Sidransky E - Search Results

1

Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening.

Urban DJ, Zheng W, Goker-Alpan O, Jadhav A, Lamarca ME, Inglese J, Sidransky E, Austin CP. Urban DJ, et al. Among authors: sidransky e. Comb Chem High Throughput Screen. 2008 Dec;11(10):817-24. doi: 10.2174/138620708786734244. Comb Chem High Throughput Screen. 2008. PMID: 19075603 Free PMC article.

2

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.

Tybulewicz VL, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP, et al. Tybulewicz VL, et al. Among authors: sidransky e. Nature. 1992 Jun 4;357(6377):407-10. doi: 10.1038/357407a0. Nature. 1992. PMID: 1594045

3

A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse.

Willemsen R, Tybulewicz V, Sidransky E, Eliason WK, Martin BM, LaMarca ME, Reuser AJ, Tremblay M, Westphal H, Mulligan RC, et al. Willemsen R, et al. Among authors: sidransky e. Mol Chem Neuropathol. 1995 Feb-Apr;24(2-3):179-92. doi: 10.1007/BF02962142. Mol Chem Neuropathol. 1995. PMID: 7632321 Free article.

4

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.

Orvisky E, Sidransky E, McKinney CE, Lamarca ME, Samimi R, Krasnewich D, Martin BM, Ginns EI. Orvisky E, et al. Among authors: sidransky e. Pediatr Res. 2000 Aug;48(2):233-7. doi: 10.1203/00006450-200008000-00018. Pediatr Res. 2000. PMID: 10926300

5

The E326K mutation and Gaucher disease: mutation or polymorphism?

Park JK, Tayebi N, Stubblefield BK, LaMarca ME, MacKenzie JJ, Stone DL, Sidransky E. Park JK, et al. Among authors: sidransky e. Clin Genet. 2002 Jan;61(1):32-4. doi: 10.1034/j.1399-0004.2002.610106.x. Clin Genet. 2002. PMID: 11903352

6

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.

Orvisky E, Park JK, LaMarca ME, Ginns EI, Martin BM, Tayebi N, Sidransky E. Orvisky E, et al. Among authors: sidransky e. Mol Genet Metab. 2002 Aug;76(4):262-70. doi: 10.1016/s1096-7192(02)00117-8. Mol Genet Metab. 2002. PMID: 12208131

7

Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E. Tayebi N, et al. Among authors: sidransky e. Am J Hum Genet. 2003 Mar;72(3):519-34. doi: 10.1086/367850. Epub 2003 Feb 13. Am J Hum Genet. 2003. PMID: 12587096 Free PMC article.

8

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E. Park JK, et al. Among authors: sidransky e. Pediatr Res. 2003 Mar;53(3):387-95. doi: 10.1203/01.PDR.0000049515.79882.94. Pediatr Res. 2003. PMID: 12595585

9

Glucocerebrosidase mutation T369M appears to be another polymorphism.

Walker JM, Lwin A, Tayebi N, LaMarca ME, Orvisky E, Sidransky E. Walker JM, et al. Among authors: sidransky e. Clin Genet. 2003 Mar;63(3):237-8. doi: 10.1034/j.1399-0004.2003.00055.x. Clin Genet. 2003. PMID: 12694238 No abstract available.

10

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. Tayebi N, et al. Among authors: sidransky e. Mol Genet Metab. 2003 Jun;79(2):104-9. doi: 10.1016/s1096-7192(03)00071-4. Mol Genet Metab. 2003. PMID: 12809640

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