Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 4 of 4 for “"SNCA triplication"”.
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Effect of Parkinson’s disease-related alpha-synuclein abnormalities on the maturation of distinct iPSC-derived neuronal populations
… PD can be caused by genetic alternations in the SNCA gene encoding alpha-synuclein. Alpha-synuclein is primarily localised to neuronal presynaptic terminals and has been implicated in the maintenance of synaptic function. Studies have proposed that it regulates the docking, fusion, clustering and …
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Investigating in vitro Alpha-Synuclein Aggregation of Parkinson's Disease
… 129. In familial PD cases, mutations in the SNCA gene encoding α-syn are involved. Despite being recognised as a key neuropathological characteristic, the role of α-syn remains not fully understood. This protein exists in a highly heterogenous array of forms, ranging from fibrils observable …
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Derivation of next generation research models of Parkinson’s disease
… of the alpha-synuclein protein (encoded by the SNCA gene), in the surviving neurons. The precise molecular and cellular mechanisms governing PD's onset, progression, and pathology remain incompletely understood. The development of advanced research models is pivotal in unravelling the mysteries …
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Heredity in Parkinson's disease. From rare mutations to common genetic risk factors.
… 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. Thirty-five family members with parkinsonism were identified. They share a characteristic clinical subtype of …