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Visar resultat 1 - 5 av 7 avhandlingar som matchar ovanstående sökkriterier.

  1. 1. Amyotrophic lateral sclerosis (ALS) associated with superoxide dismutase 1 (SOD1) mutations in British Columbia, Canada : clinical, neurophysiological and neuropathological features

    Författare :Heather G. Stewart; Hiroshi Mitsumoto; Umeå universitet; []
    Nyckelord :ALS; SOD1; complete penetrance; incomplete penetrance; mis-diagnosis; upper motor neuron; clinical neurophysiology; transcranial magnetic stimulation; peristimulus time histogram; corticospinal pathway; cortical inhibition; cortical hyper-excitability;

    Sammanfattning : Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons and their supporting cells in the brain, brainstem and spinal cord, resulting in muscle paresis and paralysis including the bulbar (speech, chewing, swallowing) and respiratory muscles. The average age at onset is 55 years, and death due to respiratory failure occurs 2-5 years after symptom onset in ~ 85% of cases. LÄS MER

  3. 2. Study the role of patient-specific mutations by genetic disease modeling : From gene to function; A study to understand muscles

    Författare :Martin Dahl-Halvarsson; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Muscles; Myosin; MYH7; Myosin storage myopathy; Laing early-onset myopathy; Drosophila; TOR1A; DYT1; HCM; heart disease;

    Sammanfattning : Many genetic diseases inherited in a dominant fashion have a complex pathological pattern. TOR1A mediated Dystonia-1 (DYT1) is an example of incomplete penetrance, affecting only a third of the carriers. LÄS MER

  4. 3. Genetic analysis of autoimmune diseases using animal models : Mapping susceptibility genes for multiple sclerosis and rheumatoid arthritis

    Författare :Hai-Tao Yang; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Collagen induced arthritis CIA ; Experimental allergic encephalomyelities EAE ; Multiple sclerosis MS ; Quantitative trait loci QTL ; Rheumatoid arthritis RA ; Linkage analysis; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Autoimmune diseases such as rheumatoid arthritis and multiple sclerosis are common human diseasesaffecting 1% and 0.1% of the population respectively. These diseases are characterized by abnormal self-tolerance in the immune system and autoimmune reactions. LÄS MER

  5. 4. Genetic studies of children with mental retardation

    Författare :Saideh Rajaei; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mental retardation; Rett syndrome; RTT; early onset infantile RTT; MECP2; SMR; SNP array; copy number variations; CNV; MECP2 duplication syndrom;

    Sammanfattning : Mental retardation (MR) is characterised by significant limitations in intellectual function and adaptive behaviour. It is estimated that MR affects up to 3% of the population in Europe. Patients with MR are an aetiologically heterogeneous group. Approximately 25-35% of the patients have a genetic diagnosis. LÄS MER

  7. 5. Genetic predisposition for cancer : genes and genetic counseling

    Författare :Johanna Rantala; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Breast cancer accounts for one third of all female cancer cases worldwide. A hereditary component accounts for 10-15% of all breast and ovarian cancer cases. The overall aim of this thesis is to evaluate and improve genetic diagnostic and genetic counseling in hereditary cancer patients. LÄS MER