Browsing Centre for Preventative Neurology by Author "Alcalay, RN"
Now showing items 1-3 of 3
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Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Blauwendraat, C; Reed, X; Krohn, L; Heilbron, K; Bandres-Ciga, S; Tan, M; Gibbs, JR; Hernandez, DG; Kumaran, R; Langston, R (2020-01-01)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 been identified by genome-wide association ... -
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Blauwendraat, C; Kia, DA; Pihlstrøm, L; Gan-Or, Z; Lesage, S; Gibbs, JR; Ding, J; Alcalay, RN; Hassin-Baer, S; Pittman, AM (Elsevier, 2017-12-20)SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public ... -
Investigation of Autosomal Genetic Sex Differences in Parkinson's disease.
Blauwendraat, C; Iwaki, H; Makarious, MB; Bandres-Ciga, S; Leonard, H; Grenn, FP; Lake, J; Krohn, L; Tan, M; Kim, JJ (2021-04-26)OBJECTIVE: Parkinson's disease (PD) is a complex neurodegenerative disorder. Males are on average ~ 1.5 times more likely to develop PD compared to females with European ancestry. Over the years genome-wide association ...