共 505 条
[21]
Clarke C(2010)Worldwide frequency of G2019S LRRK2 mutation in Parkinson’s disease: a systematic review Parkinsonism Related Disord 16 237-9
[22]
Facheris M(2008)α-Synuclein gene duplication is present in sporadic Parkinson disease Neurology 70 43-20
[23]
Farrer M(2012)Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers Neurology 78 417-61
[24]
Garraux G(2009)Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease N Engl J Med 361 1651-3
[25]
Gispert S(2004)Glucocerebrosidase mutations in subjects with parkinsonism Mol Genet Metab 81 70-8
[26]
Auburger G(2005)Perinatal lethal phenotype with generalized ichthyosis in a type 2 gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease Blood Cells Mol Dis 35 253-8
[27]
Vilariño-Güell C(2011)The enigma of the E326K mutation in acid α-glucocerebrosidase Mol Genet Metab 104 35-6
[28]
Hadjigeorgiou GM(2013)The glucocerobrosidase E326K variant predisposes to Parkinson’s disease, but does not cause Gaucher’s disease Mov Disord 28 232-84
[29]
Hicks AA(2012)Meta-analysis of Parkinson’s disease: identification of a novel locus, RIT2 Ann Neurol 71 370-6
[30]
Hattori N(2013)The PSEN1, p.E318G variant increases the risk of Alzheimer’s disease in APOE-ε4 carriers PLoS Genet 9 e1003685-8