Article

Clinical and genetic association studies reveal within-individual variability as an integral part of Huntington disease

2024-05-20

Abstract excerpt

Huntington disease (HD) is one of the most common repeat expansion disorders. Clinically, HD patients exhibit considerable visit-to-visit variability in symptoms and signs independent of measuring method or rater, yet neither the precise nature nor the determinants of this clinical variability are known. Leveraging detailed genetic and longitudinal clinical data from large cohorts of HD patients, this work 1) est...

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Literature Corpus work: f47baacd-4029-563c-a0d1-1e4a6bb0af61
DOI: 10.1101/2024.05.20.24307629

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