-
1
-
-
80051534540
-
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
-
Zimprich, A., Benet-Pages, A., Struhal, W., Graf, E., Eck, S. H. & Offman, M. N. et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am. J. Hum. Genet. 89, 168-175 (2011).
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 168-175
-
-
Zimprich, A.1
Benet-Pages, A.2
Struhal, W.3
Graf, E.4
Eck, S.H.5
Offman, M.N.6
-
2
-
-
84859339977
-
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database
-
Lill, C. M., Roehr, J. T., McQueen, M. B., Kavvoura, F. K., Bagade, S. & Schjeide, B. M. et al. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet. 8, e1002548 (2012).
-
(2012)
PLoS Genet.
, vol.8
, pp. e1002548
-
-
Lill, C.M.1
Roehr, J.T.2
McQueen, M.B.3
Kavvoura, F.K.4
Bagade, S.5
Schjeide, B.M.6
-
3
-
-
69149089036
-
Molecular pathogenesis of Parkinson disease: Insights from genetic studies
-
Gasser, T. Molecular pathogenesis of Parkinson disease: Insights from genetic studies. Expert Rev. Mol. Med. 11, e22 (2009).
-
(2009)
Expert Rev. Mol. Med.
, vol.11
, pp. e22
-
-
Gasser, T.1
-
4
-
-
33746916754
-
Translated mutation in the Nurr1 gene as a cause for Parkinson's disease
-
Grimes, D. A., Han, F., Panisset, M., Racacho, L., Xiao, F. & Zou, R. et al. Translated mutation in the Nurr1 gene as a cause for Parkinson's disease. Mov. Disord. 21, 906-909 (2006).
-
(2006)
Mov. Disord.
, vol.21
, pp. 906-909
-
-
Grimes, D.A.1
Han, F.2
Panisset, M.3
Racacho, L.4
Xiao, F.5
Zou, R.6
-
5
-
-
84887574376
-
Glucocerebrosidase mutations and the pathogenesis of Parkinson disease
-
Beavan, M. S. & Schapira, A. H. Glucocerebrosidase mutations and the pathogenesis of Parkinson disease. Ann. Med. 45, 511-521 (2013).
-
(2013)
Ann. Med.
, vol.45
, pp. 511-521
-
-
Beavan, M.S.1
Schapira, A.H.2
-
6
-
-
0346059412
-
Glucocerebrosidase mutations in subjects with parkinsonism
-
Lwin, A., Orvisky, E., Goker-Alpan, O., LaMarca, M. E. & Sidransky, E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol. Genet. Metab. 81, 70-73 (2004).
-
(2004)
Mol. Genet. Metab.
, vol.81
, pp. 70-73
-
-
Lwin, A.1
Orvisky, E.2
Goker-Alpan, O.3
LaMarca, M.E.4
Sidransky, E.5
-
7
-
-
79956324138
-
Largescale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
-
Lesage, S., Anheim, M., Condroyer, C., Pollak, P., Durif, F. & Dupuits, C. et al. Largescale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum. Mol. Genet. 20, 202-210 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 202-210
-
-
Lesage, S.1
Anheim, M.2
Condroyer, C.3
Pollak, P.4
Durif, F.5
Dupuits, C.6
-
8
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky, E., Nalls, M. A., Aasly, J. O., Aharon-Peretz, J., Annesi, G. & Barbosa, E. R. et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med. 361, 1651-1661 (2009).
-
(2009)
N. Engl. J. Med.
, vol.361
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
Aharon-Peretz, J.4
Annesi, G.5
Barbosa, E.R.6
-
9
-
-
78649568105
-
Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China
-
Hu, F. Y., Xi, J., Guo, J., Yu, L. H., Liu, L. & He, X. H. et al. Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China. Eur. J. Neurol. 17, 1476-1478 (2010).
-
(2010)
Eur. J. Neurol.
, vol.17
, pp. 1476-1478
-
-
Hu, F.Y.1
Xi, J.2
Guo, J.3
Yu, L.H.4
Liu, L.5
He, X.H.6
-
10
-
-
77953485608
-
Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
-
Sun, Q. Y., Guo, J. F., Wang, L., Yu, R. H., Zuo, X. & Yao, L. Y. et al. Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population. Mov. Disord. 25, 1005-1011 (2010).
-
(2010)
Mov. Disord.
, vol.25
, pp. 1005-1011
-
-
Sun, Q.Y.1
Guo, J.F.2
Wang, L.3
Yu, R.H.4
Zuo, X.5
Yao, L.Y.6
-
11
-
-
72749098988
-
Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China
-
Mao, X. Y., Burgunder, J. M., Zhang, Z. J., An, X. K., Zhang, J. H. & Yang, Y. et al. Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China. Neurosci. Lett. 469, 256-259 (2010).
