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IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Among authors: dickson pi. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
Dickson PI, Kaitila I, Harmatz P, Mlikotic A, Chen AH, Victoroff A, Passage MB, Madden J, Le SQ, Naylor DE; Mucopolysaccharidosis I Intrathecal Research Collaborative. Dickson PI, et al. Mol Genet Metab. 2015 Sep-Oct;116(1-2):69-74. doi: 10.1016/j.ymgme.2015.07.005. Epub 2015 Jul 26. Mol Genet Metab. 2015. PMID: 26260077 Free PMC article. Clinical Trial.
A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I.
Le SQ, Kan SH, Clarke D, Sanghez V, Egeland M, Vondrak KN, Doherty TM, Vera MU, Iacovino M, Cooper JD, Sands MS, Dickson PI. Le SQ, et al. Among authors: dickson pi. Mol Ther Methods Clin Dev. 2017 Oct 5;8:42-51. doi: 10.1016/j.omtm.2017.09.008. eCollection 2018 Mar 16. Mol Ther Methods Clin Dev. 2017. PMID: 29159202 Free PMC article.
95 results