Blar i UiS Brage på forfatter "Maple-Grødem, Jodi"
-
The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal
Berge-Seidl, Victoria; Pihlstrøm, Lasse; Maple-Grødem, Jodi; Forsgren, Lars; Linder, Jan; Larsen, Jan Petter; Tysnes, Ole-Bjørn; Toft, Harald Mathias Strøm (Journal article; Peer reviewed, 2017-09)Objective Coding variants in the GBA gene have been identified as the numerically most important genetic risk factors for Parkinson's disease (PD). In addition, genome-wide association studies (GWAS) have identified ... -
The possible role of SCARB2/LIMP-2 in Parkinson´s disease
Bru, Karina Fuglestein (Master thesis, 2021)Parkinson disease (PD) is a common neurodegenerative disease and associated with pronounced loss of dopaminergic (DA) neurons in a region of the brain. The disease has been found to be caused by a combination of genetic ... -
The value of cerebrospinal fluid alpha-synuclein and the tau/alpha-synuclein ratio for diagnosis of neurodegenerative disorders with Lewy pathology
Førland, Marthe Gurine; Tysnes, Ole-Bjørn; Aarsland, Dag; Maple-Grødem, Jodi; Pedersen, Kenn Freddy; Alves, Guido Werner; Lange, Johannes (Journal article; Peer reviewed, 2019-07)Background and purpose Parkinson's disease (PD), dementia with Lewy bodies (DLB) and Alzheimer's disease (AD) are three of the most common neurodegenerative disorders. Up to 20% of these patients have the wrong diagnosis, ... -
Validation and assessment of preanalytical factors of a fluorometric in vitro assay for glucocerebrosidase activity in human cerebrospinal fluid
Oftedal, Linn; Maple-Grødem, Jodi; Førland, Marthe Gurine; Alves, Guido Werner; Lange, Johannes (Peer reviewed; Journal article, 2020-12)Lysosomal dysfunction is an emerging feature in the pathology of Parkinson’s disease and Dementia with Lewy bodies. Mutations in the GBA gene, encoding the enzyme Glucocerebrosidase (GCase), have been identified as a genetic ...