Skip to content
Log in
Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

S. C. Parlar

h-index 2 View on Semantic Scholar

We have 3 of 20 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Open access Aug 2026

Rare-Variant Burden Analysis of Dystonia Genes in Parkinson's Disease.

BACKGROUND Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. OBJECTIVE The aim was to examine whether rare variants in dystonia-related genes are associated with PD or early-onset PD (EOPD). METHODS We curated 44 dystonia-related genes using the Online Mendelian Inheritance in Man (OMIM) and the Movement Disorder Society report on hereditary dystonia. Whole-genome sequencing data from 5315 PD patients, including 300 EOPD patients, and 36,902 controls across the Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) and UK Biobank European cohorts were analyzed. Rare-variant burden analysis was performed using the optimized sequence kernel association test (SKAT-O) and MetaSKAT. RESULTS In the analyses of all PD patients, no association survived multiple-testing correction. Conversely, exploratory EOPD analyses identified five significant genes (ATP5MC3, DNAJC12, KMT2B, TBC1D24, TMEM151A); however, these signals were driven by small numbers of variants and were not robust to leave-one-variant-out analyses. CONCLUSIONS Rare variants in dystonia-related genes are not major contributors to overall PD risk. Signals observed in the EOPD subset require replication in larger cohorts. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

S. Kanagasingam, S. C. Parlar, Lang Liu et al. · 0 citations
Open access Aug 2026

No evidence of association between PGK1 variants and Parkinsons disease

Background An X-linked levodopa-responsive parkinsonism-epilepsy syndrome has been associated with PGK1, and the gene lies within the previously suspected PD locus PARK12. Objective To examine the association of common and rare PGK1 variants with PD. Methods We analyzed common and rare variants from Accelerated Medicines Partnership - Parkinsons Disease (AMP-PD) and UK Biobank (UKBB, total N=4,523 PD cases, 19,736 proxy cases, and 390,532 controls). To account for the X-linked location of PGK1, we used sex-stratified, combined regression models and optimized sequence Kernel association (SKAT-O) tests, followed by meta-analysis using MetaSKAT. Results We found no association between common or rare PGK1 variants and PD in sex-stratified or combined analyses, including after cross-cohort meta-analysis. Conclusion Although we did not find evidence supporting an association between PGK1 and PD, very rare pathogenic PGK1 variants may still contribute to syndromic parkinsonism. Future research could explore larger datasets to further examine this potential association.

L. V. Chifamba, S. C. Parlar, L. Liu et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.