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 …
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif… - autophagy, 2021 - Taylor & Francis
In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered …
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 …
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 …
Over the last two decades, we have witnessed a revolution in the field of Parkinson's disease (PD) genetics. Great advances have been made in identifying many loci that confer …
A Berardelli, GK Wenning, A Antonini… - European journal of …, 2013 - Wiley Online Library
Background A Task Force was convened by the EFNS/MDS‐ES Scientist Panel on P arkinson's disease (PD) and other movement disorders to systemically review relevant …
SYY Pang, PWL Ho, HF Liu, CT Leung, L Li… - Translational …, 2019 - Springer
Background Parkinson's disease (PD) is characterized by dopaminergic neuronal loss in the substantia nigra pars compacta and intracellular inclusions called Lewy bodies (LB). During …
Background GBA1 variants are among the most common genetic risk factors for Parkinson's disease (PD). GBA1 variants can be classified into three categories based on their role in …
Z Gan-Or, I Amshalom, LL Kilarski, A Bar-Shira… - Neurology, 2015 - AAN Enterprises
Objective: To better define the genotype-phenotype correlations between the type of GBA (glucosidase, beta, acid) mutation, severe or mild, and the risk and age at onset (AAO), and …