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Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
Author / Creator:Cideciyan, Artur V. ; Jacobson, Samuel G. ; Drack, Arlene V. ; Ho, Allen C. ; Charng, Jason ; Garafalo, Alexandra V. ; Roman, Alejandro J. ; Sumaroka, Alexander ; Han, Ian C. ; Hochstedler, Maria D. ; Pfeifer, Wanda L. ; Sohn, Elliott H. ; Taiel, Magali ; Schwartz, Michael R. ; Biasutto, Patricia ; Wit, Wilma de ; Cheetham, Michael E. ; Adamson, Peter ; Rodman, David M. ; Platenburg, Gerard ; Tome, Maria D. ; Balikova, Irina ; Nerinckx, Fanny ; Zaeytijd, Julie De ; Van Cauwenbergh, Caroline ; Leroy, Bart P. ; Russell, Stephen R.
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2019-02, Vol.25 (2), p.225-228
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Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome
Author / Creator:Datta, Poppy ; Allamargot, Chantal ; Hudson, Joseph S. ; Andersen, Emily K. ; Bhattarai, Sajag ; Drack, Arlene V. ; Sheffield, Val C. ; Seo, Seongjin
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2015-08, Vol.112 (32), p.E4400-E4409
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AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis
Author / Creator:Scruggs, Brittni A. ; Bhattarai, Sajag ; Helms, Megan ; Cherascu, Ioana ; Salesevic, Adisa ; Stalter, Elliot ; Laird, Joseph ; Baker, Sheila A. ; Drack, Arlene V.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2022-12, Vol.17 (12), p.e0276298-e0276298
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Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model
Author / Creator:Mayer, Sara K. ; Thomas, Jacintha ; Helms, Megan ; Kothapalli, Aishwarya ; Cherascu, Ioana ; Salesevic, Adisa ; Stalter, Elliot ; Wang, Kai ; Datta, Poppy ; Searby, Charles ; Seo, Seongjin ; Hsu, Ying ; Bhattarai, Sajag ; Sheffield, Val C. ; Drack, Arlene V.
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2022-09, Vol.15 (9)
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Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa
Author / Creator:Tucker, Budd A ; Mullins, Robert F ; Streb, Luan M ; Anfinson, Kristin ; Eyestone, Mari E ; Kaalberg, Emily ; Riker, Megan J ; Drack, Arlene V ; Braun, Terry A ; Stone, Edwin M
Publisher:England: eLife Sciences Publications Ltd
Journal title:eLife, 2013-08, Vol.2, p.e00824
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Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma
Author / Creator:Lachke, Salil A. ; Alkuraya, Fowzan S. ; Kneeland, Stephen C. ; Ohn, Takbum ; Aboukhalil, Anton ; Howell, Gareth R. ; Saadi, Irfan ; Cavallesco, Resy ; Yue, Yingzi ; Tsai, Anne C-H. ; Nair, K. Saidas ; Cosma, Mihai I. ; Smith, Richard S. ; Hodges, Emily ; AlFadhli, Suad M. ; Al-Hajeri, Amal ; Shamseldin, Hanan E. ; Behbehani, AbdulMutalib ; Hannon, Gregory J. ; Bulyk, Martha L. ; Drack, Arlene V. ; Anderson, Paul J. ; John, Simon W. M. ; Maas, Richard L.
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2011-03, Vol.331 (6024), p.1571-1576
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A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes
Author / Creator:Swier, Vicki J. ; White, Katherine A. ; Johnson, Tyler B. ; Wang, Xiaojun ; Han, Jimin ; Pearce, David A. ; Singh, Ruchira ; Drack, Arlene V. ; Pfeifer, Wanda ; Rogers, Christopher S. ; Brudvig, Jon J. ; Weimer, Jill M.
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2023-08, Vol.16 (8)
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RNA Interference-Based Therapy for Spinocerebellar Ataxia Type 7 Retinal Degeneration
Author / Creator:Ramachandran, Pavitra S. ; Bhattarai, Sajag ; Singh, Pratibha ; Boudreau, Ryan L. ; Thompson, Stewart ; LaSpada, Albert R. ; Drack, Arlene V. ; Davidson, Beverly L.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-04, Vol.9 (4), p.e95362-e95362
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Nanophthalmos patient with a THR518MET mutation in MYRF, a case report
Author / Creator:Hagedorn, Joshua ; Avdic, Armin ; Schnieders, Michael J. ; Roos, Benjamin R. ; Kwon, Young H. ; Drack, Arlene V. ; Boese, Erin A. ; Fingert, John H.
Publisher:England: BioMed Central Ltd
Journal title:BMC ophthalmology, 2020-10, Vol.20 (1), p.388-388, Article 388
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Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice
Author / Creator:Chamling, Xitiz ; Seo, Seongjin ; Bugge, Kevin ; Searby, Charles ; Guo, Deng F. ; Drack, Arlene V. ; Rahmouni, Kamal ; Sheffield, Val C.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-03, Vol.8 (3), p.e59101-e59101
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TRIP8b Is Required for Maximal Expression of HCN1 in the Mouse Retina
Author / Creator:Pan, Yuan ; Bhattarai, Sajag ; Modestou, Modestos ; Drack, Arlene V. ; Chetkovich, Dane M. ; Baker, Sheila A.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-01, Vol.9 (1), p.e85850-e85850
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Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
Author / Creator:Bech-Hansen, N.Torben ; Naylor, Margaret J. ; Maybaum, Tracy A. ; Sparkes, Rebecca L. ; Koop, Ben ; Birch, David G. ; Bergen, Arthur A.B. ; Prinsen, Clemens F.M. ; Polomeno, Robert C. ; Gal, Andreas ; Drack, Arlene V. ; Musarella, Maria A. ; Jacobson, Samuel G. ; Young, Rockefeller S.L. ; Weleber, Richard G.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-11, Vol.26 (3), p.319-323
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Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
Author / Creator:Russell, Stephen R. ; Drack, Arlene V. ; Cideciyan, Artur V. ; Jacobson, Samuel G. ; Leroy, Bart P. ; Van Cauwenbergh, Caroline ; Ho, Allen C. ; Dumitrescu, Alina V. ; Han, Ian C. ; Martin, Mitchell ; Pfeifer, Wanda L. ; Sohn, Elliott H. ; Walshire, Jean ; Garafalo, Alexandra V. ; Krishnan, Arun K. ; Powers, Christian A. ; Sumaroka, Alexander ; Roman, Alejandro J. ; Vanhonsebrouck, Eva ; Jones, Eltanara ; Nerinckx, Fanny ; De Zaeytijd, Julie ; Collin, Rob W. J. ; Hoyng, Carel ; Adamson, Peter ; Cheetham, Michael E. ; Schwartz, Michael R. ; den Hollander, Wilhelmina ; Asmus, Friedrich ; Platenburg, Gerard ; Rodman, David ; Girach, Aniz
