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Items: 1 to 20 of 254

1.

Glucocerebrosidase mutations in subjects with parkinsonism.

Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E.

Mol Genet Metab. 2004 Jan;81(1):70-3.

PMID:
14728994
2.

Parkinsonism among Gaucher disease carriers.

Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E.

J Med Genet. 2004 Dec;41(12):937-40.

3.

Gaucher disease: complexity in a "simple" disorder.

Sidransky E.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15. Review.

PMID:
15464415
4.

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

Montfort M, Chabás A, Vilageliu L, Grinberg D.

Hum Mutat. 2004 Jun;23(6):567-75. Erratum in: Hum Mutat. 2005 Sep;26(3):276.

PMID:
15146461
5.

Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.

Hodanová K, Hrebícek M, Cervenková M, Mrázová L, Vepreková L, Zemen J.

Blood Cells Mol Dis. 1999 Oct-Dec;25(5-6):287-98.

PMID:
10744424
6.

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E.

Mol Genet Metab. 2003 Jun;79(2):104-9.

PMID:
12809640
7.

Large-scale 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, Viallet F, Lohmann E, Corvol JC, Honoré A, Rivaud S, Vidailhet M, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group..

Hum Mol Genet. 2011 Jan 1;20(1):202-10. doi: 10.1093/hmg/ddq454.

8.

Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population.

Choi JM, Kim WC, Lyoo CH, Kang SY, Lee PH, Baik JS, Koh SB, Ma HI, Sohn YH, Lee MS, Kim YJ.

Neurosci Lett. 2012 Apr 11;514(1):12-5. doi: 10.1016/j.neulet.2012.02.035.

PMID:
22387070
9.

The E326K mutation and Gaucher disease: mutation or polymorphism?

Park JK, Tayebi N, Stubblefield BK, LaMarca ME, MacKenzie JJ, Stone DL, Sidransky E.

Clin Genet. 2002 Jan;61(1):32-4.

PMID:
11903352
10.

Detection of 12 new mutations in Gaucher disease Brazilian patients.

Rozenberg R, Fox DC, Sobreira E, Pereira LV.

Blood Cells Mol Dis. 2006 Nov-Dec;37(3):204-9.

PMID:
17059888
11.

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.

Hum Mutat. 2000;15(2):181-8. Review.

PMID:
10649495
12.

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

Eblan MJ, Nguyen J, Ziegler SG, Lwin A, Hanson M, Gallardo M, Weiser R, De Lucca M, Singleton A, Sidransky E.

Mov Disord. 2006 Feb;21(2):282-3. No abstract available.

PMID:
16261622
13.

Genetic and clinical features of patients with Gaucher disease in Hungary.

Erdos M, Hodanova K, Taskó S, Palicz A, Stolnaja L, Dvorakova L, Hrebicek M, Maródi L.

Blood Cells Mol Dis. 2007 Jul-Aug;39(1):119-23.

PMID:
17395504
14.

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Hruska KS, LaMarca ME, Scott CR, Sidransky E.

Hum Mutat. 2008 May;29(5):567-83. doi: 10.1002/humu.20676. Review.

PMID:
18338393
15.

Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.

Torralba MA, Pérez-Calvo JI, Pastores GM, Cenarro A, Giraldo P, Pocoví M.

Blood Cells Mol Dis. 2001 Mar-Apr;27(2):489-95. Erratum in: Blood Cells Mol Dis 2001 May-Jun;27(3):713.

PMID:
11259172
16.

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.

Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.

Blood Cells Mol Dis. 2005 Sep-Oct;35(2):253-8.

PMID:
15967693
17.

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil.

Spitz M, Rozenberg R, Pereira Lda V, Reis Barbosa E.

Parkinsonism Relat Disord. 2008;14(1):58-62.

PMID:
17703984
18.

Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.

Alfonso P, Cenarro A, Pérez-Calvo JI, Giralt M, Giraldo P, Pocoví M.

Blood Cells Mol Dis. 2001 Sep-Oct;27(5):882-91.

PMID:
11783951
19.

Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.

Emre S, Gürakan F, Yüce A, Rolf A, Scott R, Ozen H.

Eur J Med Genet. 2008 Jul-Aug;51(4):315-21. doi: 10.1016/j.ejmg.2008.02.004.

PMID:
18586596
20.

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.

DePaolo J, Goker-Alpan O, Samaddar T, Lopez G, Sidransky E.

Mov Disord. 2009 Aug 15;24(11):1571-8. doi: 10.1002/mds.22538. Review.

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