Remote digital testing offers a scalable framework to capture this early instability in iRBD and related phenotypes and precedes measurable linear decline across PD-risk stratified groups.
H. Chohan, S. Waters, L. Pérez-Carbonell et al.· medRxiv· 0 citations
Abstract Motivation Copy Number Variations (CNVs) play pivotal roles in complex disease etiology, often requiring large sample sizes to analyze disease associations. While genotyping arrays offer a cost-effective approach for CNV detection using Log R Ratio (LRR) and B Allele Frequency (BAF) signals, existing independe...
Nicole Kuznetsov, Kensuke Daida, M. Makarious et al.· Bioinformatics Advances· 0 citations
Burden analysis showed no association between rare variants in DNAJC13 and PD, however, association analysis within common nonsynonymous variants nominated five variants within DNAJC13, and these associations require further investigation.
C. Avila, M. Isayan, Y. Mecheri et al.· Movement Disorders· 0 citations
GCH1 pathogenic variants were associated with a clinically distinct phenotype characterized by earlier disease onset and slower progression of motor complications, suggesting that GCH1 genetic variants may serve as genetic biomarkers for patient stratification and prognosis in PD.
J. Shin, M. T. Periñán, J. W. Jang et al.· medRxiv· 0 citations
Significant transcriptomic overlap between PD and a range of clinically relevant traits is revealed, providing novel insights into disease biology with potential to improve disease prediction.
L. Gilchrist, O. Pain, S. Calhas et al.· medRxiv· 0 citations
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