica Ohlsson; Göteborgs universitet.; Gothenburg University.; [2011]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; congenital myopathy; nemaline myopathy; cap disease; hereditary myopathy with early respiratory failure; myofibrillar myopathy; ACTA1; TPM2; TPM3; TTN;

    Abstract : Muscle diseases, also called myopathies, are usually defined as diseases where the pathology is confined to the muscle itself. This excludes diseases caused by structural abnormalities in the peripheral nerve, from the anterior horn cell to the neuromuscular junction. READ MORE