Search for dissertations about: "Andreas Puschmann"

Found 2 swedish dissertations containing the words Andreas Puschmann.

  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. Biomarkers for diagnosis and prognosis in amyotrophic lateral sclerosis

    Author : Arvin Behzadi; Karin Forsberg; Anton E. Tjust; Anna Wuolikainen; Per Zetterström; Lars-Owe D. Koskinen; Andreas Puschmann; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; amyotrophic lateral sclerosis; biomarkers; neurofilaments; cytokines; troponin; cystatin C; Neurology; neurologi;

    Abstract : Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of upper and lower motor neurons, leading to paresis, muscle atrophy, and respiratory failure. ALS can be difficult to diagnose and prognosticate early. READ MORE