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Page 1
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Khan M, Arno G, Fakin A, Parfitt DA, Dhooge PPA, Albert S, Bax NM, Duijkers L, Niblock M, Hau KL, Bloch E, Schiff ER, Piccolo D, Hogden MC, Hoyng CB, Webster AR, Cremers FPM, Cheetham ME, Garanto A, Collin RWJ. Khan M, et al. Among authors: parfitt da. Mol Ther Nucleic Acids. 2020 Sep 4;21:412-427. doi: 10.1016/j.omtn.2020.06.007. Epub 2020 Jun 12. Mol Ther Nucleic Acids. 2020. PMID: 32653833 Free PMC article.
AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.
Aguilà M, Bellingham J, Athanasiou D, Bevilacqua D, Duran Y, Maswood R, Parfitt DA, Iwawaki T, Spyrou G, Smith AJ, Ali RR, Cheetham ME. Aguilà M, et al. Among authors: parfitt da. Hum Mol Genet. 2020 May 28;29(8):1310-1318. doi: 10.1093/hmg/ddaa049. Hum Mol Genet. 2020. PMID: 32196553 Free PMC article.
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.
Dulla K, Aguila M, Lane A, Jovanovic K, Parfitt DA, Schulkens I, Chan HL, Schmidt I, Beumer W, Vorthoren L, Collin RWJ, Garanto A, Duijkers L, Brugulat-Panes A, Semo M, Vugler AA, Biasutto P, Adamson P, Cheetham ME. Dulla K, et al. Among authors: parfitt da. Mol Ther Nucleic Acids. 2018 Sep 7;12:730-740. doi: 10.1016/j.omtn.2018.07.010. Epub 2018 Jul 23. Mol Ther Nucleic Acids. 2018. PMID: 30114557 Free PMC article.
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C, Parfitt DA, Li W, Gittings LM, Cheetham ME. Zarouchlioti C, et al. Among authors: parfitt da. Philos Trans R Soc Lond B Biol Sci. 2018 Jan 19;373(1738):20160534. doi: 10.1098/rstb.2016.0534. Philos Trans R Soc Lond B Biol Sci. 2018. PMID: 29203718 Free PMC article. Review.
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ, Chapple JP, Hardcastle AJ, Cheetham ME. Schwarz N, et al. Among authors: parfitt da. Hum Mol Genet. 2017 Sep 1;26(17):3451. doi: 10.1093/hmg/ddx245. Hum Mol Genet. 2017. PMID: 28854704 Free PMC article. No abstract available.
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ, Chapple JP, Hardcastle AJ, Cheetham ME. Schwarz N, et al. Among authors: parfitt da. Hum Mol Genet. 2017 Jul 1;26(13):2480-2492. doi: 10.1093/hmg/ddx143. Hum Mol Genet. 2017. PMID: 28444310 Free PMC article.
21 results