De Gasperi R - Search Results

1

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.

De Gasperi R, Gama Sosa MA, Sartorato EL, Battistini S, MacFarlane H, Gusella JF, Krivit W, Kolodny EH. De Gasperi R, et al. Am J Hum Genet. 1996 Dec;59(6):1233-42. Am J Hum Genet. 1996. PMID: 8940268 Free PMC article.

2

Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer.

Gama Sosa MA, de Gasperi R, Undevia S, Yeretsian J, Rouse SC 2nd, Lyerla TA, Kolodny EH. Gama Sosa MA, et al. Among authors: de gasperi r. Biochem Biophys Res Commun. 1996 Jan 26;218(3):766-71. doi: 10.1006/bbrc.1996.0136. Biochem Biophys Res Commun. 1996. PMID: 8579588 Free article.

3

Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.

Bernardini GL, Herrera DG, Carson D, DeGasperi R, Gama Sosa MA, Kolodny EH, Trifiletti R. Bernardini GL, et al. Ann Neurol. 1997 Jan;41(1):111-4. doi: 10.1002/ana.410410119. Ann Neurol. 1997. PMID: 9005874

4

Molecular basis of late-life globoid cell leukodystrophy.

De Gasperi R, Gama Sosa MA, Sartorato E, Battistini S, Raghavan S, Kolodny EH. De Gasperi R, et al. Hum Mutat. 1999;14(3):256-62. doi: 10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6. Hum Mutat. 1999. PMID: 10477434

5

Modeling human neurodegenerative diseases in transgenic systems.

Gama Sosa MA, De Gasperi R, Elder GA. Gama Sosa MA, et al. Among authors: de gasperi r. Hum Genet. 2012 Apr;131(4):535-63. doi: 10.1007/s00439-011-1119-1. Epub 2011 Dec 14. Hum Genet. 2012. PMID: 22167414 Review.

6

Substitution of alanine543 with a threonine residue at the carboxy terminal end of the beta-chain is associated with thermolabile hexosaminidase B in a Jewish family of Oriental ancestry.

De Gasperi R, Gama Sosa MA, Grebner EE, Mansfield D, Battistini S, Sartorato EL, Raghavan SS, Davis JG, Kolodny EH. De Gasperi R, et al. Biochem Mol Med. 1995 Oct;56(1):31-6. doi: 10.1006/bmme.1995.1053. Biochem Mol Med. 1995. PMID: 8593535 Free article.

7

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.

De Gasperi R, Gama Sosa MA, Battistini S, Yeretsian J, Raghavan S, Zelnik N, Leshinsky E, Kolodny EH. De Gasperi R, et al. Neurology. 1996 Aug;47(2):547-52. doi: 10.1212/wnl.47.2.547. Neurology. 1996. PMID: 8757036

8

Intrathecal synthesis of anti-sulfatide IgG is associated with peripheral nerve disease in acquired immunodeficiency syndrome.

De Gasperi R, Angel M, Sosa G, Patarca R, Battistini S, Lamoreux MR, Raghavan S, Kowall NW, Smith KH, Fletcher MA, Kolodny EH. De Gasperi R, et al. AIDS Res Hum Retroviruses. 1996 Feb 10;12(3):205-11. doi: 10.1089/aid.1996.12.205. AIDS Res Hum Retroviruses. 1996. PMID: 8835198

9

A human kidney cDNA which induces a cell surface protein epitope recognized by a monoclonal antibody against galactosylceramide.

Sosa MA, De Gasperi R, Battistini S, Gorman MP, Kolodny R, Kolodny EH. Sosa MA, et al. Among authors: de gasperi r. Biochem Biophys Res Commun. 1996 Oct 14;227(2):636-41. doi: 10.1006/bbrc.1996.1557. Biochem Biophys Res Commun. 1996. PMID: 8878564 Free article.

10

Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy).

deGasperi R, Raghavan SS, Sosa MG, Kolodny EH, Carrier C, Rubenstein P, Peters C, Wagner J, Kurtzberg J, Krivit W. deGasperi R, et al. Bone Marrow Transplant. 2000 Mar;25(5):541-4. doi: 10.1038/sj.bmt.1702185. Bone Marrow Transplant. 2000. PMID: 10713632

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