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Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.494
Abstract: In 1983, Huntington's disease (HD) was the first genetic disease mapped using DNA polymorphisms. Shortly thereafter, presymptomatic genetic testing for HD began in the context of two research studies. One of these trials was at…
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Keywords:
genetic testing;
presymptomatic genetic;
huntington disease;
disease ... See more keywords
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Published in 2019 at "Brain"
DOI: 10.1093/brain/awz039
Abstract: Imaging biomarkers are needed to detect early brain changes in presymptomatic carriers harbouring FTD mutations. Using arterial spin labelling-MRI, Mutsaerts, Mirza et al. identify an inverse association between cerebral perfusion in frontotemporoparietal regions and expected…
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Keywords:
cerebral perfusion;
perfusion;
presymptomatic genetic;
changes presymptomatic ... See more keywords