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- W4366990469 abstract "Neurodegenerative disorders associated with high basal ganglia iron are known by the overarching term of ‘NBIA’ disorders or ‘neurodegeneration with brain iron accumulation’. Discovery of their individual genetic bases was greatly enabled by the collection of DNA and clinical data in just a few centers. With each discovery, the remaining idiopathic disorders could be further stratified by common clinical, radiographic or pathological features to enable the next hunt. This iterative process, along with strong and open collaborations, enabled the discoveries of <i>PANK2, PLA2G6, C19orf12, FA2H, WDR45,</i> and <i>COASY</i> gene mutations as underlying PKAN, PLAN, MPAN, FAHN, BPAN, and CoPAN, respectively. The era of Mendelian disease gene discovery is largely behind us, but the history of these discoveries for the NBIA disorders has not yet been told. A brief history is offered here." @default.
- W4366990469 created "2023-04-27" @default.
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- W4366990469 date "2023-05-31" @default.
- W4366990469 modified "2023-10-14" @default.
- W4366990469 title "A Brief History of NBIA Gene Discovery" @default.
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- W4366990469 doi "https://doi.org/10.14802/jmd.23014" @default.
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