Search Results - "WINDSOR, A. M"

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics by Cideciyan, Artur V, Aleman, Tomas S, Boye, Sanford L, Schwartz, Sharon B, Kaushal, Shalesh, Roman, Alejandro J, Pang, Ji-jing, Sumaroka, Alexander, Windsor, Elizabeth A.M, Wilson, James M, Flotte, Terence R, Fishman, Gerald A, Heon, Elise, Stone, Edwin M, Byrne, Barry J, Jacobson, Samuel G, Hauswirth, William W

“…The RPE65 gene encodes the isomerase of the retinoid cycle, the enzymatic pathway that underlies mammalian vision. Mutations in RPE65 disrupt the retinoid…”
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ABCA4 disease progression and a proposed strategy for gene therapy by Cideciyan, Artur V., Swider, Malgorzata, Aleman, Tomas S., Tsybovsky, Yaroslav, Schwartz, Sharon B., Windsor, Elizabeth A.M., Roman, Alejandro J., Sumaroka, Alexander, Steinberg, Janet D., Jacobson, Samuel G., Stone, Edwin M., Palczewski, Krzysztof

“…Autosomal recessive retinal diseases caused by mutations in the ABCA4 gene are being considered for gene replacement therapy. All individuals with…”
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Normal Central Retinal Function and Structure Preserved in Retinitis Pigmentosa by Jacobson, Samuel G, Roman, Alejandro J, Aleman, Tomas S, Sumaroka, Alexander, Herrera, Waldo, Windsor, Elizabeth A. M, Atkinson, Lori A, Schwartz, Sharon B, Steinberg, Janet D, Cideciyan, Artur V

“…To determine whether normal function and structure, as recently found in forms of Usher syndrome, also occur in a population of patients with nonsyndromic…”
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Identifying Photoreceptors in Blind Eyes Caused by RPE65 Mutations: Prerequisite for Human Gene Therapy Success by Jacobson, Samuel G., Aleman, Tomas S., Cideciyan, Artur V., Sumaroka, Alexander, Schwartz, Sharon B., Elizabeth A. M. Windsor, Traboulsi, Elias I., Heon, Elise, Pittler, Steven J., Milam, Ann H., Maguire, Albert M., Palczewski, Krzysztof, Stone, Edwin M., Bennett, Jean, Nathans, Jeremy

“…Mutations in RPE65, a gene essential to normal operation of the visual (retinoid) cycle, cause the childhood blindness known as Leber congenital amaurosis…”
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Human cone photoreceptor dependence on RPE65 isomerase by Jacobson, Samuel G, Aleman, Tomas S, Cideciyan, Artur V, Heon, Elise, Golczak, Marcin, Beltran, William A, Sumaroka, Alexander, Schwartz, Sharon B, Roman, Alejandro J, Windsor, Elizabeth A.M, Wilson, James M, Aguirre, Gustavo D, Stone, Edwin M, Palczewski, Krzysztof

“…The visual (retinoid) cycle, the enzymatic pathway that regenerates chromophore after light absorption, is located primarily in the retinal pigment epithelium…”
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Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year by Cideciyan, Artur V, Hauswirth, William W, Aleman, Tomas S, Kaushal, Shalesh, Schwartz, Sharon B, Boye, Sanford L, Windsor, Elizabeth A M, Conlon, Thomas J, Sumaroka, Alexander, Pang, Ji-Jing, Roman, Alejandro J, Byrne, Barry J, Jacobson, Samuel G

“…Human gene therapy with rAAV2-vector was performed for the RPE65 form of childhood blindness called Leber congenital amaurosis. In three contemporaneous…”
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Defining the Residual Vision in Leber Congenital Amaurosis Caused by RPE65 Mutations by Jacobson, Samuel G, Aleman, Tomas S, Cideciyan, Artur V, Roman, Alejandro J, Sumaroka, Alexander, Windsor, Elizabeth A. M, Schwartz, Sharon B, Heon, Elise, Stone, Edwin M

“…To quantify the residual vision in Leber congenital amaurosis (LCA) caused by RPE65 mutations. Patients with RPE65-LCA (n = 30; ages, 4-55) were studied using…”
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Vision 1 Year after Gene Therapy for Leber's Congenital Amaurosis by Windsor, Elizabeth A.M, Byrne, Barry J, Sumaroka, Alexander, Jacobson, Samuel G, Hauswirth, William W, Cideciyan, Artur V, Kaushal, Shalesh, Aleman, Tomas S, Schwartz, Sharon B, Boye, Sanford L, Conlon, Thomas J, Roman, Alejandro J

“…To the Editor: Leber's congenital amaurosis, a common cause of blindness in infants and children, 1 recently became the first human genetic retinal disease to…”
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Retinal Laminar Architecture in Human Retinitis Pigmentosa Caused by Rhodopsin Gene Mutations by Aleman, Tomas S, Cideciyan, Artur V, Sumaroka, Alexander, Windsor, Elizabeth A. M, Herrera, Waldo, White, D. Alan, Kaushal, Shalesh, Naidu, Anjani, Roman, Alejandro J, Schwartz, Sharon B, Stone, Edwin M, Jacobson, Samuel G

“…To determine the underlying retinal micropathology in subclasses of autosomal dominant retinitis pigmentosa (ADRP) caused by rhodopsin (RHO) mutations…”
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Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations by Jacobson, Samuel G, Cideciyan, Artur V, Sumaroka, Alexander, Aleman, Tomas S, Schwartz, Sharon B, Windsor, Elizabeth A. M, Roman, Alejandro J, Stone, Edwin M, MacDonald, Ian M

