-
1
-
-
0000216808
-
Gaucher disease
-
Scriver CR, Beaudet AR, Sly W, Valle D, eds. 8th ed. New York: McGraw-Hill
-
Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AR, Sly W, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:3635-3668
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
2
-
-
4744343655
-
Gaucher disease: Complexity in a "simple" disorder
-
Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab 2004;83:6-15.
-
(2004)
Mol Genet Metab
, vol.83
, pp. 6-15
-
-
Sidransky, E.1
-
3
-
-
0346059412
-
Glucocerebrosidase mutations in subjects with parkinsonism
-
Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 2004;81:70-73
-
(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
-
4
-
-
7444237665
-
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
DOI 10.1056/NEJMoa033277
-
Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004;351:1972-1977 (Pubitemid 39447138)
-
(2004)
New England Journal of Medicine
, vol.351
, Issue.19
, pp. 1972-1977
-
-
Aharon-Peretz, J.1
Rosenbaum, H.2
Gershoni-Baruch, R.3
-
5
-
-
34548726339
-
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
-
DOI 10.1212/01.wnl.0000276989.17578.02, PII 0000611420070918000013
-
Clark LN, Ross BM, Wang Y, et al. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology 2007;69:1270-1277 (Pubitemid 47429028)
-
(2007)
Neurology
, vol.69
, Issue.12
, 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
Cote, L.J.7
Andrews, H.8
Fahn, S.9
Waters, C.10
Ford, B.11
Frucht, S.12
Ottman, R.13
Marder, K.14
-
6
-
-
46049112735
-
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset
-
Gan-Or Z, Giladi N, Rozovski U, et al. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology 2008;70:2277-2283
-
(2008)
Neurology
, vol.70
, pp. 2277-2283
-
-
Gan-Or, Z.1
Giladi, N.2
Rozovski, U.3
-
7
-
-
20944434070
-
Analysis of the glucocerebrosidase gene in Parkinson's disease
-
DOI 10.1002/mds.20319
-
Sato C, Morgan A, Lang AE, et al. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov Disord 2005;20:367-370 (Pubitemid 40613301)
-
(2005)
Movement Disorders
, vol.20
, Issue.3
, pp. 367-370
-
-
Sato, C.1
Morgan, A.2
Lang, A.E.3
Salehi-Rad, S.4
Kawarai, T.5
Meng, Y.6
Ray, P.N.7
Farrer, L.A.8
St George-Hyslop, P.9
Rogaeva, E.10
-
8
-
-
33644935848
-
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela
-
Eblan MJ, Nguyen J, Ziegler SG, et al. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov Disord 2006;21:282-283
-
(2006)
Mov Disord
, vol.21
, pp. 282-283
-
-
Eblan, M.J.1
Nguyen, J.2
Ziegler, S.G.3
-
10
-
-
67650509100
-
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
-
Bras J, Paisan-Ruiz C, Guerreiro R, et al. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging 2009;30:1515-1517
-
(2009)
Neurobiol Aging
, vol.30
, pp. 1515-1517
-
-
Bras, J.1
Paisan-Ruiz, C.2
Guerreiro, R.3
-
11
-
-
40849120549
-
Glucocerebrosidase gene mutations: A risk factor for Lewy body disorders
-
Mata IF, Samii A, Schneer SH, et al. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 2008;65:379-382
