(Q38014265)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Gene therapy for Leber congenital amaurosis: advances and future directions (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

0 references

0 references

Leber congenital amaurosis

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Zelia M Correa

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Robert A Sisk

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Zubair M Ahmed

series ordinal

2

1 reference

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2 February 2020

publication date

29 May 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json

Graefe's Archive for Clinical and Experimental Ophthalmology

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

250

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

1117-1128

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json

Effect of gene therapy on visual function in Leber's congenital amaurosis

2 February 2020

cites work

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Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

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Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year

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Vision 1 year after gene therapy for Leber's congenital amaurosis

21 January 2018

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Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

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21 January 2018

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Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

21 January 2018

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

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Theodor Leber: a founder of ophthalmic research

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Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

21 January 2018

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Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa

21 January 2018

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Functional evaluation in central retinitis pigmentosa

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Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene

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Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

21 January 2018

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Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

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Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

21 January 2018

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Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

21 January 2018

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Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis

21 January 2018

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Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

21 January 2018

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Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

21 January 2018

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Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

21 January 2018

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The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65

21 January 2018

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Downregulation of cone-specific gene expression and degeneration of cone photoreceptors in the Rpe65-/- mouse at early ages

21 January 2018

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Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

21 January 2018

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Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65.

21 January 2018

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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

21 January 2018

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Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness

21 January 2018

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Subretinal delivery of adeno-associated virus serotype 2 results in minimal immune responses that allow repeat vector administration in immunocompetent mice.

21 January 2018

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Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog.

21 January 2018

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21 January 2018

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In utero gene therapy rescues vision in a murine model of congenital blindness

21 January 2018

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Recombinant adeno-associated virus type 2-mediated gene delivery into the Rpe65-/- knockout mouse eye results in limited rescue

21 January 2018

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Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis

21 January 2018

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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

21 January 2018

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Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis

21 January 2018

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21 January 2018

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21 January 2018

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Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse.

21 January 2018

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21 January 2018

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Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis

21 January 2018

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Regulation of retinal function but nonrescue of vision in RPE65-deficient dogs treated with doxycycline-regulatable AAV vectors

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations

21 January 2018

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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

21 January 2018

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Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse.

21 January 2018

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Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining

21 January 2018

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Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1

21 January 2018

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Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy

21 January 2018

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The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes

21 January 2018

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Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction

21 January 2018

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Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1.

21 January 2018

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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

21 January 2018

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Mutations in RPE65 cause Leber's congenital amaurosis

21 January 2018

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The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

21 January 2018

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Null RPGRIP1 alleles in patients with Leber congenital amaurosis

21 January 2018

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Mutations in the CRB1 gene cause Leber congenital amaurosis

21 January 2018

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Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium

21 January 2018

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Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer

21 January 2018

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The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation ofRPE65and Differentiation from Leber Congenital Amaurosis

21 January 2018

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Lentiviral vectors containing a retinal pigment epithelium specific promoter for leber congenital amaurosis gene therapy. Lentiviral gene therapy for LCA.

21 January 2018

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12 December 2020

Amaurosis congenita (Leber)

1 reference

12 December 2020

Mutational analysis and clinical correlation in Leber congenital amaurosis

1 reference

12 December 2020

The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients

1 reference

12 December 2020

[Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia]

1 reference

12 December 2020

Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis

1 reference

12 December 2020

ERG and VEP follow-up study in children with Leber's congenital amaurosis

1 reference

12 December 2020

Technical brief: subretinal injection and electroporation into adult mouse eyes

1 reference

12 December 2020

Gene therapy restores vision in a canine model of childhood blindness

1 reference

12 December 2020

Case 15-2009: a man with coma after cardiac arrest

1 reference

12 December 2020

Vision in Leber congenital amaurosis

1 reference

12 December 2020

10.1007/S00417-012-2028-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

2 February 2020

1002351335

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22644094%20AND%20SRC:MED&resulttype=core&format=json