Pastores GM - Search Results

1

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Wang ZH, Torres PA, Pastores GM, Leone P, Raghavan SS, Kolodny EH. Zeng BJ, et al. Among authors: pastores gm. Mol Genet Metab. 2006 Sep-Oct;89(1-2):156-63. doi: 10.1016/j.ymgme.2006.05.014. Epub 2006 Jul 18. Mol Genet Metab. 2006. PMID: 16854607

2

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.

Janson CG, Kolodny EH, Zeng BJ, Raghavan S, Pastores G, Torres P, Assadi M, McPhee S, Goldfarb O, Saslow B, Freese A, Wang DJ, Bilaniuk L, Shera D, Leone P. Janson CG, et al. Ann Neurol. 2006 Feb;59(2):428-31. doi: 10.1002/ana.20787. Ann Neurol. 2006. PMID: 16437572

3

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Pastores GM, Leone P, Raghavan S, Wang ZH, Ribeiro LA, Torres P, Ong E, Kolodny EH. Zeng BJ, et al. Among authors: pastores gm. Adv Exp Med Biol. 2006;576:165-73; discussion 361-3. doi: 10.1007/0-387-30172-0_11. Adv Exp Med Biol. 2006. PMID: 16802711 No abstract available.

4

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH. Zeng BJ, et al. Among authors: pastores gm. J Inherit Metab Dis. 2002 Nov;25(7):557-70. doi: 10.1023/a:1022091223498. J Inherit Metab Dis. 2002. PMID: 12638939

5

Spontaneous appearance of Tay-Sachs disease in an animal model.

Zeng BJ, Torres PA, Viner TC, Wang ZH, Raghavan SS, Alroy J, Pastores GM, Kolodny EH. Zeng BJ, et al. Among authors: pastores gm. Mol Genet Metab. 2008 Sep-Oct;95(1-2):59-65. doi: 10.1016/j.ymgme.2008.06.010. Epub 2008 Aug 9. Mol Genet Metab. 2008. PMID: 18693054

6

Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.

Wang ZH, Zeng B, Pastores GM, Raksadawan N, Ong E, Kolodny EH. Wang ZH, et al. Among authors: pastores gm. Genet Test. 2001 Summer;5(2):87-92. doi: 10.1089/109065701753145529. Genet Test. 2001. PMID: 11551108

7

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.

Pierson TM, Torres PA, Zeng BJ, Glanzman AM, Adams D, Finkel RS, Mahuran DJ, Pastores GM, Tennekoon GI, Kolodny EH. Pierson TM, et al. Among authors: pastores gm. Mol Genet Metab. 2013 Jan;108(1):65-9. doi: 10.1016/j.ymgme.2012.10.023. Epub 2012 Nov 2. Mol Genet Metab. 2013. PMID: 23158871 Free PMC article.

8

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. Neudorfer O, et al. Among authors: pastores gm. Genet Med. 2005 Feb;7(2):119-23. doi: 10.1097/01.gim.0000154300.84107.75. Genet Med. 2005. PMID: 15714079

9

Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.

Raghavan S, Zeng B, Torres PA, Pastores GM, Kolodny EH, Kurtzberg J, Krivit W. Raghavan S, et al. Among authors: pastores gm. J Inherit Metab Dis. 2005;28(6):1005-9. doi: 10.1007/s10545-005-4138-z. J Inherit Metab Dis. 2005. PMID: 16435193

10

Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. Puckett RL, et al. Among authors: pastores gm. Mol Genet Metab. 2012 Jan;105(1):126-31. doi: 10.1016/j.ymgme.2011.10.010. Epub 2011 Oct 25. Mol Genet Metab. 2012. PMID: 22115770

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