Lista de obras -

ABCA4 disease progression and a proposed strategy for gene therapy

artículo científico publicado en 2008

ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina

artículo científico publicado en 2005

Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials

artículo científico publicado en 2019

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

artículo científico publicado en 2011

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

artículo científico publicado en 2009

Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations

artículo científico publicado en 2014

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

artículo científico publicado en 2007

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis

artículo científico publicado en 2003

Comparison of Short-Wavelength Reduced-Illuminance and Conventional Autofluorescence Imaging in Stargardt Macular Dystrophy

artículo científico publicado en 2016

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

artículo científico publicado en 2011

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

artículo científico publicado en 2003

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

artículo científico publicado en 2003

Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration

artículo científico publicado en 2011

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

artículo científico publicado en 2008

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

artículo científico publicado en 2012

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

artículo científico publicado en 2005

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

artículo científico

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

scientific article published on 17 December 2018

Five-Year Safety and Performance Results from the Argus II Retinal Prosthesis System Clinical Trial

artículo científico publicado en 2016

Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

artículo científico publicado en 2012

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model

artículo científico publicado en 2011

Human cone photoreceptor dependence on RPE65 isomerase

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis

artículo científico publicado en 2004

Improvement in vision: a new goal for treatment of hereditary retinal degenerations

artículo científico publicado en 2015

In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development

artículo científico publicado en 2006

In vivo micropathology of Best macular dystrophy with optical coherence tomography.

artículo científico publicado en 2003

Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations

scientific article published on 20 March 2014

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations

artículo científico publicado en 2007

Interim results from the international trial of Second Sight's visual prosthesis

artículo científico publicado en 2012

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

artículo científico publicado en 2007

Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness

artículo científico publicado en 2006

Long-Term Results from an Epiretinal Prosthesis to Restore Sight to the Blind

artículo científico publicado en 2015

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

artículo científico publicado en 2005

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate

scientific article published on April 2009

Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7.

artículo científico

Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials

artículo científico publicado en 2012

Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations

artículo científico publicado en 2007

Macular pigment and lutein supplementation in choroideremia

artículo científico publicado en 2002

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration

artículo científico publicado en 2003

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

artículo científico publicado en 2004

Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy

artículo científico publicado en 2014

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

scientific article published on 04 August 2013

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

artículo científico publicado en 2004

Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations

artículo científico

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.

artículo científico publicado en 2017

Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.

artículo científico publicado en 2016

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

artículo científico publicado en 2008

Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front

artículo científico publicado en 2015

Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations

artículo científico publicado en 2011

Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9).

artículo científico publicado en 2017

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations

artículo científico publicado en 2015

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

artículo científico publicado en 2007

RPGR-associated retinal degeneration in human X-linked RP and a murine model

artículo científico publicado en 2012

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

artículo científico publicado en 2007

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

article

Reply to Townes-Anderson: RPE65 gene therapy does not alter the natural history of retinal degeneration.

artículo científico publicado en 2013

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

artículo científico publicado en 2006

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

artículo científico publicado en 2008

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

artículo científico publicado en 2008

Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.

artículo científico publicado en 2000

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

artículo científico publicado en 2019

Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease

artículo científico publicado en 2015

TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones

artículo científico publicado en 2014

The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.

artículo científico publicado en 2016

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

artículo científico publicado en 2002

Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness

artículo científico publicado en 2017

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

artículo científico publicado en 2011

Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10

Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: ProgStar Report Number 6.

artículo científico publicado en 2017

Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2).

artículo científico publicado en 2016

Lista de obras de

ABCA4 disease progression and a proposed strategy for gene therapy

ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina

Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis

Comparison of Short-Wavelength Reduced-Illuminance and Conventional Autofluorescence Imaging in Stargardt Macular Dystrophy

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration

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

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Five-Year Safety and Performance Results from the Argus II Retinal Prosthesis System Clinical Trial

Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR

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

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model

Human cone photoreceptor dependence on RPE65 isomerase

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

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

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

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

Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis

Improvement in vision: a new goal for treatment of hereditary retinal degenerations

In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development

In vivo micropathology of Best macular dystrophy with optical coherence tomography.

Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations

Interim results from the international trial of Second Sight's visual prosthesis

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness

Long-Term Results from an Epiretinal Prosthesis to Restore Sight to the Blind

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

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate

Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7.

Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials

Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations

Macular pigment and lutein supplementation in choroideremia

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.

Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front

Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations

Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9).

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

RPGR-associated retinal degeneration in human X-linked RP and a murine model

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

Reply to Townes-Anderson: RPE65 gene therapy does not alter the natural history of retinal degeneration.

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.

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

Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease

TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones

The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10

Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: ProgStar Report Number 6.

Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2).