Search Results - "SCHWARTZ, Sharon"

Improvement and Decline in Vision with Gene Therapy in Childhood Blindness by Jacobson, Samuel G, Cideciyan, Artur V, Roman, Alejandro J, Sumaroka, Alexander, Schwartz, Sharon B, Heon, Elise, Hauswirth, William W

“…A long-term study, conducted over approximately 5.5 years, involving three patients treated with gene therapy for Leber's congenital amaurosis shows that…”
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Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement by Cideciyan, Artur V., Jacobson, Samuel G., Beltran, William A., Sumaroka, Alexander, Swider, Malgorzata, Iwabe, Simone, Roman, Alejandro J., Olivares, Melani B., Schwartz, Sharon B., Komáromy, András M., Hauswirth, William W., Aguirre, Gustavo D.

“…Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness…”
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Opening the Black Box: a motivation for the assessment of mediation by Hafeman, Danella M, Schwartz, Sharon

“…Recent criticism of epidemiologic methods has focused on the limitations of ‘black box’ epidemiology, a pejorative label given to the simple identification of…”
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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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Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials by Luo, Xunda, Cideciyan, Artur V, Iannaccone, Alessandro, Roman, Alejandro J, Ditta, Lauren C, Jennings, Barbara J, Yatsenko, Svetlana A, Sheplock, Rebecca, Sumaroka, Alexander, Swider, Malgorzata, Schwartz, Sharon B, Wissinger, Bernd, Kohl, Susanne, Jacobson, Samuel G

“…Blue Cone Monochromacy (BCM) is an X-linked retinopathy caused by mutations in the OPN1LW / OPN1MW gene cluster, encoding long (L)- and middle (M)-wavelength…”
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Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness by Zeitz, Christina, Jacobson, Samuel G., Hamel, Christian P., Bujakowska, Kinga, Neuillé, Marion, Orhan, Elise, Zanlonghi, Xavier, Lancelot, Marie-Elise, Michiels, Christelle, Schwartz, Sharon B., Bocquet, Béatrice, Antonio, Aline, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Luu, Tien D., Sennlaub, Florian, Nguyen, Hoan, Poch, Olivier, Dollfus, Hélène, Lecompte, Odile, Kohl, Susanne, Sahel, José-Alain, Bhattacharya, Shomi S., Audo, Isabelle

“…Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder. Two forms can be distinguished clinically:…”
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Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial by Hauswirth, William W, Aleman, Tomas S, Kaushal, Shalesh, Cideciyan, Artur V, Schwartz, Sharon B, Wang, Lili, Conlon, Thomas J, Boye, Sanford L, Flotte, Terence R, Byrne, Barry J, Jacobson, Samuel G

“…Leber congenital amaurosis (LCA) is a group of autosomal recessive blinding retinal diseases that are incurable. One molecular form is caused by mutations in…”
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Causal identification: a charge of epidemiology in danger of marginalization by Schwartz, Sharon, PhD, Gatto, Nicolle M., PhD, Campbell, Ulka B., PhD

“…Abstract The requirement for framing all causal questions as well-defined interventions is being promoted in the causal inference literature within…”
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Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy by Cideciyan, Artur V, Hufnagel, Robert B, Carroll, Joseph, Sumaroka, Alexander, Luo, Xunda, Schwartz, Sharon B, Dubra, Alfredo, Land, Megan, Michaelides, Michel, Gardner, Jessica C, Hardcastle, Alison J, Moore, Anthony T, Sisk, Robert A, Ahmed, Zubair M, Kohl, Susanne, Wissinger, Bernd, Jacobson, Samuel G

“…Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is a candidate disease for gene augmentation…”
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Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front by Cideciyan, Artur V, Swider, Malgorzata, Schwartz, Sharon B, Stone, Edwin M, Jacobson, Samuel G

“…To evaluate the progression of the earliest stage of disease in ABCA4-associated retinal degenerations (RDs). Near-infrared excited reduced-illuminance…”
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Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene by Jacobson, Samuel G, Cideciyan, Artur V, Sumaroka, Alexander, Roman, Alejandro J, Charng, Jason, Lu, Monica, Choi, Windy, Sheplock, Rebecca, Swider, Malgorzata, Kosyk, Mychajlo S, Schwartz, Sharon B, Stone, Edwin M, Fishman, Gerald A

“…To determine efficacy outcome measures for clinical trials of Leber congenital amaurosis (LCA) associated with a common intronic mutation in the CEP290 gene…”
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Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations by Zhang, Ning, Tsybovsky, Yaroslav, Kolesnikov, Alexander V, Rozanowska, Malgorzata, Swider, Malgorzata, Schwartz, Sharon B, Stone, Edwin M, Palczewska, Grazyna, Maeda, Akiko, Kefalov, Vladimir J, Jacobson, Samuel G, Cideciyan, Artur V, Palczewski, Krzysztof

“…Mutations in the ABCA4 gene are a common cause of autosomal recessive retinal degeneration. All mouse models to date are based on knockouts of Abca4, even…”
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A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews by Zelinger, Lina, Banin, Eyal, Obolensky, Alexey, Mizrahi-Meissonnier, Liliana, Beryozkin, Avigail, Bandah-Rozenfeld, Dikla, Frenkel, Shahar, Ben-Yosef, Tamar, Merin, Saul, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G., Sharon, Dror

“…Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 50 genes. Using homozygosity mapping in…”
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Creation and Implementation of a Preoperative Malignant Hyperthermia Screening Tool by Johnson, Tirzah, Simmons, Virginia C., Figer Schwartz, Sharon, Tola, Denise H.

“…Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disorder triggered by certain anesthetic agents. There is currently no standardized…”
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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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Adapting a Couple-Based Intimacy Enhancement Intervention to Breast Cancer: A Developmental Study by Reese, Jennifer Barsky, Porter, Laura S, Casale, Kristen E, Bantug, Elissa T, Bober, Sharon L, Schwartz, Sharon C, Smith, Katherine Clegg

“…Objective: Sexual concerns continue to be poorly addressed for women treated for breast cancer and evidence-based interventions that adequately address these…”
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Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy by Zelinger, Lina, Cideciyan, Artur V, Kohl, Susanne, Schwartz, Sharon B, Rosenmann, Ada, Eli, Dalia, Sumaroka, Alexander, Roman, Alejandro J, Luo, Xunda, Brown, Cassondra, Rosin, Boris, Blumenfeld, Anat, Wissinger, Bernd, Jacobson, Samuel G, Banin, Eyal, Sharon, Dror

“…Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that manifests cone dysfunction, reduced visual acuity and color vision, nystagmus,…”
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Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations by Jacobson, Samuel G, McGuigan, 3rd, David B, Sumaroka, Alexander, Roman, Alejandro J, Gruzensky, Michaela L, Sheplock, Rebecca, Palma, Judy, Schwartz, Sharon B, Aleman, Tomas S, Cideciyan, Artur V

“…Previously, patients with RHO mutations and a class A phenotype were found to have severe early-onset loss of rod function, whereas patients with a class B…”
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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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Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials by Cideciyan, Artur V, Swider, Malgorzata, Aleman, Tomas S, Feuer, Willam J, Schwartz, Sharon B, Russell, Robert C, Steinberg, Janet D, Stone, Edwin M, Jacobson, Samuel G

“…To measure macular visual function in patients with unstable fixation, to define the photoreceptor source of this function, and to estimate its test-retest…”
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