LaMarca ME - Search Results

1

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

2

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.

3

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: lamarca me. Pediatr Res. 2003 Mar;53(3):387-95. doi: 10.1203/01.PDR.0000049515.79882.94. Pediatr Res. 2003. PMID: 12595585

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

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.

7

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: lamarca me. Pediatr Res. 2000 Aug;48(2):233-7. doi: 10.1203/00006450-200008000-00018. Pediatr Res. 2000. PMID: 10926300

8

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

9

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: lamarca me. Mol Genet Metab. 2003 Jun;79(2):104-9. doi: 10.1016/s1096-7192(03)00071-4. Mol Genet Metab. 2003. PMID: 12809640

10

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.

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