SA Schneider, RN Alcalay - Movement Disorders, 2017 - Wiley Online Library
Clinical–pathological studies remain the gold‐standard for the diagnosis of Parkinson's disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis …
Background Increasing evidence supports an extensive and complex genetic contribution to PD. Previous genome‐wide association studies (GWAS) have shed light on the genetic …
Lipids play a more significant role in Parkinson's disease and its related brain disorders than is currently recognized, supporting a “lipid cascade”. The 14 kDa protein α-synuclein (αS) is …
G Pal, G Mangone, EJ Hill, B Ouyang, Y Liu… - Annals of …, 2022 - Wiley Online Library
Objective This study was undertaken to compare the rate of change in cognition between glucocerebrosidase (GBA) mutation carriers and noncarriers with and without subthalamic …
RN Alcalay, OA Levy, CH Waters, S Fahn, B Ford… - Brain, 2015 - academic.oup.com
Glucocerebrosidase (GBA) mutations have been associated with Parkinson's disease in numerous studies. However, it is unknown whether the increased risk of Parkinson's disease …
H Xicoy, B Wieringa, GJM Martens - Cells, 2019 - mdpi.com
Parkinson's disease (PD) is a neurodegenerative disease characterized by a progressive loss of dopaminergic neurons from the nigrostriatal pathway, formation of Lewy bodies, and …
E Sidransky, G Lopez - The Lancet Neurology, 2012 - thelancet.com
Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosomal enzyme that is deficient in Gaucher's disease, are important and common risk factors for Parkinson's …
E Sidransky, MA Nalls, JO Aasly… - … England Journal of …, 2009 - Mass Medical Soc
Background Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease …
O Corti, S Lesage, A Brice - Physiological reviews, 2011 - journals.physiology.org
Parkinson's disease (PD) is a common motor disorder of mysterious etiology. It is due to the progressive degeneration of the dopaminergic neurons of the substantia nigra and is …