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Items: 1 to 20 of 199

1.

Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision.

Cideciyan AV, Jacobson SG.

Invest Ophthalmol Vis Sci. 2019 Apr 1;60(5):1680-1695. doi: 10.1167/iovs.19-26672. No abstract available.

PMID:
31009524
2.

A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.

Peshenko IV, Cideciyan AV, Sumaroka A, Olshevskaya EV, Scholten A, Abbas S, Koch KW, Jacobson SG, Dizhoor AM.

J Biol Chem. 2019 Mar 8;294(10):3476-3488. doi: 10.1074/jbc.RA118.006180. Epub 2019 Jan 8.

PMID:
30622141
3.

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.

Cideciyan AV, Jacobson SG, Drack AV, Ho AC, Charng J, Garafalo AV, Roman AJ, Sumaroka A, Han IC, Hochstedler MD, Pfeifer WL, Sohn EH, Taiel M, Schwartz MR, Biasutto P, Wit W, Cheetham ME, Adamson P, Rodman DM, Platenburg G, Tome MD, Balikova I, Nerinckx F, Zaeytijd J, Van Cauwenbergh C, Leroy BP, Russell SR.

Nat Med. 2019 Feb;25(2):225-228. doi: 10.1038/s41591-018-0295-0. Epub 2018 Dec 17.

PMID:
30559420
4.

Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations.

Sumaroka A, Garafalo AV, Cideciyan AV, Charng J, Roman AJ, Choi W, Saxena S, Aksianiuk V, Kohl S, Wissinger B, Jacobson SG.

Invest Ophthalmol Vis Sci. 2018 Dec 3;59(15):5762-5772. doi: 10.1167/iovs.18-25280.

PMID:
30516820
5.

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

Charng J, Cideciyan AV, Jacobson SG, Sumaroka A, Schwartz SB, Swider M, Roman AJ, Sheplock R, Anand M, Peden MC, Khanna H, Heon E, Wright AF, Swaroop A.

Hum Mol Genet. 2019 Jan 1;28(1):175. doi: 10.1093/hmg/ddy342. No abstract available.

6.

Translational Retinal Research and Therapies.

Hardcastle AJ, Sieving PA, Sahel JA, Jacobson SG, Cideciyan AV, Flannery JG, Beltran WA, Aguirre GD.

Transl Vis Sci Technol. 2018 Sep 13;7(5):8. doi: 10.1167/tvst.7.5.8. eCollection 2018 Sep.

7.

Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years.

Cideciyan AV, Charng J, Roman AJ, Sheplock R, Garafalo AV, Heon E, Jacobson SG.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4558-4566. doi: 10.1167/iovs.18-24931.

PMID:
30208424
8.

Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector.

Cideciyan AV, Sudharsan R, Dufour VL, Massengill MT, Iwabe S, Swider M, Lisi B, Sumaroka A, Marinho LF, Appelbaum T, Rossmiller B, Hauswirth WW, Jacobson SG, Lewin AS, Aguirre GD, Beltran WA.

Proc Natl Acad Sci U S A. 2018 Sep 4;115(36):E8547-E8556. doi: 10.1073/pnas.1805055115. Epub 2018 Aug 20.

9.

Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.

Garafalo AV, Calzetti G, Cideciyan AV, Roman AJ, Saxena S, Sumaroka A, Choi W, Wright AF, Jacobson SG.

Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3209-3219. doi: 10.1167/iovs.18-24518.

PMID:
29971438
10.

Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation.

Calzetti G, Levy RA, Cideciyan AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG.

Am J Ophthalmol. 2018 Sep;193:114-129. doi: 10.1016/j.ajo.2018.06.017. Epub 2018 Jun 25.

PMID:
29953849
11.

Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group; On behalf of the ProgStar Study Group.

Br J Ophthalmol. 2019 Mar;103(3):390-397. doi: 10.1136/bjophthalmol-2018-312064. Epub 2018 Jun 20.

12.

Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10.

Kong X, Fujinami K, Strauss RW, Munoz B, West SK, Cideciyan AV, Michaelides M, Ahmed M, Ervin AM, Schönbach E, Cheetham JK, Scholl HPN; ProgStar Study Group.

JAMA Ophthalmol. 2018 Aug 1;136(8):920-928. doi: 10.1001/jamaophthalmol.2018.2198.

PMID:
29902293
13.

Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12.

Schönbach EM, Strauss RW, Kong X, Muñoz B, Ibrahim MA, Sunness JS, Birch DG, Hahn GA, Nasser F, Zrenner E, Sadda SR, West SK, Scholl HPN; ProgStar Study Group.

Am J Ophthalmol. 2018 Sep;193:54-61. doi: 10.1016/j.ajo.2018.06.003. Epub 2018 Jun 8.

PMID:
29890160
14.

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.

Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV.

Am J Ophthalmol. 2018 Jun;190:58-68. doi: 10.1016/j.ajo.2018.03.021. Epub 2018 Mar 17.

PMID:
29559409
15.

BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.

Guziewicz KE, Cideciyan AV, Beltran WA, Komáromy AM, Dufour VL, Swider M, Iwabe S, Sumaroka A, Kendrick BT, Ruthel G, Chiodo VA, Héon E, Hauswirth WW, Jacobson SG, Aguirre GD.

Proc Natl Acad Sci U S A. 2018 Mar 20;115(12):E2839-E2848. doi: 10.1073/pnas.1720662115. Epub 2018 Mar 5.

16.

Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9).

Strauss RW, Muñoz B, Ho A, Jha A, Michaelides M, Cideciyan AV, Audo I, Birch DG, Hariri AH, Nittala MG, Sadda S, West S, Scholl HPN; ProgStar Study Group.

JAMA Ophthalmol. 2017 Nov 1;135(11):1232-1241. doi: 10.1001/jamaophthalmol.2017.4152.

17.

Imaging Lenticular Autofluorescence in Older Subjects.

Charng J, Tan R, Luu CD, Sadigh S, Stambolian D, Guymer RH, Jacobson SG, Cideciyan AV.

Invest Ophthalmol Vis Sci. 2017 Oct 1;58(12):4940-4947. doi: 10.1167/iovs.17-22540.

18.

Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.

Stanton CM, Borooah S, Drake C, Marsh JA, Campbell S, Lennon A, Soares DC, Vallabh NA, Sahni J, Cideciyan AV, Dhillon B, Vitart V, Jacobson SG, Wright AF, Hayward C.

Sci Rep. 2017 Sep 22;7(1):12147. doi: 10.1038/s41598-017-11898-3.

19.

Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness.

Sears AE, Bernstein PS, Cideciyan AV, Hoyng C, Charbel Issa P, Palczewski K, Rosenfeld PJ, Sadda S, Schraermeyer U, Sparrow JR, Washington I, Scholl HPN.

Transl Vis Sci Technol. 2017 Sep 14;6(5):6. doi: 10.1167/tvst.6.5.6. eCollection 2017 Sep. Review.

20.

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.

McGuigan DB, Heon E, Cideciyan AV, Ratnapriya R, Lu M, Sumaroka A, Roman AJ, Batmanabane V, Garafalo AV, Stone EM, Swaroop A, Jacobson SG.

Genes (Basel). 2017 Jul 12;8(7). pii: E178. doi: 10.3390/genes8070178.

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