Movement Disorders · 2012 · 145 citations · 18 references
Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease.
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Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
E. Sidransky, Mike A. Nalls, Jan Aasly et al. · New England Journal of Medicine · 2009 · 2.1K citations · Full text
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
Juliane Neumann, José Brás, Emma Deas et al. · Brain · 2009 · 685 citations · Full text
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
Matthew E. Gegg, Derek Burke, Simon Heales et al. · Annals of Neurology · 2012 · 560 citations · Full text