Search for dissertations about: "Muscular dystrophy"

Showing result 6 - 10 of 39 swedish dissertations containing the words Muscular dystrophy.

  2. 6. 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. 7. Laminins and Congenital Muscular Dystrophy - From a Mouse Model to Gene Therapy of Laminin alpha2 chain deficiency?

    Author : Kinga Gawlik; Muskelbiologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; laminin; muscular dystrophy; gene therapy; Histology; cytochemistry; histochemistry; tissue culture; Histologi; cytokemi; histokemi; vävnadskultur; Genetics; cytogenetics; cytogenetik; Skeleton; muscle system; rheumatology locomotion; Skelett; muskelsystem; reumatologi; Genetik;

    Abstract : Gene therapy holds great promise for treating many genetic diseases, including muscular dystrophies. Mutations in the gene encoding laminin alpha2 chain ? an extracellular protein prominently expressed in the neuromuscular system ? cause a severe neuromuscular disorder: congenital muscular dystrophy type 1A (MDC1A). READ MORE

  5. 8. Bone Mineral Density Determination in Children. Evaluation of a novel method and application to Duchenne muscular dystrophy

    Author : Ann-Charlott Söderpalm; Göteborgs universitet; []
    Keywords : adolescents; age- and gender-matched; Becker; bone densitometry; bone markers; bone mineral density; calciotropic hormones; children; DXA; DXL; Duchenne; glucocorticoids; muscular dystrophy; normative; reference values; skeleton;

    Abstract : Aims: The overall aims of this thesis were to evaluate the dual-energy X-ray and laser (DXL) method for bone densitometry measurements of the calcaneus in children, to provide reference data for bone mineral density (BMD) in the heel bone in young children and to apply the DXL technique to patients with Duchenne muscular dystrophy (DMD) and conduct a survey about bone health of DMD patients. Study populations and methods: The DXL Calscan method was modified and adapted for measurements in children and applied to bone densitometry in all subsequent studies. READ MORE

  6. 9. The health economics of Duchenne muscular dystrophy

    Author : Erik Landfeldt; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease characterized by progressive muscle degeneration resulting in loss of independent ambulation, serious multisystem complications, and a mean life expectancy at birth of about 25 years. Several therapies are on the horizon for DMD and it has thus become urgent to better understand the health economic context of the disease to enable assessments of cost-effectiveness and inform decisions regarding reimbursement of new health technologies. READ MORE

  7. 10. Cell and molecular biology of muscular dystrophy

    Author : Ling Liu; Luciano Merlini; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Zoological Developmental Biology; zoologisk utvecklingsbiologi;

    Abstract : .... READ MORE