Garafalo AV - Search Results

1

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.

Mascio AA, Roman AJ, Cideciyan AV, Sheplock R, Wu V, Garafalo AV, Sumaroka A, Pirkle S, Kohl S, Wissinger B, Jacobson SG, Barbur JL. Mascio AA, et al. Among authors: garafalo av. Transl Vis Sci Technol. 2023 Jan 3;12(1):25. doi: 10.1167/tvst.12.1.25. Transl Vis Sci Technol. 2023. PMID: 36692456 Free PMC article.

2

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. McGuigan DB, et al. Among authors: garafalo av. Genes (Basel). 2017 Jul 12;8(7):178. doi: 10.3390/genes8070178. Genes (Basel). 2017. PMID: 28704921 Free PMC article.

3

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. Calzetti G, et al. Among authors: garafalo av. Am J Ophthalmol. 2018 Sep;193:114-129. doi: 10.1016/j.ajo.2018.06.017. Epub 2018 Jun 25. Am J Ophthalmol. 2018. PMID: 29953849

4

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. Garafalo AV, et al. Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3209-3219. doi: 10.1167/iovs.18-24518. Invest Ophthalmol Vis Sci. 2018. PMID: 29971438

5

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. Cideciyan AV, et al. Among authors: garafalo av. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4558-4566. doi: 10.1167/iovs.18-24931. Invest Ophthalmol Vis Sci. 2018. PMID: 30208424

6

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. Sumaroka A, et al. Among authors: garafalo av. Invest Ophthalmol Vis Sci. 2018 Dec 3;59(15):5762-5772. doi: 10.1167/iovs.18-25280. Invest Ophthalmol Vis Sci. 2018. PMID: 30516820

7

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. Cideciyan AV, et al. Among authors: garafalo av. Nat Med. 2019 Feb;25(2):225-228. doi: 10.1038/s41591-018-0295-0. Epub 2018 Dec 17. Nat Med. 2019. PMID: 30559420 Clinical Trial.

8

Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials.

Roman AJ, Powers CA, Semenov EP, Sheplock R, Aksianiuk V, Russell RC, Sumaroka A, Garafalo AV, Cideciyan AV, Jacobson SG. Roman AJ, et al. Among authors: garafalo av. Int J Mol Sci. 2019 May 21;20(10):2497. doi: 10.3390/ijms20102497. Int J Mol Sci. 2019. PMID: 31117170 Free PMC article.

9

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.

Sumaroka A, Garafalo AV, Semenov EP, Sheplock R, Krishnan AK, Roman AJ, Jacobson SG, Cideciyan AV. Sumaroka A, et al. Among authors: garafalo av. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2551-2562. doi: 10.1167/iovs.19-27156. Invest Ophthalmol Vis Sci. 2019. PMID: 31212307 Free PMC article.

10

Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.

Garafalo AV, Cideciyan AV, Héon E, Sheplock R, Pearson A, WeiYang Yu C, Sumaroka A, Aguirre GD, Jacobson SG. Garafalo AV, et al. Prog Retin Eye Res. 2020 Jul;77:100827. doi: 10.1016/j.preteyeres.2019.100827. Epub 2019 Dec 30. Prog Retin Eye Res. 2020. PMID: 31899291 Free PMC article. Review.

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