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Page 1
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. Among authors: torres pa. 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.
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. Among authors: torres pa. 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.
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
Tay-Sachs disease in Jacob sheep.
Torres PA, Zeng BJ, Porter BF, Alroy J, Horak F, Horak J, Kolodny EH. Torres PA, et al. Mol Genet Metab. 2010 Dec;101(4):357-63. doi: 10.1016/j.ymgme.2010.08.006. Epub 2010 Aug 14. Mol Genet Metab. 2010. PMID: 20817517
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.
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.
45 results