 |
Ellen Sidransky, M.D.
Senior Investigator, Medical Genetics Branch
Head, Molecular Neurogenetics Section
Selected Publications
Goker-Alpan O, Lopez G, Davis J, Hallett M, Sidransky E. The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol, 65:1353-7. 2009. [PubMed]
Staretz-Chachem O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E. Lysosomal storage disorders in newborns. Pediatr, 123:1191-1207. 2009. [PubMed]
Vithayathil J, Gibney G, Baxevanis AD, Stubblefield BK, Sidransky E, Tayebi N. Glucocerebrosidase Mutations H255Q Appears to be Exclusively in cis With D409H: Structural Implications. Clin Genet, 75: 503-4. 2009. [PubMed]
Benko WS, Hruska KS, Nagan N, Goker-Alpan O, Hart PS, Schiffmann R, Sidransky E. Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3. Neurol, 70:976-8. 2008. [PubMed]
Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutations and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutation, 29:567-83. 2008. [PubMed]
Zheng W, Padia J, Urban DJ, Jadhav A, Goker-Alpan O, Simenov A, Goldin E, Auid D, LaMarca ME, Ingles J, Austin CP, Sidransky E. Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease. PNAS, 104: 13192-13197. 2007. [PubMed]
Goker-Alpan O, Giasson BI, Eblan MJ, Nguyen J, Hurtig HI, Lee VM, Trojanowski JQ, Sidransky E. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology, (6)21. 2006. [PubMed]
Goker-Alpan O, Hruska KS, Orvisky E, et al. Divergent phenotypes in Gaucher disease implicate the role of modifiers. J Med Genet, 42(6):e37. 2005. [PubMed]
Sidransky E. Gaucher disease and parkinsonism. Mol Genet Metab, 84(4):302-304. 2005. [PubMed]
Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol
Genet Metab, 83:6-15. 2004. [PubMed]
Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerny-Leo A,
Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet,
41:937-940. 2004. [PubMed]
Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E.
Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet
Metab, 81:70-3. 2004. [PubMed]
Tayebi N, Walker JM, Stubblefield BK, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidranksy E. Gaucher disease with Parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to Parkinsonism? Mol Genet Metab, 79:104-9. 2003. [PubMed]
Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet, 72:519-34. 2003. [PubMed]
Park JK, Orvisky E, Tayebi N, Kaneski C, LaMarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E. Myoclonic epilepsy in Gaucher disease: Genotype-phenotype insights from a rare patient subgroup. Pediatr Res, 53:387-395. 2003. [PubMed]
Orvisky E, Park JK, LaMarca ME, Ginns EI, Krasnewich D, Martin BM, Tayebi N, Sidransky E. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: Correlation with phenotype and genotype. Mol Genet Metab, 76:262-70. 2002. [PubMed]
Koprivica V, Stone DL, Park JK, Frish A, Cohen I, Tayebi N, Sidransky E. An analysis and classification of 304 mutant alleles in patients with Type 1 and Type 3 Gaucher disease. Am J Hum Genet, 66:1777-1786. 2000. [PubMed]
Orvisky E, Sidransky E, McKinney CE, LaMarca ME, Samimi R, Krasnewich D, Martin BM, Ginns EI. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res, 48:1-5. 2000. [PubMed]
Stone DL, Tayebi N, Orvisky E, Stubblefield BK, Madike V, Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat, 15:181-188. 2000. [PubMed]
Stone DL, Sidransky E. Hydrops fetalis: Lysosomal storage disorders in extremis. Adv Pediatr, Vol. 46, pp 409-440. 1999. [PubMed]
Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: Implications for Gaucher disease. Genome Res, 7:1020-1026. 1997. [PubMed]
Holleran WM, Ginns EI, Menon GK, Grundmann JU, Fartasch M, McKinney C, Elias PM, Sidransky E. Consequences of beta-glucocerebrosidase deficiency in epidermis: ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest, 93:1756-1764. 1994. [PubMed]
Sidransky E, Sherer DM, Ginns EI. Gaucher disease in the neonate: A distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res, 32:494-498. 1992. [PubMed]
Top of page
Last Updated: September 19, 2009
|
|
