Sharon Hassin‐Baer

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.

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.

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.

Overconfidence in visual perception in Parkinson's disease

This study finds that Parkinson's disease patients are overconfident in their visual perception despite normal visual motion discrimination abilities.

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.

Lack of evidence for genetic association of saposins A, B, C and D with Parkinson disease

The paper examines genetic associations of saposins A, B, C, and D with Parkinson's disease using SKAT-O and GWAS analyses, finding no significant associations.

Prevalence of RFC1-Mediated Spinocerebellar Ataxia in a United States Ataxia Cohort

The paper evaluates the prevalence of RFC1 and DAB1 repeat expansions in an undiagnosed ataxia cohort, finding biallelic RFC1 expansions in 2.7% of patients.

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.

Visual self-motion cues are impaired in Parkinson's disease yet over-weighted during visual-vestibular integration

This study investigates self-motion perception in Parkinson's disease, finding impaired visual perception and over-weighting of visual cues during integration.

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.