Jennifer A. Ruskey

The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis

This study finds the GBA1 p.E427K variant increases risk for synucleinopathies through a meta-analysis of case-control studies.

Genome-wide association study of REM sleep behavior disorder in Parkinson's disease

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

Genome-wide association study of glucocerebrosidase activity modifiers.

This study identifies genetic variants associated with glucocerebrosidase activity using GWAS in two cohorts, finding GBA1 variants and a novel association in the GAA locus.

Lack of association between G6PD variants and Parkinson's disease

This study investigates the association between G6PD variants and Parkinson's disease across six cohorts and finds no significant links for common or rare variants.

Lack of Epistatic Interaction of SNCA with APOE in Synucleinopathies

The paper investigates genetic interactions between SNCA and APOE in synucleinopathies using GWAS data and finds no significant epistatic interactions after multiple testing correction.

The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons

This study investigates the role of cathepsin B in Parkinson's disease by analyzing genetic variants and manipulating catB function in cell models to assess its impact on lysosomal activity and alpha-synuclein clearance.

Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?

This study investigates the association between rare SYNJ1 variants and Parkinson's disease, finding an association with both sporadic and early-onset cases.

NPC1 variants are not associated with Parkinson's disease, REM-sleep behaviour disorder or Dementia with Lewy bodies in European cohorts.

This study examines the association of NPC1 variants with Parkinson's disease, REM-sleep behavior disorder, and dementia with Lewy bodies in European cohorts and finds no significant associations.

Fine mapping of the HLA locus in Parkinson's disease in Europeans

This study fine maps the association between HLA genes and Parkinson's disease in Europeans, identifying specific amino acid variants in HLA-DRB1 that are protective against PD.

Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects

This study identifies five RBD risk loci through genome-wide association and finds differential expression of SNCA-AS1 and SCARB2 in brain regions.

Investigation of Autosomal Genetic Sex Differences in Parkinsons disease

This study investigates sex-specific genetic factors in Parkinson's disease using GWAS but finds no significant genetic differences between male and female cases.

Evidence for non-Mendelian inheritance in spastic paraplegia 7

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.

Association of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's Disease

This study sequenced five genes in PD patients and controls, finding no significant association with Parkinson's Disease after multiple comparisons.

Analysis of heterozygous PRKN variants and copy number variations in Parkinson's disease

This study examines the association between heterozygous PRKN variants and Parkinson's disease risk and onset, finding no significant associations.

Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinsons disease

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.

GBA variants in REM sleep behavior disorder: a multicenter study

This study investigates the association between GBA variants and risk for isolated REM sleep behavior disorder (iRBD) and conversion to neurodegeneration, finding higher prevalence and increased conversion rates in carriers.

Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies

This study identifies SNCA risk variants specific to RBD and overt synucleinopathies, finding distinct associations and opposite effects at the 3' end of SNCA.

Analysis of common and rare VPS13C variants in late onset Parkinson disease

The paper investigates the role of VPS13C variants in late-onset Parkinson disease, finding no significant association with rare variants but a nominal association with a haplotype.

Genetic modifiers of risk and age at onset in GBA associated Parkinson disease and Lewy body dementia

The paper identifies genetic modifiers of risk and age at onset in GBA-associated Parkinson disease and Lewy body dementia using large case-control datasets and genome-wide association studies.