Grinberg D - Search Results

1

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.

Benetó N, Cozar M, Castilla-Vallmanya L, Zetterdahl OG, Sacultanu M, Segur-Bailach E, García-Morant M, Ribes A, Ahlenius H, Grinberg D, Vilageliu L, Canals I. Benetó N, et al. Among authors: grinberg d. J Clin Med. 2020 Feb 28;9(3):644. doi: 10.3390/jcm9030644. J Clin Med. 2020. PMID: 32121121 Free PMC article.

2

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.

Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D. Montfort M, et al. Among authors: grinberg d. Hum Mutat. 1998;12(4):274-9. doi: 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F. Hum Mutat. 1998. PMID: 9744479

3

Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.

Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L. Chabás A, et al. Among authors: grinberg d. Am J Med Genet. 2001 May 1;100(3):223-8. doi: 10.1002/ajmg.1248. Am J Med Genet. 2001. PMID: 11343308

4

Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease.

Diaz-Font A, Cormand B, Chabás A, Vilageliu L, Grinberg D. Diaz-Font A, et al. Among authors: grinberg d. Blood Cells Mol Dis. 2003 Sep-Oct;31(2):183-6. doi: 10.1016/s1079-9796(03)00157-8. Blood Cells Mol Dis. 2003. PMID: 12972023

5

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

Montfort M, Chabás A, Vilageliu L, Grinberg D. Montfort M, et al. Among authors: grinberg d. Hum Mutat. 2004 Jun;23(6):567-75. doi: 10.1002/humu.20043. Hum Mutat. 2004. PMID: 15146461

6

Expression and functional characterization of human mutant sulfamidase in insect cells.

Montfort M, Garrido E, Hopwood JJ, Grinberg D, Chabás A, Vilageliu L. Montfort M, et al. Among authors: grinberg d. Mol Genet Metab. 2004 Nov;83(3):246-51. doi: 10.1016/j.ymgme.2004.07.001. Mol Genet Metab. 2004. PMID: 15542396

7

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.

Díaz-Font A, Santamaría R, Cozar M, Blanco M, Chamoles N, Coll MJ, Chabás A, Vilageliu L, Grinberg D. Díaz-Font A, et al. Among authors: grinberg d. Mol Genet Metab. 2005 Sep-Oct;86(1-2):206-11. doi: 10.1016/j.ymgme.2005.07.004. Mol Genet Metab. 2005. PMID: 16125993

8

Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.

Montfort M, Chabás A, Vilageliu L, Grinberg D. Montfort M, et al. Among authors: grinberg d. Blood Cells Mol Dis. 2006 Jan-Feb;36(1):46-52. doi: 10.1016/j.bcmd.2005.10.002. Epub 2005 Dec 2. Blood Cells Mol Dis. 2006. PMID: 16326120

9

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

Urreizti R, Asteggiano C, Cozar M, Frank N, Vilaseca MA, Grinberg D, Balcells S. Urreizti R, et al. Among authors: grinberg d. Hum Mutat. 2006 Feb;27(2):211. doi: 10.1002/humu.9395. Hum Mutat. 2006. PMID: 16429402

10

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. Santamaria R, et al. Among authors: grinberg d. Hum Mutat. 2006 Oct;27(10):1060. doi: 10.1002/humu.9451. Hum Mutat. 2006. PMID: 16941474

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