GBA1 variants represent some of the most important genetic risk factors for Parkinson's disease (PD), present in a substantial proportion of patients across populations. This review provides a comprehensive overview of the field, tracing the historical path from the first description of Gaucher disease (GD) in 1882 to...
Z. Gan-or· Brain : a journal of neurolo...· 0 citations
Recent evidence suggests that TMEM106B expression is reduced in the brains of patients with Parkinson's disease (PD). However, an association between rare genetic variants in TMEM106B and PD risk has not been previously established. In this work, we investigated the association between rare TMEM106B variants and PD ris...
H. M. Chaparro-Solano, S. Kanagasingam, Z. Gan-or et al.· medRxiv· 0 citations
The present study reveals established and novel genetic modulators of potential α-synucleinopathy biomarkers, demonstrating that genetic background significantly shapes biomarker levels.
E. Somerville, Lang Liu, M. Ta et al.· Research Square· 0 citations
Rare variants in dystonia-related genes are not major contributors to overall PD risk, and signals observed in the EOPD subset require replication in larger cohorts.
S. Kanagasingam, S. C. Parlar, Lang Liu et al.· Movement Disorders· 0 citations
HippoGenes provides a framework for exploring the molecular organization of the hippocampus, opening avenues for multiscale integration in health and disease, and is openly available on https://hippogenes.readthedocs.io.
A. Ngo, Sara Larivière, J. Royer et al.· bioRxiv· 0 citations
