(Q87404711)

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Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial

scientific article published on 13 July 2014

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9 March 2020

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial (English)

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9 March 2020

Leber congenital amaurosis

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Ruifang Sui

2

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9 March 2020

L Ingeborgh van den Born

4

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9 March 2020

Radwan Ajlan

5

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9 March 2020

Ayesha Khan

6

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9 March 2020

Anneke I den Hollander

7

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9 March 2020

Frans P M Cremers

8

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9 March 2020

Janine D Mendola

9

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9 March 2020

Ava K Bittner

10

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9 March 2020

Gislin Dagnelie

11

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9 March 2020

Ronald A Schuchard

12

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9 March 2020

David A Saperstein

13

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9 March 2020

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13 July 2014

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9 March 2020

1 reference

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9 March 2020

384

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9 March 2020

9953

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9 March 2020

1513-1520

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9 March 2020

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

An overview of Leber congenital amaurosis: a model to understand human retinal development

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Leber congenital amaurosis: genes, proteins and disease mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

G protein-coupled receptor rhodopsin

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Visual Pathways

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Retinopathy in mice induced by disrupted all-trans-retinal clearance

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Improvement of visual performance with intravitreal administration of 9-cis-retinal in Rpe65-mutant dogs.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Safety and efficacy of gene transfer for Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Retinoids for treatment of retinal diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Recovery of visual functions in a mouse model of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Test-retest, within-visit variability of Goldmann visual fields in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Smoothing and cluster thresholding for cortical surface-based group analysis of fMRI data

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A neural mechanism for exacerbation of headache by light

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960153-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0140-6736(14)60153-7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25030840%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25030840%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

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