Browsing by Subject "Gaucher disease"

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Advances in GBA-associated Parkinson's disease: pathology, presentation and therapies

Barkhuizen, Melinda; Grobler, Anne F.; Anderson, David G. (Elsevier, 2016)

GBA mutations are to date the most common genetic risk factor for Parkinson's disease. The GBA gene encodes the lysomal hydrolase glucocerebrosidase. Whilst bi-allelic GBA mutations cause Gaucher disease, both mono- and ...
A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease

Barkhuizen, Melinda; Van der Westhuizen, Francois H.; Grobler, Anne F.; Anderson, David G. (Wiley, 2017)

Background The molecular basis of Parkinson's disease in South African population groups remains elusive. To date, substitutions in the GBA gene are the most common large-effect genetic risk factor for Parkinson's disease. ...