-
(2010)
Neurosci. Lett.
, vol.469
, pp. 256-259
-
-
Mao, X.Y.1
Burgunder, J.M.2
Zhang, Z.J.3
An, X.K.4
Zhang, J.H.5
Yang, Y.6
-
12
-
-
84872181584
-
Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China
-
Wang, Y., Liu, L., Xiong, J., Zhang, X., Chen, Z. & Yu, L. et al. Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China. Behav. Brain. Funct. 8, 57 (2012).
-
(2012)
Behav. Brain. Funct.
, vol.8
, pp. 57
-
-
Wang, Y.1
Liu, L.2
Xiong, J.3
Zhang, X.4
Chen, Z.5
Yu, L.6
-
13
-
-
0035940582
-
Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease
-
Hughes, A. J., Daniel, S. E. & Lees, A. J. Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease. Neurology 57, 1497-1499 (2001).
-
(2001)
Neurology
, vol.57
, pp. 1497-1499
-
-
Hughes, A.J.1
Daniel, S.E.2
Lees, A.J.3
-
14
-
-
66249109910
-
Mutations for Gaucher disease confer high susceptibility to Parkinson disease
-
Mitsui, J., Mizuta, I., Toyoda, A., Ashida, R., Takahashi, Y. & Goto, J. et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch. Neurol. 66, 571-576 (2009).
-
(2009)
Arch. Neurol.
, vol.66
, pp. 571-576
-
-
Mitsui, J.1
Mizuta, I.2
Toyoda, A.3
Ashida, R.4
Takahashi, Y.5
Goto, J.6
-
15
-
-
67650087652
-
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
-
Neumann, J., Bras, J., Deas, E., O'Sullivan, S. S., Parkkinen, L. & Lachmann, R. H. et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 132, 1783-1794 (2009).
-
(2009)
Brain
, vol.132
, pp. 1783-1794
-
-
Neumann, J.1
Bras, J.2
Deas, E.3
O'Sullivan, S.S.4
Parkkinen, L.5
Lachmann, R.H.6
-
16
-
-
43049170734
-
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy
-
De Marco, E. V., Annesi, G., Tarantino, P., Rocca, F. E., Provenzano, G. & Civitelli, D. et al. Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov. Disord. 23, 460-463 (2008).
-
(2008)
Mov. Disord.
, vol.23
, pp. 460-463
-
-
De Marco, E.V.1
Annesi, G.2
Tarantino, P.3
Rocca, F.E.4
Provenzano, G.5
Civitelli, D.6
-
17
-
-
34548726339
-
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
-
Clark, L. N., Ross, B. M., Wang, Y., Mejia-Santana, H., Harris, J. & Louis, E. D. et al. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology 69, 1270-1277 (2007).
-
(2007)
Neurology
, vol.69
, pp. 1270-1277
-
-
Clark, L.N.1
Ross, B.M.2
Wang, Y.3
Mejia-Santana, H.4
Harris, J.5
Louis, E.D.6
-
18
-
-
67650509100
-
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
-
Bras, J., Paisan-Ruiz, C., Guerreiro, R., Ribeiro, M. H., Morgadinho, A. & Januario, C. et al. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol. Aging 30, 1515-1517 (2009).
-
(2009)
Neurobiol. Aging
, vol.30
, pp. 1515-1517
-
-
Bras, J.1
Paisan-Ruiz, C.2
Guerreiro, R.3
Ribeiro, M.H.4
Morgadinho, A.5
Januario, C.6
-
19
-
-
60249097449
-
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece
-
Kalinderi, K., Bostantjopoulou, S., Paisan-Ruiz, C., Katsarou, Z., Hardy, J. & Fidani, L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci. Lett. 452, 87-89 (2009).
-
(2009)
Neurosci. Lett.
, vol.452
, pp. 87-89
-
-
Kalinderi, K.1
Bostantjopoulou, S.2
Paisan-Ruiz, C.3
Katsarou, Z.4
Hardy, J.5
Fidani, L.6
-
20
-
-
20944434070
-
Analysis of the glucocerebrosidase gene in Parkinson's disease
-
Sato, C., Morgan, A., Lang, A. E., Salehi-Rad, S., Kawarai, T. & Meng, Y. et al. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov. Disord. 20, 367-370 (2005).
-
(2005)
Mov. Disord.
, vol.20
, pp. 367-370
-
-
Sato, C.1
Morgan, A.2
Lang, A.E.3
Salehi-Rad, S.4
Kawarai, T.5
Meng, Y.6
-
21
-
-
34447273298
-
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients
-
Tan, E. K., Tong, J., Fook-Chong, S., Yih, Y., Wong, M. C. & Pavanni, R. et al. Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Arch. Neurol. 64, 1056-1058 (2007).
