Mie Rizig

This study identifies genetic associations between lysosomal genes and Parkinson's disease risk across diverse populations using GWAS and whole genome sequencing data.

This study identifies genetic variants associated with REM sleep behavior disorder in Parkinson's disease and explores genetic correlations with neuropsychiatric traits.

This study compares polygenic risk scores for Parkinson's disease across seven ancestries, finding varying predictive accuracy and highlighting the need for ancestry-specific models.

The paper identifies a non-coding risk variant in GBA1 associated with Parkinson's disease in African ancestry populations, showing it disrupts splicing and reduces glucocerebrosidase activity.

The paper investigates the association between the non-coding GBA1 rs3115534 variant and REM sleep behavior disorder in Nigerians with Parkinson's disease.

Intronic GBA1 variant rs3115534-G, common in African and African admixed ancestry but rare elsewhere, raises Parkinson's disease risk (OR 1.58) and lowers onset age.

The paper examines MAPT haplotype frequencies in Nigerian Africans and finds no association between the H1 haplotype and Parkinson's disease risk or age at onset.

This paper reviews the lack of diversity in Parkinson's disease genetics research, highlighting underrepresentation of non-European populations and the need for more inclusive studies.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

The paper screens 12 rare LRRK2 variants in Nigerian Parkinson's patients and controls, finding none present in either group.

The paper examines DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease, finding no significant effect of DNM3 on age at onset but a possible interaction between LRRK2 and VAMP4.

This study identifies cell-type-specific expression of dystonia-associated genes and links them to shared genetic and biological mechanisms with psychiatric disorders.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.

The paper confirms the absence of the LRRK2 p.G2019S mutation in a larger Nigerian cohort of Parkinson's disease patients and controls, supporting its origin after human dispersal from sub-Saharan Africa.

The paper identifies molecular overlaps between malaria and Burkitt’s lymphoma and links artemisinin derivatives to shared pathways that could inform their anticancer potential.