E. A. Windsor

发表

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

Krzysztof Palczewski, Jean Bennett, A. V. Cideciyan, 2004, Investigative ophthalmology & visual science.

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

T. Aleman, A. Cideciyan, S. Schwartz, 2005, Proceedings of the National Academy of Sciences of the United States of America.

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

Edwin M Stone, Terence R Flotte, Alexander Sumaroka, 2008, Proceedings of the National Academy of Sciences.

Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection.

A. J. Roman, W. Hauswirth, T. Aleman, 2006, Molecular therapy : the journal of the American Society of Gene Therapy.

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization

T. Aleman, A. Cideciyan, S. Schwartz, 2009, Molecular vision.

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

A. J. Roman, T. Aleman, A. Cideciyan, 2007, Investigative ophthalmology & visual science.

Human cone photoreceptor dependence on RPE65 isomerase

A. J. Roman, T. Aleman, A. Cideciyan, 2007, Proceedings of the National Academy of Sciences.

ABCA4 disease progression and a proposed strategy for gene therapy.

A. J. Roman, T. Aleman, A. Cideciyan, 2009, Human molecular genetics.

Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.

T. Aleman, A. Cideciyan, S. Schwartz, 2007, Investigative ophthalmology & visual science.

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

Alexander Sumaroka, A. J. Roman, W. Hauswirth, 2009, The New England journal of medicine.

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

A. J. Roman, V. Sheffield, T. Aleman, 2006, Investigative ophthalmology & visual science.

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

A. J. Roman, T. Aleman, A. Cideciyan, 2007, Investigative ophthalmology & visual science.

Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.

A. J. Roman, T. Aleman, A. Cideciyan, 2006, Investigative ophthalmology & visual science.

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

A. J. Roman, T. Aleman, S. Kaushal, 2008, Investigative ophthalmology & visual science.

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

A. J. Roman, T. Aleman, A. Cideciyan, 2005, Investigative ophthalmology & visual science.

Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures.

A. J. Roman, T. Aleman, A. Cideciyan, 2005, Experimental eye research.

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

A. J. Roman, T. Aleman, A. Cideciyan, 2009, Investigative ophthalmology & visual science.

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

T. Aleman, A. Cideciyan, S. Schwartz, 2007, Human mutation.

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

A. J. Roman, T. Aleman, A. Cideciyan, 2009, Investigative ophthalmology & visual science.

Normal central retinal function and structure preserved in retinitis pigmentosa.

A. J. Roman, T. Aleman, A. Cideciyan, 2010, Investigative ophthalmology & visual science.

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

T. Aleman, A. Cideciyan, S. Schwartz, 2008, Investigative ophthalmology & visual science.

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

Edwin M Stone, Alexander Sumaroka, A. J. Roman, 2009, Investigative ophthalmology & visual science.

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

A. J. Roman, W. Hauswirth, T. Aleman, 2009, Human gene therapy.

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

A. J. Roman, T. Aleman, A. Cideciyan, 2008, Investigative ophthalmology & visual science.

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

A. J. Roman, T. Aleman, A. Cideciyan, 2009, Investigative ophthalmology & visual science.

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

A. J. Roman, T. Aleman, A. Cideciyan, 2009, Investigative ophthalmology & visual science.