Sökning: "neuromuscular disease"

Visar resultat 6 - 10 av 64 avhandlingar innehållade orden neuromuscular disease.

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

   Författare :Vahid M. Harandi; Jingxia Liu; Fatima Pedrosa Domellöf; Per Stål; Fawzi Kadi; Umeå universitet; []
   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

3. 7. Genetic studies of zebrafish muscles : clues to protection in muscle disease

   Författare :Nils Dennhag; Fatima Pedrosa Domellöf; Jonas von Hofsten; Tatjana Haitina; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; zebrafish; muscle; extraocular muscles; intermediate filaments; bioinformatics; genetics; CRISPR Cas9; oftalmiatrik; ophthalmology; cellforskning; cell research;

   Sammanfattning : Muscular dystrophies (MDs) are caused by dysregulation of over 40 proteins but commonly share features of muscle weakness, myofiber death and regeneration, loss of ambulation and premature death. A MD involves a broken link anywhere in the connection from extracellular matrix through the sarcolemma to the sarcomere. LÄS MER

4. 8. Studies on ventilatory function in chronic neuromuscular disorders

   Författare :Jan Weinberg; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :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

5. 9. Molecular adaptations of skeletal muscle in health and disease

   Författare :Maja Schlittler; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Appropriate function of skeletal muscle is essential for locomotion, everyday activities and athletic performance. In addition to its mechanic tasks, skeletal muscle communicates with other organs via metabolic pathways and regulatory processes. LÄS MER

7. 10. Muscle diseases with damaged sarcomeres - causes and consequences

   Författare :Monica Ohlsson; Göteborgs universitet; []
   Nyckelord :congenital myopathy; nemaline myopathy; cap disease; hereditary myopathy with early respiratory failure; myofibrillar myopathy; ACTA1; TPM2; TPM3; TTN;

   Sammanfattning : 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. LÄS MER