Torres P - Search Results

1

Involvement of vps33a in the fusion of uroplakin-degrading multivesicular bodies with lysosomes.

Guo X, Tu L, Gumper I, Plesken H, Novak EK, Chintala S, Swank RT, Pastores G, Torres P, Izumi T, Sun TT, Sabatini DD, Kreibich G. Guo X, et al. Among authors: torres p. Traffic. 2009 Sep;10(9):1350-61. doi: 10.1111/j.1600-0854.2009.00950.x. Epub 2009 May 26. Traffic. 2009. PMID: 19566896 Free PMC article.

2

Animal models for lysosomal storage disorders.

Pastores GM, Torres PA, Zeng BJ. Pastores GM, et al. Among authors: torres pa. Biochemistry (Mosc). 2013 Jul;78(7):721-5. doi: 10.1134/S0006297913070043. Biochemistry (Mosc). 2013. PMID: 24010835 Free article. Review.

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: torres p. 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

Association Between Progranulin and Gaucher Disease.

Jian J, Zhao S, Tian QY, Liu H, Zhao Y, Chen WC, Grunig G, Torres PA, Wang BC, Zeng B, Pastores G, Tang W, Sun Y, Grabowski GA, Kong MX, Wang G, Chen Y, Liang F, Overkleeft HS, Saunders-Pullman R, Chan GL, Liu CJ. Jian J, et al. EBioMedicine. 2016 Sep;11:127-137. doi: 10.1016/j.ebiom.2016.08.004. Epub 2016 Aug 4. EBioMedicine. 2016. PMID: 27515686 Free PMC article.

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: torres pa. 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

Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.

Ortega RA, Torres PA, Swan M, Nichols W, Boschung S, Raymond D, Barrett MJ, Johannes BA, Severt L, Shanker V, Hunt AL, Bressman S, Pastores GM, Saunders-Pullman R. Ortega RA, et al. J Clin Neurosci. 2016 Jun;28:185-6. doi: 10.1016/j.jocn.2015.12.004. Epub 2016 Feb 5. J Clin Neurosci. 2016. PMID: 26857292 Free PMC article.

7

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: torres pa. 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

8

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: torres pa. J Inherit Metab Dis. 2005;28(6):1005-9. doi: 10.1007/s10545-005-4138-z. J Inherit Metab Dis. 2005. PMID: 16435193

9

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.

Clark LN, Chan R, Cheng R, Liu X, Park N, Parmalee N, Kisselev S, Cortes E, Torres PA, Pastores GM, Vonsattel JP, Alcalay R, Marder K, Honig LL, Fahn S, Mayeux R, Shelanski M, Di Paolo G, Lee JH. Clark LN, et al. Among authors: torres pa. PLoS One. 2015 May 1;10(5):e0125204. doi: 10.1371/journal.pone.0125204. eCollection 2015. PLoS One. 2015. PMID: 25933391 Free PMC article.

10

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. 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.

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