Search for dissertations about: "PARK2"

Found 3 swedish dissertations containing the word PARK2.

  2. 1. Heredity in Parkinson's disease. From rare mutations to common genetic risk factors

    Author : Andreas Puschmann; Sektion IV; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parkinson s disease; parkinsonism; genetics; alpha-synuclein; SNCA duplicaion; SNCA triplication; LRRK2; PARKIN; PARK2; VPS35; EIF4G1; rare variants; digenic inheritance; heritability;

    Abstract : This study investigated genetic causes of Parkinson's disease (PD) and parkinsonism in southern Sweden. The extensive Lister Family with parkinsonism caused by duplications and triplications of the gene for alpha-synuclein (SNCA) was studied. Clinical, genetic and genealogical data were compiled and evaluated. READ MORE

  4. 2. Unraveling genetic mechanisms in autism spectrum disorders

    Author : Anna Bremer; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by impairments in socialization and communication accompanied by repetitive and stereotypic behaviors. ASDs are highly heritable and heterogeneous with a complex genetic etiology. READ MORE

  5. 3. Genetic and Environmental Risk Factors in the Development of Obesity

    Author : Shafqat Ahmad; Genetisk och molekylär epidemiologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Lifestyle behaviors and genetic variation have clear and distinguishable effects on obesity risk; however, the pattern of disease occurrence within and between populations that differ in their genetic and environmental underpinnings suggests obesity is caused in part by the interaction between adverse lifestyle behaviors and the genetic risk profile of an individual. This thesis aims to investigate the joint effects of genetic and environmental (specifically lifestyle) risk factors for obesity and its comorbidities using cross-sectional and longitudinal epidemiological cohorts and clinical trials. READ MORE