Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia
…, H Iwaki, HL Leonard, FP Grenn, JA Ruskey… - Brain, 2020 - academic.oup.com
Parkinson’s disease is a genetically complex disorder. Multiple genes have been shown to
contribute to the risk of Parkinson’s disease, and currently 90 independent risk variants have …
contribute to the risk of Parkinson’s disease, and currently 90 independent risk variants have …
[HTML][HTML] Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
Rapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during
REM sleep, is an early clinical symptom of alpha-synucleinopathies and defines a more …
REM sleep, is an early clinical symptom of alpha-synucleinopathies and defines a more …
SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease
…, Y Dauvilliers, RYJ Wu, JA Ruskey… - Movement …, 2019 - Wiley Online Library
Background SMPD1 (acid‐sphingomyelinase) variants have been associated with Parkinson's
disease in recent studies. The objective of this study was to further investigate the role of …
disease in recent studies. The objective of this study was to further investigate the role of …
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies
…, B Ouled Amar Bencheikh, JA Ruskey… - Annals of …, 2020 - Wiley Online Library
Objective The TMEM175/GAK/DGKQ locus is the 3rd strongest risk locus in genome‐wide
association studies of Parkinson disease (PD). We aimed to identify the specific disease‐…
association studies of Parkinson disease (PD). We aimed to identify the specific disease‐…
Investigation of autosomal genetic sex differences in Parkinson's disease
…, JR Gibbs, DG Hernandez, JA Ruskey… - Annals of …, 2021 - Wiley Online Library
Objective Parkinson's disease (PD) is a complex neurodegenerative disorder. Men are on
average ~ 1.5 times more likely to develop PD compared to women with European ancestry. …
average ~ 1.5 times more likely to develop PD compared to women with European ancestry. …
GBA variants in REM sleep behavior disorder: A multicenter study
L Krohn, JA Ruskey, U Rudakou, E Leveille… - Neurology, 2020 - AAN Enterprises
Objective To study the role of GBA variants in the risk for isolated REM sleep behavior disorder
(iRBD) and conversion to overt neurodegeneration. Methods A total of 4,147 individuals …
(iRBD) and conversion to overt neurodegeneration. Methods A total of 4,147 individuals …
Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson's disease: risk estimates and genotype-phenotype correlations
…, T Fay-Karmon, V Livneh, JA Ruskey… - Parkinsonism & related …, 2019 - Elsevier
Introduction The clinical characteristics of Parkinson's disease (PD) associated with both the
LRRK2 p.G2019S mutation and a GBA variant (LRRK2-GBA-PD) have not yet been …
LRRK2 p.G2019S mutation and a GBA variant (LRRK2-GBA-PD) have not yet been …
[HTML][HTML] Fine mapping of the HLA locus in Parkinson's disease in Europeans
…, YL Sosero, AAK Sreelatha, JA Ruskey… - npj Parkinson's …, 2021 - nature.com
We fine mapped the leukocyte antigen (HLA) region in 13,770 Parkinson’s disease (PD)
patients, 20,214 proxy-cases, and 490,861 controls of European origin. Four HLA types were …
patients, 20,214 proxy-cases, and 490,861 controls of European origin. Four HLA types were …
Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease
JA Ruskey, L Greenbaum, L Roncière, A Alam… - European journal of …, 2019 - Elsevier
… Author links open overlay panel Jennifer A. Ruskey a b , Lior Greenbaum c d e , Léanne
Roncière f , Armaghan Alam a , Dan Spiegelman a b , Christopher Liong g , Oren A. Levy g h , …
Roncière f , Armaghan Alam a , Dan Spiegelman a b , Christopher Liong g , Oren A. Levy g h , …
Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease
Background Biallelic PRKN mutation carriers with Parkinson's disease (PD) typically have
an earlier disease onset, slow disease progression, and, often, different neuropathology …
an earlier disease onset, slow disease progression, and, often, different neuropathology …