-
1
-
-
27744519517
-
Hematologically important mutations: Gaucher disease
-
Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 2005; 35: 355-364.
-
(2005)
Blood Cells Mol Dis
, vol.35
, pp. 355-364
-
-
Beutler, E.1
Gelbart, T.2
Scott, C.R.3
-
2
-
-
79956324138
-
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in European with Parkinson's disease
-
Lesage S, Anheim M, Condroyer C, et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in European with Parkinson's disease. Hum Mol Genet 2011; 20: 202-210.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 202-210
-
-
Lesage, S.1
Anheim, M.2
Condroyer, C.3
-
3
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. New Eng J Med 2009; 361: 1651-1661.
-
(2009)
New Eng J Med
, vol.361
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
-
4
-
-
33646171709
-
Glucocerebrosidase gene mutations and Parkinson disease in the Norweigan population
-
Toft M, Pielsticker L, Ross OA, Aasly JO, Farrer MJ. Glucocerebrosidase gene mutations and Parkinson disease in the Norweigan population. Neurology 2006; 66: 415-417.
-
(2006)
Neurology
, vol.66
, pp. 415-417
-
-
Toft, M.1
Pielsticker, L.2
Ross, O.A.3
Aasly, J.O.4
Farrer, M.J.5
-
5
-
-
0035206698
-
New insights into the origin of the gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms
-
Rodríguez-Marí A, Díaz-Font A, Chabás A, Pastores GM, Grinberg D, Vilageliu L. New insights into the origin of the gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms. Blood Cells Mol Dis 2001; 27: 950-959.
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 950-959
-
-
Rodríguez-Marí, A.1
Díaz-Font, A.2
Chabás, A.3
Pastores, G.M.4
Grinberg, D.5
Vilageliu, L.6
-
6
-
-
0033910320
-
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations
-
Diaz GA, Gelb BD, Risch N, et al. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. Am J Hum Genetics 2000; 66: 1821-1832.
-
(2000)
Am J Hum Genetics
, vol.66
, pp. 1821-1832
-
-
Diaz, G.A.1
Gelb, B.D.2
Risch, N.3
-
7
-
-
0031968178
-
Molecular analysis and clinical findings in the spanish gaucher disease population: putative haplotype of the N370S ancestral chromosome
-
Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L. Molecular analysis and clinical findings in the spanish gaucher disease population: putative haplotype of the N370S ancestral chromosome. Hum Mutat 1998; 11: 295-305.
-
(1998)
Hum Mutat
, vol.11
, pp. 295-305
-
-
Cormand, B.1
Grinberg, D.2
Gort, L.3
Chabás, A.4
Vilageliu, L.5
-
8
-
-
0026514953
-
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinic-pathological study of 100 cases
-
Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinic-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181-184.
-
(1992)
J Neurol Neurosurg Psychiatry
, vol.55
, pp. 181-184
-
-
Hughes, A.J.1
Daniel, S.E.2
Kilford, L.3
Lees, A.J.4
-
9
-
-
47049095383
-
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele
-
Santamaria R, Michelakakis H, Moraitou M, et al. Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. Hum Mutat 2008; 29: E58-67.
-
(2008)
Hum Mutat
, vol.29
-
-
Santamaria, R.1
Michelakakis, H.2
Moraitou, M.3
-
10
-
-
70349948789
-
Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations
-
Gan-Or Z, Giladi N, Orr U. Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations. Brain 2009; 132: e125.
-
(2009)
Brain
, vol.132
-
-
Gan-Or, Z.1
Giladi, N.2
Orr, U.3
-
11
-
-
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
-
12
-
-
0032996131
-
Parkinson's syndrome preceding clinical manifestation of Gaucher's disease
-
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.
-
(1999)
Am J Hematol
, vol.61
, pp. 216-217
-
-
Machaczka, M.1
Rucinska, M.2
Skotnicki, A.B.3
Jurczak, W.4
-
13
-
-
84858144224
-
Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
-
Anheim M, Elbaz A, Lesage S, et al. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology 2012; 78: 417-420.
-
(2012)
Neurology
, vol.78
, pp. 417-420
-
-
Anheim, M.1
Elbaz, A.2
Lesage, S.3
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