-
(2008)
Arch Neurol
, vol.65
, pp. 379-382
-
-
Mata, I.F.1
Samii, A.2
Schneer, S.H.3
-
12
-
-
33646171709
-
Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population
-
DOI 10.1212/01.wnl.0000196492.80676.7c, PII 0000611420060214000025
-
Toft M, Pielsticker L, Ross OA, Aasly JO, Farrer MJ. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology 2006;66:415-417 (Pubitemid 43739947)
-
(2006)
Neurology
, vol.66
, Issue.3
, pp. 415-417
-
-
Toft, M.1
Pielsticker, L.2
Ross, O.A.3
Aasly, J.O.4
Farrer, M.J.5
-
13
-
-
43049170734
-
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy
-
De Marco EV, Annesi G, Tarantino P, et al. Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov Disord 2008;23:460-463
-
(2008)
Mov Disord
, vol.23
, pp. 460-463
-
-
De Marco, E.V.1
Annesi, G.2
Tarantino, P.3
-
14
-
-
34248594808
-
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease
-
DOI 10.1016/j.ymgme.2007.03.004, PII S1096719207001023
-
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. (Pubitemid 46765177)
-
(2007)
Molecular Genetics and Metabolism
, vol.91
, Issue.2
, 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
Lamarca, M.E.7
Sidransky, E.8
-
15
-
-
34548173473
-
Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese
-
Wu YR, Chen CM, Chao CY, et al. Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese. J Neurol Neurosurg Psychiatry 2007;78:977-979
-
(2007)
J Neurol Neurosurg Psychiatry
, vol.78
, pp. 977-979
-
-
Wu, Y.R.1
Chen, C.M.2
Chao, C.Y.3
-
16
-
-
34447273298
-
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients [2]
-
DOI 10.1001/archneur.64.7.1056
-
Tan EK, Tong J, Fook-Chong S, et al. Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Arch Neurol 2007;64:1056-1058 (Pubitemid 47048012)
-
(2007)
Archives of Neurology
, vol.64
, Issue.7
, pp. 1056-1058
-
-
Tan, E.-K.1
Tong, J.2
Fook-Chong, S.3
Yih, Y.4
Wong, M.-C.5
Pavanni, R.6
Zhao, Y.7
-
17
-
-
67650087652
-
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
-
Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009;132:1783-1794
-
(2009)
Brain
, vol.132
, pp. 1783-1794
-
-
Neumann, J.1
Bras, J.2
Deas, E.3
-
18
-
-
60549098601
-
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset
-
Nichols WC, Pankratz N, Marek DK, et al. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009;72:310-316
-
(2009)
Neurology
, vol.72
, pp. 310-316
-
-
Nichols, W.C.1
Pankratz, N.2
Marek, D.K.3
-
19
-
-
66249109910
-
Mutations for Gaucher disease confer high susceptibility to Parkinson disease
-
Mitsui J, Mizuta I, Toyoda A, et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol 2009;66:571-576
-
(2009)
Arch Neurol
, vol.66
, pp. 571-576
-
-
Mitsui, J.1
Mizuta, I.2
Toyoda, A.3
-
20
-
-
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 2009;452:87-89
-
(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
-
21
-
-
70449424616
-
-
Accessed September 25, 2009
-
The PDGene Database. Alzheimer research forum, 2009. (Accessed September 25, 2009, at http://www.pdgene.org/.)
