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Found 5 swedish dissertations matching the above criteria.

  2. 1. Congenital muscular dystrophy with laminin α2 chain-deficiency. Initiation of disease and development of treatment

    Author : Zandra Körner; Muskelbiologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; muskeldystrofi; Muscular dystrophy; Autophagy; proteasome; Laminin; MDC1A;

    Abstract : Congenital muscle dystrophy type 1A (MDC1A) is a muscle disease caused bymutations in the LAMA2 gene, encoding the basement membrane protein lamininα2 chain. MDC1A patients exhibit neonatal onset of muscle weakness, progressivemuscle wasting and hypotonia, joint contractures that mostly affect elbows, hips,knees and ankles along with scoliosis and delayed motor milestones. READ MORE

  4. 2. Proteomic strategies for blood biomarker development in rare dystrophinopathies

    Author : Camilla Johansson; Cristina Al-Khalili Szigyarto; Ola Söderberg; KTH; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Duchenne muscular dystrophy; Becker muscular dystrophy; proteomics; affinity-proteomics; biomarkers; DIA-MS; SRM-MS; immunoassay; suspension bead arrays; Duchenne muskeldystrofi; Becker muskeldystrofi; proteomik; affinitetsproteomik; biomarkörer; DIA-MS; SRM-MS; immunoassay; suspension bead array; Biotechnology; Bioteknologi;

    Abstract : Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are two rare genetic disorders of the family dystrophinopathy. They are both caused by the lack of, or reduced production of, the protein dystrophin. READ MORE

  5. 3. Potential therapies and biomarkers for LAMA2-CMD. Does the microRNA hype deliver?

    Author : Bernardo Moreira Soares Oliveira; Muskelbiologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; muskeldystrofi; genetic-markers; Small non-coding RNAs;

    Abstract : Laminin α2 chain-deficient muscular dystrophy, or LAMA2-CMD, is a very severe disease caused by mutations in the LAMA2 gene. Skeletal muscle is the most affected tissue, with patients presenting symptoms such as hypotonia at birth, joint contractures and progressive muscle wasting. READ MORE

  6. 4. Living with deteriorating and hereditary disease : experiences over ten years of persons with muscular dystrophy and their next of kin

    Author : Katrin Boström; Gerd Ahlström; Berth Danermark; Anders Möller; Örebro universitet; []
    Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Social sciences; muscular dystrophy; chronic disease; ten year follow up; next of kin; ICF; activity; sickness impact; hereditary aspects; illness related problems; quality of life; multimethod; content analysis; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; Disability research; Handikappsforskning; Handikappvetenskap; Disability Science;

    Abstract : The overall aim of this thesis was to elucidate haw persona with muscular dystrophy (MD) and their next of kin experience and describe their daily lives over the last ten years. MD is a group of inherited disorders characterised by muscular weakness caused by muscle wasting. Both qualitative and quantitative methods were used. READ MORE

  7. 5. Fibromodulin and Dystrophin in Atherosclerosis: Novel roles for extracellular matrix in plaque development

    Author : Annelie Shami; Kärlväggsbiologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Atherosclerosis; fibromodulin; dystrophin; carotid artery; lipid accumulation; restenosis; plaque;

    Abstract : Cardiovascular disease represents nearly half the cases of noncommunicable diseases worldwide and is the leading global cause of death. The main underlying cause is atherosclerosis, and in atherosclerotic plaque progression the structure, composition and integrity of a dynamic extracellular matrix (ECM) is one very important factor. READ MORE