References
- Lesage S, Brice A. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet 2009; 18:R48–59.
- Gasser T. Molecular pathogenesis of Parkinson disease: insights from genetic studies. Expert Rev Mol Med 2009;11:e22.
- Beavan MS, Schapira AH. Glucocerebrosidase mutations and the pathogenesis of Parkinson disease. Ann Med 2013;45:511–21.
- Trinh J, Farrer M. Advances in the genetics of Parkinson disease. Nature Rev Neurol 2013;9:445–54.
- Hruska KS, Goker-Alpan O, Sidransky E. Gaucher disease and the synucleinopathies. J Biomed Biotechnol 2006;2006:78549.
- Lwin A, Orvisky E, Goker-Alpan O, et al. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 2004;81:70–3.
- Lesage S, Anheim M, Condroyer C, et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet 2011;20:202–10.
- Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. New England J Med 2009;361:1651–61.
- Hu FY, Xi J, Guo J, et al. Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China. Eur J Neurol 2010;17:1476–8.
- Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009;132:1783–94.
- Mao XY, Burgunder JM, Zhang ZJ, et al. Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China. Neurosci Lett 2010;469:256–9.
- Foo JN, Tan LC, Liany H, et al. Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations. Hum Mol Genet 2014;23:3891–7.
- Grimes DA, Han F, Panisset M, et al. Translated mutation in the Nurr1 gene as a cause for Parkinson's disease. Mov Disord 2006;21:906–9.
- Grimes DA, Racacho L, Han F, et al. LRRK2 screening in a Canadian Parkinson's disease cohort. Can J Neurol Sci 2007;34:336–8.
- Shi G, Lee JR, Grimes DA, et al. Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease. Hum Mol Genet 2011;20:1966–74.
- Hughes AJ, Daniel SE, Lees AJ. Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease. Neurology 2001;57:1497–9.
- Mitsui J, Mizuta I, Toyoda A, et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol 2009;66:571–6.
- Park JK, Tayebi N, Stubblefield BK, et al. The E326K mutation and Gaucher disease: mutation or polymorphism? Clin Genet 2002;61:32–4.
- Walker JM, Lwin A, Tayebi N, et al. Glucocerebrosidase mutation T369M appears to be another polymorphism. Clin Genet 2003;63:237–8.
- Clark LN, Ross BM, Wang Y, et al. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology 2007;69:1270–7.
- Sato C, Morgan A, Lang AE, et al. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov Disord 2005;20:367–70.
- Bras J, Paisan-Ruiz C, Guerreiro R, et al. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging 2009;30:1515–7.
- Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, et al. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci Lett 2009;452:87–9.
- Sun QY, Guo JF, Wang L, et al. Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population. Mov Disord 2010;25:1005–11.
- Tan EK, Tong J, Fook-Chong S, et al. Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Arch Neurol 2007;64:1056–8.
- Ziegler SG, Eblan MJ, Gutti U, et al. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab 2007;91:195–200.
- Goker-Alpan O, Lopez G, Vithayathil J, et al. The spectrum of Parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol 2008;65:1353–7.
- Gan-Or Z, Giladi N, Orr-Urtreger A. Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations. Brain 2009;132:e125.
- Eblan MJ, Nguyen J, Ziegler SG, et al. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov Disord 2006;21:282–3.
- Farrer MJ, Williams LN, Algom AA, et al. Glucosidase-beta variations and Lewy body disorders. Parkinsonism Relat Disord 2009;15:414–6.
- Tsuang D, Leverenz JB, Lopez OL, et al. GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology 2012;79:1944–50.
- Segarane B, Li A, Paudel R, et al. Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy. Neurology 2009;72:1185–6.
- Wang Y, Liu L, Xiong J, et al. Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China. Behav Brain Funct 2012;8:57.
- Cullen V, Sardi SP, Ng J, et al. Acid beta-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter alpha-synuclein processing. Ann Neurol 2011;69:940–53.
- Ron I, Horowitz M. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet 2005;14:2387–98.
- Siebert M, Sidransky E, Westbroek W. Glucocerebrosidase is shaking up the synucleinopathies. Brain 2014;137:1304–22.