-
(2009)
Alzheimer Research Forum
-
-
-
22
-
-
0032996131
-
Parkinson's syndrome preceding clinical manifestation of Gaucher's disease [2]
-
Machaczka M, Rucinska M, Skotnicki AB, Jurczak W. Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am J Hematol 1999;61:216-217 (Pubitemid 29297895)
-
(1999)
American Journal of Hematology
, vol.61
, Issue.3
, pp. 216-217
-
-
Machaczka, M.1
Rucinska, M.2
Skotnicki, A.B.3
Jurczak, W.4
-
23
-
-
0034848419
-
Gaucher disease and parkinsonism: A phenotypic and genotypic characterization
-
DOI 10.1006/mgme.2001.3201
-
Tayebi N, Callahan M, Madike V, et al. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 2001;73:313-321 (Pubitemid 32846370)
-
(2001)
Molecular Genetics and Metabolism
, vol.73
, Issue.4
, pp. 313-321
-
-
Tayebi, N.1
Callahan, M.2
Madike, V.3
Stubblefield, B.K.4
Orvisky, E.5
Krasnewich, D.6
Fillano, J.J.7
Sidransky, E.8
-
24
-
-
0029773625
-
Occurrence of Parkinson's syndrome in type I Gaucher disease
-
Neudorfer O, Giladi N, Elstein D, et al. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM 1996;89:691-694 (Pubitemid 26319021)
-
(1996)
QJM - Monthly Journal of the Association of Physicians
, vol.89
, Issue.9
, pp. 691-694
-
-
Neudorfer, O.1
Giladi, N.2
Elstein, D.3
Abrahamov, A.4
Turezkite, T.5
Achai, E.6
Reches, A.7
Bembi, B.8
Zimran, A.9
-
25
-
-
12444296116
-
Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
-
Tayebi N, Walker J, Stubblefield B, et al. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 2003;79:104-109
-
(2003)
Mol Genet Metab
, vol.79
, pp. 104-109
-
-
Tayebi, N.1
Walker, J.2
Stubblefield, B.3
-
26
-
-
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 2008;65:1353-1357
-
(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
-
27
-
-
10844278246
-
Parkinsonism among Gaucher disease carriers
-
Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet 2004;41:937-940
-
(2004)
J Med Genet
, vol.41
, pp. 937-940
-
-
Goker-Alpan, O.1
Schiffmann, R.2
LaMarca, M.E.3
Nussbaum, R.L.4
McInerney-Leo, A.5
Sidransky, E.6
-
28
-
-
33646837867
-
Increased incidence of Parkinson disease among relatives of patients with Gaucher disease
-
DOI 10.1016/j.bcmd.2006.02.004, PII S1079979606000817
-
Halperin A, Elstein D, Zimran A. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis 2006;36:426-428 (Pubitemid 43776190)
-
(2006)
Blood Cells, Molecules, and Diseases
, vol.36
, Issue.3
, pp. 426-428
-
-
Halperin, A.1
Elstein, D.2
Zimran, A.3
-
29
-
-
42949118684
-
Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
-
DOI 10.1002/humu.20676
-
Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 2008;29:567-583 (Pubitemid 351614580)
-
(2008)
Human Mutation
, vol.29
, Issue.5
, pp. 567-583
-
-
Hruska, K.S.1
Lamarca, M.E.2
Scott, C.R.3
Sidransky, E.4
-
30
-
-
2642562168
-
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms
-
DOI 10.1002/humu.20043
-
Montfort M, Chabás A, Vilageliu L, Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms. Hum Mutat 2004;23:567-575 [Erratum, Hum Mutat 2005;26:276.] (Pubitemid 38720608)
-
(2004)
Human Mutation
, vol.23
, Issue.6
, pp. 567-575
-
-
Montfort, M.1
Chabas, A.2
Vilageliu, L.3
Grinberg, D.4
-
31
-
-
0030725110
-
Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: Implications for Gaucher disease
-
Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Genome Res 1997;7:1020-1026 (Pubitemid 27487766)
-
(1997)
Genome Research
, vol.7
, Issue.10
, pp. 1020-1026
-
-
Winfield, S.L.1
Tayebi, N.2
Martin, B.M.3
Ginns, E.I.4
Sidransky, E.5
-
32
-
-
0037371235
-
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: Implications for complexity in Gaucher disease
-
DOI 10.1086/367850
-
Tayebi N, Stubblefield BK, Park JK, et al. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet 2003;72:519-534 (Pubitemid 36255951)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.3
, pp. 519-534
-
-
Tayebi, N.1
Stubblefield, B.K.2
Park, J.K.3
Orvisky, E.4
Walker, J.M.5
Lamarca, M.E.6
Sidransky, E.7
-
33
-
-
33646846303
-
Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations
-
DOI 10.1016/j.bcmd.2006.02.001, PII S1079979606000441
-
Wan L, Hsu CM, Tsai CH, Lee CC, Hwu WL, Tsai FJ. Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. Blood Cells Mol Dis 2006;36:422-425 (Pubitemid 43776181)
-
(2006)
Blood Cells, Molecules, and Diseases
, vol.36
, Issue.3
, pp. 422-425
-
-
Wan, L.1
Hsu, C.-M.2
Tsai, C.-H.3
Lee, C.-C.4
Hwu, W.-L.5
Tsai, F.-J.6
-
34
-
-
0023898945
-
The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease
-
Gibb WR, Lees AJ. The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry 1988;51:745-752
-
(1988)
J Neurol Neurosurg Psychiatry
, vol.51
, pp. 745-752
-
-
Gibb, W.R.1
Lees, A.J.2
-
35
-
-
84960989652
-
On estimating the relation between blood group and disease
-
Woolf B. On estimating the relation between blood group and disease. Ann Hum Genet 1955;19:251-253
-
(1955)
Ann Hum Genet
, vol.19
, pp. 251-253
-
-
Woolf, B.1
-
36
-
-
28444445926
-
-
Vienna: R Foundation for Statistical Computing, Accessed September 25, 2009, at
-
R: a language and environment for statistical computing. Vienna: R Foundation for Statistical Computing, 2005. (Accessed September 25, 2009, at http://www.R-project.org.)
