352 related articles for article (PubMed ID: 19117922)
1. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Jacobson SG; Aleman TS; Cideciyan AV; Roman AJ; Sumaroka A; Windsor EA; Schwartz SB; Heon E; Stone EM
Invest Ophthalmol Vis Sci; 2009 May; 50(5):2368-75. PubMed ID: 19117922
[TBL] [Abstract][Full Text] [Related]
2. Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.
Caruso RC; Aleman TS; Cideciyan AV; Roman AJ; Sumaroka A; Mullins CL; Boye SL; Hauswirth WW; Jacobson SG
Invest Ophthalmol Vis Sci; 2010 Oct; 51(10):5304-13. PubMed ID: 20484585
[TBL] [Abstract][Full Text] [Related]
3. A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
Lorenz B; Poliakov E; Schambeck M; Friedburg C; Preising MN; Redmond TM
Invest Ophthalmol Vis Sci; 2008 Dec; 49(12):5235-42. PubMed ID: 18599565
[TBL] [Abstract][Full Text] [Related]
4. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Roman AJ; Swider M; Schwartz SB; Banin E; Stone EM
Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):70-9. PubMed ID: 20702822
[TBL] [Abstract][Full Text] [Related]
5. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
Lorenz B; Gyürüs P; Preising M; Bremser D; Gu S; Andrassi M; Gerth C; Gal A
Invest Ophthalmol Vis Sci; 2000 Aug; 41(9):2735-42. PubMed ID: 10937591
[TBL] [Abstract][Full Text] [Related]
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; 52(11):7924-36. PubMed ID: 21873662
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 21911650
[TBL] [Abstract][Full Text] [Related]
8. Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.
Paunescu K; Wabbels B; Preising MN; Lorenz B
Graefes Arch Clin Exp Ophthalmol; 2005 May; 243(5):417-26. PubMed ID: 15565294
[TBL] [Abstract][Full Text] [Related]
9. Clinical course and visual function in a family with mutations in the RPE65 gene.
Felius J; Thompson DA; Khan NW; Bingham EL; Jamison JA; Kemp JA; Sieving PA
Arch Ophthalmol; 2002 Jan; 120(1):55-61. PubMed ID: 11786058
[TBL] [Abstract][Full Text] [Related]
10. Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Windsor EA; Schwartz SB; Heon E; Stone EM
Invest Ophthalmol Vis Sci; 2008 Oct; 49(10):4573-7. PubMed ID: 18539930
[TBL] [Abstract][Full Text] [Related]
11. RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
Aleman TS; Uyhazi KE; Serrano LW; Vasireddy V; Bowman SJ; Ammar MJ; Pearson DJ; Maguire AM; Bennett J
Invest Ophthalmol Vis Sci; 2018 Oct; 59(12):5225-5236. PubMed ID: 30372751
[TBL] [Abstract][Full Text] [Related]
12. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.
Hauswirth WW; Aleman TS; Kaushal S; Cideciyan AV; Schwartz SB; Wang L; Conlon TJ; Boye SL; Flotte TR; Byrne BJ; Jacobson SG
Hum Gene Ther; 2008 Oct; 19(10):979-90. PubMed ID: 18774912
[TBL] [Abstract][Full Text] [Related]
13. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
Jacobson SG; Cideciyan AV; Huang Y; Hanna DB; Freund CL; Affatigato LM; Carr RE; Zack DJ; Stone EM; McInnes RR
Invest Ophthalmol Vis Sci; 1998 Nov; 39(12):2417-26. PubMed ID: 9804150
[TBL] [Abstract][Full Text] [Related]
14. Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.
Uyhazi KE; Aravand P; Bell BA; Wei Z; Leo L; Serrano LW; Pearson DJ; Shpylchak I; Pham J; Vasireddy V; Bennett J; Aleman TS
Invest Ophthalmol Vis Sci; 2020 May; 61(5):30. PubMed ID: 32428231
[TBL] [Abstract][Full Text] [Related]
15. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
Weleber RG; Michaelides M; Trzupek KM; Stover NB; Stone EM
Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):292-302. PubMed ID: 20811047
[TBL] [Abstract][Full Text] [Related]
16. Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.
Roman AJ; Boye SL; Aleman TS; Pang JJ; McDowell JH; Boye SE; Cideciyan AV; Jacobson SG; Hauswirth WW
Mol Vis; 2007 Sep; 13():1701-10. PubMed ID: 17960108
[TBL] [Abstract][Full Text] [Related]
17. Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
Galvin JA; Fishman GA; Stone EM; Koenekoop RK
Ophthalmology; 2005 Feb; 112(2):349-56. PubMed ID: 15691574
[TBL] [Abstract][Full Text] [Related]
18. 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; 110(6):E517-25. PubMed ID: 23341635
[TBL] [Abstract][Full Text] [Related]
19. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
Lewis CA; Batlle IR; Batlle KG; Banerjee P; Cideciyan AV; Huang J; Alemán TS; Huang Y; Ott J; Gilliam TC; Knowles JA; Jacobson SG
Invest Ophthalmol Vis Sci; 1999 Aug; 40(9):2106-14. PubMed ID: 10440267
[TBL] [Abstract][Full Text] [Related]
20. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
Aleman TS; Soumittra N; Cideciyan AV; Sumaroka AM; Ramprasad VL; Herrera W; Windsor EA; Schwartz SB; Russell RC; Roman AJ; Inglehearn CF; Kumaramanickavel G; Stone EM; Fishman GA; Jacobson SG
Invest Ophthalmol Vis Sci; 2009 Dec; 50(12):5944-54. PubMed ID: 19578027
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