“…To characterize in detail the disease expression in choroideremia (CHM), a blinding X-linked disease of the retina caused by loss-of-function mutations in Rab…”
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Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused by RPE65 Mutations by Jacobson, Samuel G, Cideciyan, Artur V, Aleman, Tomas S, Sumaroka, Alexander, Windsor, Elizabeth A. M, Schwartz, Sharon B, Heon, Elise, Stone, Edwin M

“…To study the topography of photoreceptor loss early in the course of Leber congenital amaurosis (LCA) caused by RPE65 mutations. Young patients with RPE65-LCA…”
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Disease Boundaries in the Retina of Patients with Usher Syndrome Caused by MYO7A Gene Mutations by Jacobson, Samuel G, Aleman, Tomas S, Sumaroka, Alexander, Cideciyan, Artur V, Roman, Alejandro J, Windsor, Elizabeth A. M, Schwartz, Sharon B, Rehm, Heidi L, Kimberling, William J

“…To study retinal microstructure in Usher Syndrome type 1B (USH1B) caused by MYO7A mutations as a prelude to treatment initiatives. Patients with MYO7A-USH1B…”
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Inner Retinal Abnormalities in X-linked Retinitis Pigmentosa with RPGR Mutations by Aleman, Tomas S, Cideciyan, Artur V, Sumaroka, Alexander, Schwartz, Sharon B, Roman, Alejandro J, Windsor, Elizabeth A. M, Steinberg, Janet D, Branham, Kari, Othman, Mohammad, Swaroop, Anand, Jacobson, Samuel G

“…To investigate in vivo the retinal microstructure in X-linked retinitis pigmentosa (XLRP) caused by RPGR mutations as a prelude to treatment initiatives for…”
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CERKL Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy by Aleman, Tomas S, Soumittra, Nagasamy, Cideciyan, Artur V, Sumaroka, Alexander M, Ramprasad, Vedam Lakshmi, Herrera, Waldo, Windsor, Elizabeth A. M, Schwartz, Sharon B, Russell, Robert C, Roman, Alejandro J, Inglehearn, Chris F, Kumaramanickavel, Govindasamy, Stone, Edwin M, Fishman, Gerald A, Jacobson, Samuel G

“…To define the phenotype of the retinal degeneration associated with mutations in the CERKL gene. Six patients (ages, 26-54 years) from three unrelated families…”
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Embedding Graduate Attributes at the Inception of a Chemistry Major in a Bachelor of Science by Windsor, Sarah A.M, Rutter, Kerry, McKay, David B, Meyers, Noel

“…Future employers increasingly require work-ready graduates. Higher education institutions throughout the world have responded through reforming the curriculum…”
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Retinal Disease in Usher Syndrome III Caused by Mutations in the Clarin-1 Gene by Herrera, Waldo, Aleman, Tomas S, Cideciyan, Artur V, Roman, Alejandro J, Banin, Eyal, Ben-Yosef, Tamar, Gardner, Leigh M, Sumaroka, Alexander, Windsor, Elizabeth A. M, Schwartz, Sharon B, Stone, Edwin M, Liu, Xue-Zhong, Kimberling, William J, Jacobson, Samuel G

“…To determine the retinal phenotype of Usher syndrome type III (USH3A) caused by clarin-1 (CLRN1) gene mutations in a non-Finnish population. Patients with…”
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Retinal Disease Expression in Bardet-Biedl Syndrome-1 (BBS1) Is a Spectrum from Maculopathy to Retina-Wide Degeneration by Azari, Amir A, Aleman, Tomas S, Cideciyan, Artur V, Schwartz, Sharon B, Windsor, Elizabeth A. M, Sumaroka, Alexander, Cheung, Andy Y, Steinberg, Janet D, Roman, Alejandro J, Stone, Edwin M, Sheffield, Val C, Jacobson, Samuel G

“…To define the retinal phenotype in patients with the Bardet-Biedl syndrome and mutations in the BBS1 gene. Ten patients (age range, 16-48 years), representing…”
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RDH12 and RPE65, Visual Cycle Genes Causing Leber Congenital Amaurosis, Differ in Disease Expression by Jacobson, Samuel G, Cideciyan, Artur V, Aleman, Tomas S, Sumaroka, Alexander, Schwartz, Sharon B, Windsor, Elizabeth A. M, Roman, Alejandro J, Heon, Elise, Stone, Edwin M, Thompson, Debra A

“…Human blindness caused by mutation of visual cycle genes has been discussed as potentially treatable by retinoid replacement either through gene transfer or…”
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Macular Pigment and Lutein Supplementation in ABCA4-Associated Retinal Degenerations by Aleman, Tomas S, Cideciyan, Artur V, Windsor, Elizabeth A. M, Schwartz, Sharon B, Swider, Malgorzata, Chico, John D, Sumaroka, Alexander, Pantelyat, Alexander Y, Duncan, Keith G, Gardner, Leigh M, Emmons, Jessica M, Steinberg, Janet D, Stone, Edwin M, Jacobson, Samuel G

“…To determine macular pigment (MP) optical density (OD) in patients with ABCA4-associated retinal degenerations (ABCA4-RD) and the response of MP and vision to…”
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Impairment of the Transient Pupillary Light Reflex in Rpe65-/- Mice and Humans with Leber Congenital Amaurosis by Aleman, Tomas S, Jacobson, Samuel G, Chico, John D, Scott, Michele L, Cheung, Andy Y, Windsor, Elizabeth A. M, Furushima, Masatoshi, Redmond, T. Michael, Bennett, Jean, Palczewski, Krzysztof, Cideciyan, Artur V

“…To determine the impairment of the transient pupillary light reflex (TPLR) due to severe retinal dysfunction and degeneration in a murine model of Leber…”
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