-
(2007)
Arch. Neurol.
, vol.64
, pp. 1056-1058
-
-
Tan, E.K.1
Tong, J.2
Fook-Chong, S.3
Yih, Y.4
Wong, M.C.5
Pavanni, R.6
-
22
-
-
34248594808
-
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease
-
Ziegler, S. G., Eblan, M. J., Gutti, U., Hruska, K. S., Stubblefield, B. K. & Goker-Alpan, O. et al. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol. Genet. Metab. 91, 195-200 (2007).
-
(2007)
Mol. Genet. Metab.
, vol.91
, pp. 195-200
-
-
Ziegler, S.G.1
Eblan, M.J.2
Gutti, U.3
Hruska, K.S.4
Stubblefield, B.K.5
Goker-Alpan, O.6
-
23
-
-
54049097933
-
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations
-
Goker-Alpan, O., Lopez, G., Vithayathil, J., Davis, J., Hallett, M. & Sidransky, E. The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch. Neurol. 65, 1353-1357 (2008).
-
(2008)
Arch. Neurol.
, vol.65
, pp. 1353-1357
-
-
Goker-Alpan, O.1
Lopez, G.2
Vithayathil, J.3
Davis, J.4
Hallett, M.5
Sidransky, E.6
-
24
-
-
70349948789
-
Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations
-
Gan-Or, Z., Giladi, N. & Orr-Urtreger, A. Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations. Brain 132, e125 (2009).
-
(2009)
Brain
, vol.132
, pp. e125
-
-
Gan-Or, Z.1
Giladi, N.2
Orr-Urtreger, A.3
-
25
-
-
33644935848
-
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela
-
Eblan, M. J., Nguyen, J., Ziegler, S. G., Lwin, A., Hanson, M. & Gallardo, M. et al. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov. Disord. 21, 282-283 (2006).
-
(2006)
Mov. Disord.
, vol.21
, pp. 282-283
-
-
Eblan, M.J.1
Nguyen, J.2
Ziegler, S.G.3
Lwin, A.4
Hanson, M.5
Gallardo, M.6
-
26
-
-
65249115797
-
Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy
-
Segarane, B., Li, A., Paudel, R., Scholz, S., Neumann, J. & Lees, A. et al. Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy. Neurology 72, 1185-1186 (2009).
-
(2009)
Neurology
, vol.72
, pp. 1185-1186
-
-
Segarane, B.1
Li, A.2
Paudel, R.3
Scholz, S.4
Neumann, J.5
Lees, A.6
-
27
-
-
67449090672
-
Glucosidase-beta variations and Lewy body disorders
-
Farrer, M. J., Williams, L. N., Algom, A. A., Kachergus, J., Hulihan, M. M. & Ross, O. A. et al. Glucosidase-beta variations and Lewy body disorders. Parkinsonism Relat. Disord. 15, 414-416 (2009).
-
(2009)
Parkinsonism Relat. Disord.
, vol.15
, pp. 414-416
-
-
Farrer, M.J.1
Williams, L.N.2
Algom, A.A.3
Kachergus, J.4
Hulihan, M.M.5
Ross, O.A.6
-
28
-
-
84871226620
-
GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology
-
Tsuang, D., Leverenz, J. B., Lopez, O. L., Hamilton, R. L., Bennett, D. A. & Schneider, J. A. et al. GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology 79, 1944-1950 (2012).
-
(2012)
Neurology
, vol.79
, pp. 1944-1950
-
-
Tsuang, D.1
Leverenz, J.B.2
Lopez, O.L.3
Hamilton, R.L.4
Bennett, D.A.5
Schneider, J.A.6
-
29
-
-
79956199921
-
Acid beta-glucosidase mutants linked to Gaucher disease Parkinson disease, and Lewy body dementia alter alpha-synuclein processing
-
Cullen, V., Sardi, S. P., Ng, J., Xu, Y. H., Sun, Y. & Tomlinson, J. J. et al. Acid beta-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter alpha-synuclein processing. Ann. Neurol. 69, 940-953 (2011).
-
(2011)
Ann. Neurol.
, vol.69
, pp. 940-953
-
-
Cullen, V.1
Sardi, S.P.2
Ng, J.3
Xu, Y.H.4
Sun, Y.5
Tomlinson, J.J.6
-
30
-
-
26444609722
-
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
-
Ron, I. & Horowitz, M. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum. Mol. Genet. 14, 2387-2398 (2005).
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2387-2398
-
-
Ron, I.1
Horowitz, M.2
|