@article{discovery1380065,
          number = {2},
            year = {2013},
          volume = {28},
           title = {The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease},
         journal = {Movement Disorders},
           pages = {232 -- 236},
           month = {February},
        keywords = {Adult, Age of Onset, DNA, Databases, Genetic, European Continental Ancestry Group, Exons, Female, Gaucher Disease, Gene Frequency, Glucosylceramidase, Great Britain, Humans, Leukocytes, Lewy Body Disease, Male, Middle Aged, Molecular Sequence Data, Mutation, Open Reading Frames, Parkinson Disease, Protein-Serine-Threonine Kinases, Sequence Analysis, DNA, Ubiquitin-Protein Ligases, Young Adult},
            issn = {0885-3185},
          author = {Duran, R and Mencacci, NE and Angeli, AV and Shoai, M and Deas, E and Houlden, H and Mehta, A and Hughes, D and Cox, TM and Deegan, P and Schapira, AH and Lees, AJ and Limousin, P and Jarman, PR and Bhatia, KP and Wood, NW and Hardy, J and Foltynie, T},
             url = {http://dx.doi.org/10.1002/mds.25248},
        abstract = {Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD.}
}