Search for dissertations about: "disease gene"
Showing result 11 - 15 of 2156 swedish dissertations containing the words disease gene.
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11. Metabolomics studies of ALS : a multivariate search for clues about a devastating disease
Abstract : Amyotrophic lateral sclerosis (ALS), also known as Charcot’s disease, motor neuron disease (MND) and Lou Gehrig’s disease, is a deadly, adult-onset neurodegenerative disorder characterized by progressive loss of upper and lower motor neurons, resulting in evolving paresis of the linked muscles. ALS is defined by classical features of the disease, but may present as a wide spectrum of phenotypes. READ MORE
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12. Novel strategies for enzyme replacement with gene therapy in models of Parkinson’s disease
Abstract : Parkinson’s disease is a brain disorder characterized by loss of dopaminergic neurons in the midbrain, resulting in the characteristic motor symptoms: resting tremor, rigidity, akinesia and postural instability. Symptomatic treatment is based on reconstituting the loss of dopamine in the brain, primarily by oral administration of its precursor L-DOPA. READ MORE
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13. Mitochondria in Alzheimer's Disease : The Presequence Protease and Mitochondria-Associated ER Membranes
Abstract : Alzheimer’s disease (AD) is one of the most prevalent age-related neurodegenerative disorders and the accumulation of the amyloid-β peptide (Aβ) in the temporal lobe has been implicated in the pathology of AD. Synaptic transmission in neuronal cells is a highly energy dependent process, which relies on the presence and proper function of mitochondria. READ MORE
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14. Genetic Variations in Type 2 Diabetes and Cardiovascular Disease: A Focus on Gene-Lifestyle Interactions and Mendelian Randomization
Abstract : Type 2 diabetes (T2D) and cardiovascular disease (CVD) are highly prevalent complex diseases that result from lifestyle and genetic factors. Gene-lifestyle interactions are also believed to contribute to the etiology of these diseases. READ MORE
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15. Genetic studies on Systemic Lupus Erythematosus : A fine mapping and candidate gene approach
Abstract : Linkage in the 2q37 region was evaluated using microsatellite markers in multi-case families from Sweden, Iceland and Norway. Both the two-point and the multipoint linkage analysis show highly significant LOD scores (Z=4.51 and 6.03, respectively). READ MORE