-
(2005)
R: A Language and Environment for Statistical Computing
-
-
-
37
-
-
0036461424
-
The E326K mutation and Gaucher disease: Mutation or polymorphism?
-
Park JK, Tayebi N, Stubblefield BK, et al. The E326K mutation and Gaucher disease: mutation or polymorphism? Clin Genet 2002;61:32-34
-
(2002)
Clin Genet
, vol.61
, pp. 32-34
-
-
Park, J.K.1
Tayebi, N.2
Stubblefield, B.K.3
-
38
-
-
33748304674
-
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
-
DOI 10.1212/01.wnl.0000230215.41296.18, PII 0000611420060912000047
-
Goker-Alpan O, Giasson BI, Eblan MJ, et al. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology 2006;67:908-910 (Pubitemid 44394221)
-
(2006)
Neurology
, vol.67
, Issue.5
, pp. 908-910
-
-
Goker-Alpan, O.1
Giasson, B.I.2
Eblan, M.J.3
Nguyen, J.4
Hurtig, H.I.5
Lee, V.M.-Y.6
Trojanowski, J.Q.7
Sidransky, E.8
-
39
-
-
66249129677
-
Association of glucocerebrosidase mutations with dementia with Lewy bodies
-
Clark LN, Kartsaklis LA, Wolf Gilbert R, et al. Association of glucocerebrosidase mutations with dementia with Lewy bodies. Arch Neurol 2009;66:578-583
-
(2009)
Arch Neurol
, vol.66
, pp. 578-583
-
-
Clark, L.N.1
Kartsaklis, L.A.2
Wolf Gilbert, R.3
-
41
-
-
65249115797
-
Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy
-
Segarane B, Li A, Paudel R, et al. Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy. Neurology 2009;72:1185-1186
-
(2009)
Neurology
, vol.72
, pp. 1185-1186
-
-
Segarane, B.1
Li, A.2
Paudel, R.3
-
42
-
-
69949134511
-
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism
-
May 7 (Epub ahead of print)
-
DePaolo J, Goker-Alpan O, Samaddar T, Lopez G, Sidransky E. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov Disord 2009 May 7 (Epub ahead of print).
-
(2009)
Mov Disord
-
-
DePaolo, J.1
Goker-Alpan, O.2
Samaddar, T.3
Lopez, G.4
Sidransky, E.5
-
43
-
-
55949119836
-
Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease
-
Bras J, Singleton A, Cookson MR, Hardy J. Emerging pathways in genetic Parkinson's disease: potential role of ceramide metabolism in Lewy body disease. FEBS J 2008;275:5767-5773
-
(2008)
FEBS J
, vol.275
, pp. 5767-5773
-
-
Bras, J.1
Singleton, A.2
Cookson, M.R.3
Hardy, J.4
|