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2022-05, Vol.28 (5), p.1014-1021
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ArticlesPeer ReviewedFull Text
AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis
Author / Creator:Brittni A. Scruggs ; Sajag Bhattarai ; Megan Helms ; Ioana Cherascu ; Adisa Salesevic ; Elliot Stalter ; Joseph Laird ; Sheila A. Baker ; Arlene V. Drack
Publisher:Public Library of Science (PLoS)
Journal title:PloS one, 2022-12, Vol.17 (12)
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Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations
Author / Creator:Dangremond, Tucker ; Wang, Kai ; Helms, Megan ; Bhattarai, Sajag ; Pfeifer, Wanda ; Drack, Arlene V.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Documenta ophthalmologica, 2021-12, Vol.143 (3), p.283-295
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Electroretinogram abnormalities in FKRP-related limb–girdle muscular dystrophy (LGMDR9)
Author / Creator:Hagedorn, Joshua L. ; Dunn, Taylor M. ; Bhattarai, Sajag ; Stephan, Carrie ; Mathews, Katherine D. ; Pfeifer, Wanda ; Drack, Arlene V.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Documenta ophthalmologica, 2023-02, Vol.146 (1), p.7-16
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Correlation between electroretinography, foveal anatomy and visual acuity in albinism
Author / Creator:Hu, Zhaohui ; Wang, Kai ; Bertsch, Morgan ; Dunn, Taylor ; Kehoe, Taylor ; Kemerley, Andrew D. ; Helms, Megan ; Bhattarai, Sajag ; Pfeifer, Wanda ; Scheetz, Todd E. ; Drack, Arlene V.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Documenta ophthalmologica, 2019-08, Vol.139 (1), p.21-32
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A visually guided swim assay for mouse models of human retinal disease recapitulates the multi-luminance mobility test in humans
Author / Creator:Hassan, Salma ; Hsu, Ying ; Mayer, Sara K. ; Thomas, Jacintha ; Kothapalli, Aishwarya ; Helms, Megan ; Baker, Sheila A. ; Laird, Joseph G. ; Bhattarai, Sajag ; Drack, Arlene V.
Publisher:India: Wolters Kluwer - Medknow
Journal title:Saudi journal of ophthalmology, 2023-10, Vol.37 (4), p.313-320
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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Author / Creator:Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen ; IJlst, Lodewijk ; Mooijer, Petra M. ; Ruiter, Jos P. N. ; van Lint, Alida E. M. ; Pras-Raves, Mia ; Wever, Eric ; Millan, Francisca ; Guillen Sacoto, Maria J. ; Begtrup, Amber ; Tarnopolsky, Mark ; Brady, Lauren ; Ladda, Roger L. ; Sell, Susan L. ; Nowak, Catherine B. ; Douglas, Jessica ; Tian, Cuixia ; Ulm, Elizabeth ; Perlman, Seth ; Drack, Arlene V. ; Chong, Karen ; Martin, Nicole ; Brault, Jennifer ; Brokamp, Elly ; Toro, Camilo ; Gahl, William A. ; Macnamara, Ellen F. ; Wolfe, Lynne ; Waisfisz, Quinten ; Zwijnenburg, Petra J. G. ; Ziegler, Alban ; Barth, Magalie ; Smith, Rosemarie ; Ellingwood, Sara ; Gaebler-Spira, Deborah ; Bakhtiari, Somayeh ; Kruer, Michael C. ; van Kampen, Antoine H. C. ; Wanders, Ronald J. A. ; Waterham, Hans R. ; Cassiman, David ; Vaz, Frédéric M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-12, Vol.23 (12), p.2467-2467
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Preventing Blindness in Premature Infants
Author / Creator:Drack, Arlene V
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 1998-05, Vol.338 (22), p.1620-1621
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Showing 1 to 20 of 27 results

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

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Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome

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AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis

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Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model

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Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

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Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma

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A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes

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RNA Interference-Based Therapy for Spinocerebellar Ataxia Type 7 Retinal Degeneration

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Nanophthalmos patient with a THR518MET mutation in MYRF, a case report

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Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice

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TRIP8b Is Required for Maximal Expression of HCN1 in the Mouse Retina

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Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

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Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial

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AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis

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Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations

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Electroretinogram abnormalities in FKRP-related limb–girdle muscular dystrophy (LGMDR9)

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Correlation between electroretinography, foveal anatomy and visual acuity in albinism

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A visually guided swim assay for mouse models of human retinal disease recapitulates the multi-luminance mobility test in humans

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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

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Preventing Blindness in Premature Infants

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