Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells - Wang, Hui; Chang, Timothy S.; Dombroski, Beth A.; Cheng, Po‐Liang; Si, Ya‐Qin; Tucci, Albert; Patil, Vishakha; Valiente‐Banuet, Leopoldo; Li, Chong; Farrell, Kurt; Mclean, Catriona; Molina‐Porcel, Laura; et al. (Movement disorders, 2025)
Keywords: 17q21.31; Aged; Chromosomes, Human, Pair 17 - genetics; copy number variations; DNA Copy Number Variations - genetics; Female; Gene Expression; Genetic Predisposition to Disease - genetics; H1 and H2 haplotypes; Haplotypes - genetics; Humans; Male; Middle Aged; Neurons - metabolism; progressive supranuclear palsy; single‐cell gene expression; Supranuclear Palsy, Progressive - genetics; 17q21.31; H1 and H2 haplotypes; copy number variations; single‐cell gene expression; progressive supranuclear palsy