LaMarca ME - Search Results

1

Therapy for Gaucher disease: don't stop thinking about tomorrow.

Sidransky E, LaMarca ME, Ginns EI. Sidransky E, et al. Among authors: lamarca me. Mol Genet Metab. 2007 Feb;90(2):122-5. doi: 10.1016/j.ymgme.2006.09.007. Epub 2006 Nov 3. Mol Genet Metab. 2007. PMID: 17084653 Review.

2

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: lamarca me. Mol Genet Metab. 2002 Aug;76(4):262-70. doi: 10.1016/s1096-7192(02)00117-8. Mol Genet Metab. 2002. PMID: 12208131

3

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: lamarca me. 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.

4

Glucocerebrosidase mutations in subjects with parkinsonism.

Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Lwin A, et al. Among authors: lamarca me. Mol Genet Metab. 2004 Jan;81(1):70-3. doi: 10.1016/j.ymgme.2003.11.004. Mol Genet Metab. 2004. PMID: 14728994

5

A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.

LaMarca ME, Goldstein M, Tayebi N, Arcos-Burgos M, Martin BM, Sidransky E. LaMarca ME, et al. J Hum Genet. 2004;49(4):220-222. doi: 10.1007/s10038-004-0134-7. Epub 2004 Mar 13. J Hum Genet. 2004. PMID: 15024629

6

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.

Ziegler SG, Eblan MJ, Gutti U, Hruska KS, Stubblefield BK, Goker-Alpan O, LaMarca ME, Sidransky E. Ziegler SG, et al. Among authors: lamarca me. Mol Genet Metab. 2007 Jun;91(2):195-200. doi: 10.1016/j.ymgme.2007.03.004. Epub 2007 Apr 25. Mol Genet Metab. 2007. PMID: 17462935 Free PMC article.

7

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease.

Zheng W, Padia J, Urban DJ, Jadhav A, Goker-Alpan O, Simeonov A, Goldin E, Auld D, LaMarca ME, Inglese J, Austin CP, Sidransky E. Zheng W, et al. Among authors: lamarca me. Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):13192-7. doi: 10.1073/pnas.0705637104. Epub 2007 Aug 1. Proc Natl Acad Sci U S A. 2007. PMID: 17670938 Free PMC article.

8

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

Hruska KS, LaMarca ME, Scott CR, Sidransky E. Hruska KS, et al. Among authors: lamarca me. Hum Mutat. 2008 May;29(5):567-83. doi: 10.1002/humu.20676. Hum Mutat. 2008. PMID: 18338393 Review.

9

In silico and functional studies of the regulation of the glucocerebrosidase gene.

Blech-Hermoni YN, Ziegler SG, Hruska KS, Stubblefield BK, Lamarca ME, Portnoy ME; NISC Comparative Sequencing Program; Green ED, Sidransky E. Blech-Hermoni YN, et al. Among authors: lamarca me. Mol Genet Metab. 2010 Mar;99(3):275-82. doi: 10.1016/j.ymgme.2009.10.189. Epub 2009 Nov 4. Mol Genet Metab. 2010. PMID: 20004604 Free PMC article.

10

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: lamarca me. Clin Genet. 2002 Jan;61(1):32-4. doi: 10.1034/j.1399-0004.2002.610106.x. Clin Genet. 2002. PMID: 11903352

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