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Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutations in GBA has been reported in several different ethnic series with sporadic Parkinson's disease. In this study, we evaluated the(More)
Mutations in the glucocerebrosidase (GBA) gene have been implicated in increased formation of Lewy bodies (LBs) in Parkinson's disease (PD). We found GBA mutation status not to be significantly associated with the density of cortical LBs, after adjusting for sex, age at death, duration of PD and presence of dementia. Comparison of GBA carriers to PD(More)
synuclein RT-QuIC in the CSF of patients with alpha-synucleinopathies' Annals of Clinical and Translational General rights Copyright for the publications made accessible via the Edinburgh Research Explorer is retained by the author(s) and / or other copyright owners and it is a condition of accessing these publications that users recognise and abide by the(More)
Medical personnel in hospitals often works under great physical and mental strain. In medical decision making, errors can never be completely ruled out. Studies exposed that between 50 and 60 percent of adverse events could have been avoided through better organization, more attention or more effective security procedures. Critical situations especially(More)
We have developed a novel real-time quaking-induced conversion RT-QuIC-based assay to detect alpha-synuclein aggregation in brain and cerebrospinal fluid from dementia with Lewy bodies and Parkinson's disease patients. This assay can detect alpha-synuclein aggregation in Dementia with Lewy bodies and Parkinson's disease cerebrospinal fluid with(More)
Wnt ligands are palmitoylated glycoproteins that regulate essential aspects of early development, including embry-onic patterning, cell proliferation and cell fate determination. Wnts are secreted and bind to cell-surface heptahelical receptors termed "Frizzleds". To date 10 Friz-zled (Fzd) receptors have been identified in mice and men. Depending on the(More)
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