Fulya Akçimen

This study conducts ancestry-specific and multi-ancestry GWAS of restless legs syndrome, identifying shared and ancestry-specific risk loci across African, Latin American, and European populations.

The paper characterizes the genetic landscape of Parkinson's disease in a Chilean cohort, identifying common pathogenic variants in LRRK2 and GBA1.

This study investigates the role of SORL1 genetic variants in AD, RD, and PD across diverse populations, identifying variants associated with risk but no significant cumulative effect.

The paper identifies FGF14 GAA repeat expansions in Parkinson's disease using long-read sequencing and finds they occur in both patients and controls.

This study identifies genetic variants associated with Parkinson's disease in African and African admixed populations, highlighting differences from European and Asian populations.

The paper identifies the LRRK2 p.A419V variant as a significant risk factor for Parkinson's disease in East Asian populations and explores its association with age of onset.

The paper identifies genes regulating alpha-synuclein homeostasis and shows their differential expression correlates with increased rare risk variant burden in Parkinson's disease.

This study identifies nine risk loci and two additional risk genes for restless legs syndrome through genome-wide association and transcriptome-wide analysis.

This study analyzes rare and common variants in ALS using French-Canadian data, finding that PRS and rare variants independently affect risk but do not interact significantly.

The paper investigates the association between STMN2 CA repeats and ALS risk using whole genome sequencing data and finds no significant association.

The paper investigates the inheritance pattern of SPG7 variants in hereditary spastic paraplegia, finding evidence of non-Mendelian inheritance including heterozygous variants and digenic/epistatic interactions.

This study overexpresses STK32B in human cerebellar cells and identifies differentially expressed genes and pathways potentially relevant to essential tremor.

This study identifies nine genetic loci associated with age at onset in Machado-Joseph disease, suggesting roles for DNA repair and synaptic pathways in disease progression.

The paper investigates RFC1 repeat expansions in ataxia cohorts, identifying novel repeat conformations and their potential pathogenicity.

The paper identifies increased FLT3 expression in the dorsolateral prefrontal cortex as associated with Tourette Syndrome through transcriptome-wide association study.

This study performs a transcriptome-wide association study (TWAS) of ADHD, identifying 9 significant hits and linking them to dopaminergic and norepinephrine pathways, as well as several phenotypes.

The paper integrates multi-omics data to identify genes and pathways associated with essential tremor, finding dysregulated genes and enriched pathways in cerebellar regions.