Sökning: "neuromuscular disease"

Visar resultat 1 - 5 av 64 avhandlingar innehållade orden neuromuscular disease.

  1. 1. Extraocular Muscles in Amyotrophic Lateral Sclerosis

    Författare :Anton Tjust; Fatima Pedrosa Domellöf; Mona Lindström; Thomas Brännström; Eva Hedlund; Umeå universitet; []
    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

  3. 2. Myosin myopathy. A new disease entity

    Författare :Homa Tajsharghi; Göteborgs universitet; []
    Nyckelord :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

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

    Författare :Katharina F. Heil; Jeanette Hellgren Kotaleski; Olivia Eriksson; J. Douglas Armstrong; Oksana Sorokina; Nigel Williams; KTH; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parkinson s Disease; Neuroscience; Bioinformatics; Network Analysis; Computer Science; Datalogi;

    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

  5. 4. New Biomarkers for Neuromuscular Function and Myasthenia Gravis

    Författare :Carl Johan Molin; Anna Rostedt Punga; Johan Widenfalk; Nils Hailer; Jan Verschuuren; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Biomarkers; myasthenia gravis; neuromuscular function; neurophysiology;

    Sammanfattning : Myasthenia gravis (MG) is an autoimmune disorder, which is caused by autoantibodies against the acetylcholine receptor (AChR). The cardinal symptom is muscle fatigue, which can range from slight weakness of the extraocular muscles (causing droopy eyelids or double vision), to paralysis of the respiratory muscles. 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