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Page 1
Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease.
Ottinger EA, Kao ML, Carrillo-Carrasco N, Yanjanin N, Shankar RK, Janssen M, Brewster M, Scott I, Xu X, Cradock J, Terse P, Dehdashti SJ, Marugan J, Zheng W, Portilla L, Hubbs A, Pavan WJ, Heiss J, Vite CH, Walkley SU, Ory DS, Silber SA, Porter FD, Austin CP, McKew JC. Ottinger EA, et al. Curr Top Med Chem. 2014;14(3):330-9. doi: 10.2174/1568026613666131127160118. Curr Top Med Chem. 2014. PMID: 24283970 Free PMC article. Review.
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T. Patterson MC, et al. Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Neurol Clin Pract. 2017. PMID: 29431164 Free PMC article. Review.
Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.
Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R, Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI, Sidransky E. Tayebi N, et al. Mol Genet Metab. 2017 Dec;122(4):198-208. doi: 10.1016/j.ymgme.2017.11.001. Epub 2017 Nov 21. Mol Genet Metab. 2017. PMID: 29173981 Free PMC article.
Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS. Jiang X, et al. Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326. Sci Transl Med. 2016. PMID: 27147587 Free PMC article.
25 results