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First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia.
Michaelides M, Hirji N, Wong SC, Besirli CG, Zaman S, Kumaran N, Georgiadis A, Smith AJ, Ripamonti C, Gottlob I, Robson AG, Thiadens A, Henderson RH, Fleck P, Anglade E, Dong X, Capuano G, Lu W, Berry P, Kane T, Naylor S, Georgiou M, Kalitzeos A, Ali RR, Forbes A, Bainbridge J. Michaelides M, et al. Among authors: robson ag. Am J Ophthalmol. 2023 Sep;253:243-251. doi: 10.1016/j.ajo.2023.05.009. Epub 2023 May 11. Am J Ophthalmol. 2023. PMID: 37172884 Free article. Clinical Trial.
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Wu H, et al. Among authors: robson ag. Am J Hum Genet. 2006 Sep;79(3):574-9. doi: 10.1086/507568. Epub 2006 Jul 24. Am J Hum Genet. 2006. PMID: 16909397 Free PMC article.
Phenotypic variation in enhanced S-cone syndrome.
Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE. Audo I, et al. Among authors: robson ag. Invest Ophthalmol Vis Sci. 2008 May;49(5):2082-93. doi: 10.1167/iovs.05-1629. Invest Ophthalmol Vis Sci. 2008. PMID: 18436841
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL. Michaelides M, et al. Among authors: robson ag. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4771-80. doi: 10.1167/iovs.09-4561. Epub 2010 Apr 14. Invest Ophthalmol Vis Sci. 2010. PMID: 20393116 Free PMC article.
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ. Gardner JC, et al. Among authors: robson ag. Am J Hum Genet. 2010 Jul 9;87(1):26-39. doi: 10.1016/j.ajhg.2010.05.019. Epub 2010 Jun 24. Am J Hum Genet. 2010. PMID: 20579627 Free PMC article.
207 results