Sökning: "skeletal disorders"

Visar resultat 1 - 5 av 76 avhandlingar innehållade orden skeletal disorders.

  1. 1. Clinical and genetic studies of three inherited skeletal disorders

    Författare :Eva-Lena Stattin; Göran Roos; Niklas Dahl; Jaakko Ignatius; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal disorders; osteochondritis dissecans; ACAN-gene; multiple epiphyseal dysplasia; brachydactyly type A1; IHH-gene; Medical genetics; Medicinsk genetik; klinisk genetik; Clinical Genetics;

    Sammanfattning : Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. LÄS MER

  3. 2. Human Skeletal Muscle : a basic proteomic approach

    Författare :Jenny Hadrevi; Fatima Pedrosa-Domellöf; Högskolan i Gävle; []
    Nyckelord :;

    Sammanfattning : The trapezius is a muscle of clinical interest due to its susceptibility to chronic work related musculoslteletal disorders. The mechanisms underlying these conditions are not fully understood. LÄS MER

  4. 3. Ultrasonic Quantification of Skeletal Muscle Dynamics : Feasibility and Limitations

    Författare :Frida Lindberg; Lars-Åke Brodin; Christer Grönlund; Tomas Jansson; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; ultrasound; skeletal muscle; intramuscular; dynamics; Tissue Doppler Imaging; Speckle Tracking; strain; quantification;

    Sammanfattning : Pain and disorders of the human skeletal muscles are one of the most common reasons for medical consultations in the western countries today and there is a great need to improve both the understanding and treatment of several different muscular conditions.Techniques describing the muscle function in vivo are often limited by either their invasiveness or lack of spatial resolution. LÄS MER

  5. 4. Neuromuscular disorders in childhood. Epidemiology and characterization of a new myopathy

    Författare :Niklas Darin; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuromuscular disorders; epidemiology; mitochondrial encephalomyopathy; hereditary inclusion-body myopathy; myosin heavy-chain IIa; childhood;

    Sammanfattning : Neuromuscular disorders can be subdivided into anterior horn cell disorders, neuropathies, myasthenic disorders and myopathies. Some multisystem disorders, such as myotonic dystrophy and mitochondrial encephalomyopathies, are traditionally also included. LÄS MER

  7. 5. Two new disorders of glycogen metabolism

    Författare :Johanna Nilsson; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Glycogen; Glycogenin; Glycogenosis; Glycogen storage disease; Glycosylation; Mass spectrometry;

    Sammanfattning : Glycogen is a polymer of glucose and serves as a source of rapidly available energy. Glycogen synthesis is initiated by autoglucosylation of glycogenin. Two glycogenin genes, GYG1 and GYG2, encode the two isoforms glycogenin-1 and -2, respectively. LÄS MER