scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1002351335 |
P356 | DOI | 10.1007/S00417-012-2028-2 |
P698 | PubMed publication ID | 22644094 |
P5875 | ResearchGate publication ID | 225073408 |
P50 | author | Zelia M Correa | Q39764901 |
Robert B Hufnagel | Q55712686 | ||
Robert A Sisk | Q56850835 | ||
P2093 | author name string | Zubair M Ahmed | |
P2860 | cites work | Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis | Q21144697 |
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy | Q24317514 | ||
Null RPGRIP1 alleles in patients with Leber congenital amaurosis | Q24533477 | ||
Vision 1 year after gene therapy for Leber's congenital amaurosis | Q24607981 | ||
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 | Q24608049 | ||
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration | Q24627838 | ||
The human visual cortex responds to gene therapy-mediated recovery of retinal function | Q24629697 | ||
Safety and efficacy of gene transfer for Leber's congenital amaurosis | Q24634724 | ||
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year | Q24634801 | ||
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis | Q24685618 | ||
Recombinant adeno-associated virus type 2-mediated gene delivery into the Rpe65-/- knockout mouse eye results in limited rescue | Q24802168 | ||
Dosage thresholds for AAV2 and AAV8 photoreceptor gene therapy in monkey | Q27329160 | ||
Mutations in the CRB1 gene cause Leber congenital amaurosis | Q28202971 | ||
Mutations in RPE65 cause Leber's congenital amaurosis | Q28250918 | ||
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2). | Q39364826 | ||
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa | Q39909289 | ||
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients | Q40179772 | ||
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis | Q40292682 | ||
Recombinant adeno-associated virus serotype 4 mediates unique and exclusive long-term transduction of retinal pigmented epithelium in rat, dog, and nonhuman primate after subretinal delivery | Q40583540 | ||
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis | Q42958512 | ||
Gene therapy restores vision in a canine model of childhood blindness | Q43590733 | ||
Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene | Q43887400 | ||
Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. | Q44376450 | ||
In utero gene therapy rescues vision in a murine model of congenital blindness | Q44753954 | ||
Functional evaluation in central retinitis pigmentosa | Q45010708 | ||
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection | Q45417238 | ||
Postsurgical assessment and long-term safety of recombinant adeno-associated virus-mediated gene transfer into the retinas of dogs and primates | Q45483961 | ||
Long-term doxycycline-regulated transgene expression in the retina of nonhuman primates following subretinal injection of recombinant AAV vectors | Q45855564 | ||
Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining | Q45862739 | ||
Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium | Q45863029 | ||
Lentiviral vectors containing a retinal pigment epithelium specific promoter for leber congenital amaurosis gene therapy. Lentiviral gene therapy for LCA. | Q45865415 | ||
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy | Q45869158 | ||
Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis | Q45887612 | ||
Theodor Leber: a founder of ophthalmic research | Q48969484 | ||
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. | Q52532886 | ||
The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation ofRPE65and Differentiation from Leber Congenital Amaurosis | Q57784505 | ||
The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients | Q68081738 | ||
Vision in Leber congenital amaurosis | Q71098155 | ||
Mutational analysis and clinical correlation in Leber congenital amaurosis | Q73087273 | ||
[Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia] | Q73583945 | ||
ERG and VEP follow-up study in children with Leber's congenital amaurosis | Q77969716 | ||
Amaurosis congenita (Leber) | Q78500638 | ||
Case 15-2009: a man with coma after cardiac arrest | Q95802924 | ||
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture | Q28255087 | ||
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial | Q28262431 | ||
Effect of gene therapy on visual function in Leber's congenital amaurosis | Q28277981 | ||
Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness | Q28279062 | ||
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis | Q28298481 | ||
The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65 | Q28593641 | ||
Regulation of retinal function but nonrescue of vision in RPE65-deficient dogs treated with doxycycline-regulatable AAV vectors | Q30495021 | ||
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years | Q30537764 | ||
AAV2 gene therapy readministration in three adults with congenital blindness. | Q30587265 | ||
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer | Q33315634 | ||
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations | Q33584461 | ||
Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse. | Q33622429 | ||
Subretinal delivery of adeno-associated virus serotype 2 results in minimal immune responses that allow repeat vector administration in immunocompetent mice. | Q33739804 | ||
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success | Q33771032 | ||
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis | Q33845544 | ||
Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. | Q33857732 | ||
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy | Q33992484 | ||
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations | Q34332943 | ||
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. | Q35442947 | ||
Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse. | Q35518971 | ||
Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1 | Q35522527 | ||
Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1. | Q35561447 | ||
Nanotechnology and nanotoxicology in retinopathy | Q35600266 | ||
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness | Q36825024 | ||
Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction | Q36915431 | ||
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics | Q36937189 | ||
Technical brief: subretinal injection and electroporation into adult mouse eyes | Q36995732 | ||
Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors | Q37292973 | ||
Nanoparticles for retinal gene therapy | Q37746102 | ||
Downregulation of cone-specific gene expression and degeneration of cone photoreceptors in the Rpe65-/- mouse at early ages | Q38328841 | ||
Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis | Q38639460 | ||
Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. | Q38891357 | ||
The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes | Q38914398 | ||
Gene therapy in ophthalmology: validation on cultured retinal cells and explants from postmortem human eyes | Q39009982 | ||
P433 | issue | 8 | |
P921 | main subject | gene therapy | Q213901 |
congenital disorder | Q727096 | ||
Leber congenital amaurosis | Q1811132 | ||
P304 | page(s) | 1117-1128 | |
P577 | publication date | 2012-05-29 | |
P1433 | published in | Graefe's Archive for Clinical and Experimental Ophthalmology | Q15757667 |
P1476 | title | Gene therapy for Leber congenital amaurosis: advances and future directions | |
P478 | volume | 250 |
Q48204571 | A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). |
Q28544830 | A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro |
Q37091380 | A review of therapeutic prospects of non-viral gene therapy in the retinal pigment epithelium |
Q27318539 | AAV2 delivery of Flt23k intraceptors inhibits murine choroidal neovascularization |
Q39306038 | Applications of CRISPR/Cas9 in retinal degenerative diseases |
Q35152826 | Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis |
Q38120835 | Genetic testing for inherited ocular disease: delivering on the promise at last? |
Q37136391 | Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. |
Q35805426 | Improvement in vision: a new goal for treatment of hereditary retinal degenerations |
Q37609110 | Laboratory and clinical reliability of conformally coated subretinal implants |
Q38915580 | Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations |
Q28582445 | Long-term efficacy of ciliary muscle gene transfer of three sFlt-1 variants in a rat model of laser-induced choroidal neovascularization |
Q34996941 | Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients |
Q41108843 | Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. |
Q37381112 | Persistence of non-viral vector mediated RPE65 expression: case for viability as a gene transfer therapy for RPE-based diseases |
Q28077029 | Retinol Dehydrogenases Regulate Vitamin A Metabolism for Visual Function |
Q37718516 | Targeted Multifunctional Lipid ECO Plasmid DNA Nanoparticles as Efficient Non-viral Gene Therapy for Leber's Congenital Amaurosis |
Q45875271 | The Progress of Gene Therapy for Leber`s Optic Hereditary Neuropathy |
Q42261520 | The prevalence of neutralizing antibodies against adeno-associated virus capsids is reduced in young Japanese individuals |
Q86138866 | Translating genome engineering to better clinical outcomes |
Q34764453 | Translational models of ocular disease |
Q37083819 | Vitamin A derivatives as treatment options for retinal degenerative diseases |
Q36887018 | rAAV-compatible MiniPromoters for restricted expression in the brain and eye. |
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