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 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

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

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

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

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

artículo científico publicado en 2015

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

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

artículo científico publicado en 2007

Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations

artículo científico publicado en 2007

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

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

artículo científico publicado en 2004

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

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

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

artículo científico publicado en 2007

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

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

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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 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

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

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

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

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

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

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

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations

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

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

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

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

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

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

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

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

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

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