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Orly Goldstein

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Open access Sep 2026

The Effect of LRRK2 and GBA1 Mutations on Survival in Early- and Late-Onset Parkinson's Disease.

BACKGROUND Mutations in the glucocerebrosidase 1 (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes are associated with Parkinson's disease (PD) phenotype. OBJECTIVE To asses the contribution of genetic status to long-term survival of patients with PD. METHODS A total of 2039 PD patients with Ashkenazi ancestry...

Raz Rubin, R. Alcalay, Nurit Omer et al. · 0 citations
Open access Jun 2026

Large-scale functional annotation establishes a reference framework for human LRRK2 variants

Functional effect sizes correlated with pathway activation in patient-derived immune cells, altogether providing a framework for ACMG-based variant interpretation in which kinase activation can support PS3 functional evidence for reclassification of variants.

Anthea Cheung, Neringa Pratuseviciute, Kirsten Black et al. · 0 citations

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