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A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes.
Swier VJ, White KA, Johnson TB, Wang X, Han J, Pearce DA, Singh R, Drack AV, Pfeifer W, Rogers CS, Brudvig JJ, Weimer JM. Swier VJ, et al. Among authors: drack av. Dis Model Mech. 2023 Aug 1;16(8):dmm050038. doi: 10.1242/dmm.050038. Epub 2023 Aug 7. Dis Model Mech. 2023. PMID: 37305926 Free PMC article.
Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model.
Hsu Y, Bhattarai S, Thompson JM, Mahoney A, Thomas J, Mayer SK, Datta P, Garrison J, Searby CC, Vandenberghe LH, Seo S, Sheffield VC, Drack AV. Hsu Y, et al. Among authors: drack av. Mol Ther Nucleic Acids. 2022 Dec 12;31:164-181. doi: 10.1016/j.omtn.2022.12.007. eCollection 2023 Mar 14. Mol Ther Nucleic Acids. 2022. PMID: 36700052 Free PMC article.
Alström syndrome caused by maternal uniparental disomy.
Lopour MQR, Schimmenti LA, Boczek NJ, Kearney HM, Drack AV, Brodsky MC. Lopour MQR, et al. Among authors: drack av. Am J Ophthalmol Case Rep. 2022 Dec 31;29:101745. doi: 10.1016/j.ajoc.2022.101745. eCollection 2023 Mar. Am J Ophthalmol Case Rep. 2022. PMID: 36636630 Free PMC article.
Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis.
Freedman SF, Del Monte MA, Diva U, Donahue SP, Drack AV, Dutta R, Fung SSM, Imperiale M, Jordan CO, Lenhart PD, Lim ME, McCourt EA, Nihalani BR, Sabahi T, Stahl ED, Miraldi Utz VA, Wilson ME Jr, Yen KG, VanderVeen DK. Freedman SF, et al. Among authors: drack av. J AAPOS. 2023 Aug;27(4):208-211. doi: 10.1016/j.jaapos.2023.04.013. Epub 2023 Jun 14. J AAPOS. 2023. PMID: 37321343 Free article.
105 results