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Items: 7

1.

Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.

Boye SE, Huang WC, Roman AJ, Sumaroka A, Boye SL, Ryals RC, Olivares MB, Ruan Q, Tucker BA, Stone EM, Swaroop A, Cideciyan AV, Hauswirth WW, Jacobson SG.

PLoS One. 2014 Mar 26;9(3):e92928. doi: 10.1371/journal.pone.0092928. eCollection 2014.

2.

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

Cideciyan AV, Jacobson SG, Beltran WA, Sumaroka A, Swider M, Iwabe S, Roman AJ, Olivares MB, Schwartz SB, Komáromy AM, Hauswirth WW, Aguirre GD.

Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E517-25. doi: 10.1073/pnas.1218933110. Epub 2013 Jan 22.

3.

Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.

Roman AJ, Cideciyan AV, Schwartz SB, Olivares MB, Heon E, Jacobson SG.

Invest Ophthalmol Vis Sci. 2013 Feb 15;54(2):1378-83. doi: 10.1167/iovs.12-11341.

4.

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

Jacobson SG, Cideciyan AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, Yau KW, Heon E, Stone EM, Dizhoor AM.

Hum Mol Genet. 2013 Jan 1;22(1):168-83. doi: 10.1093/hmg/dds421. Epub 2012 Oct 3.

5.

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.

Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW.

Arch Ophthalmol. 2012 Jan;130(1):9-24. doi: 10.1001/archophthalmol.2011.298. Epub 2011 Sep 12.

6.

Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS.

Invest Ophthalmol Vis Sci. 2011 Oct 7;52(11):7924-36. doi: 10.1167/iovs.11-8313.

7.

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.

Aleman TS, Cideciyan AV, Aguirre GK, Huang WC, Mullins CL, Roman AJ, Sumaroka A, Olivares MB, Tsai FF, Schwartz SB, Vandenberghe LH, Limberis MP, Stone EM, Bell P, Wilson JM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6898-910. doi: 10.1167/iovs.11-7701.

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