Works by Cideciyan, Artur V.

Results: 59
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    Lifespan and mitochondrial control of neurodegeneration.

    Published in:
    Nature Genetics, 2004, v. 36, n. 11, p. 1153, doi. 10.1038/ng1448
    By:
    • Wright, Alan F.;
    • Jacobson, Samuel G.;
    • Cideciyan, Artur V.;
    • Roman, Alejandro J;
    • Shu, Xinhua;
    • Vlachantoni, Dafni;
    • McInnes, Roderick R.;
    • Riemersma, Rudolph A.
    Publication type:
    Article
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    Gene therapy restores vision in a canine model of childhood blindness.

    Published in:
    Nature Genetics, 2001, v. 28, n. 1, p. 92, doi. 10.1038/88327
    By:
    • Acland, Gregory M.;
    • Aguirre, Gustavo D.;
    • Ray, Jharna;
    • Zhang, Qi;
    • Aleman, Tomas S.;
    • Cideciyan, Artur V.;
    • Pearce-Kelling, Susan E.;
    • Anand, Vibha;
    • Zeng, Yong;
    • Maguire, Albert M.;
    • Jacobson, Samuel G.;
    • Hauswirth, William W.;
    • Bennett, Jean
    Publication type:
    Article
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    Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

    Published in:
    Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9285
    By:
    • Wright, Alan F.;
    • Reddick, Adam C.;
    • Schwartz, Sharon B.;
    • Ferguson, Julie S.;
    • Aleman, Tomas S.;
    • Kellner, Ulrich;
    • Jurklies, Bernhard;
    • Schuster, Andreas;
    • Zrenner, Eberhart;
    • Wissinger, Bernd;
    • Lennon, Alan;
    • Shu, Xinhua;
    • Cideciyan, Artur V.;
    • Stone, Edwin M.;
    • Jacobson, Samuel G.;
    • Swaroop, Anand
    Publication type:
    Article
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    Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10639, doi. 10.3390/ijms251910639
    By:
    • Cideciyan, Artur V.;
    • Roman, Alejandro J.;
    • Warner, Raymond L.;
    • Sumaroka, Alexander;
    • Wu, Vivian;
    • Jiang, Yu Y.;
    • Swider, Malgorzata;
    • Garafalo, Alexandra V.;
    • Viarbitskaya, Iryna;
    • Russell, Robert C.;
    • Kohl, Susanne;
    • Wissinger, Bernd;
    • Ripamonti, Caterina;
    • Barbur, John L.;
    • Bach, Michael;
    • Carroll, Joseph;
    • Morgan, Jessica I. W.;
    • Aleman, Tomas S.
    Publication type:
    Article
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    ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 7, p. 812, doi. 10.1038/ejhg.2008.23
    By:
    • Kitiratschky, Veronique B. D.;
    • Grau, Tanja;
    • Bernd, Antje;
    • Zrenner, Eberhart;
    • Jägle, Herbert;
    • Renner, Agnes B.;
    • Kellner, Ulrich;
    • Rudolph, Günther;
    • Jacobson, Samuel G.;
    • Cideciyan, Artur V.;
    • Schaich, Simone;
    • Kohl, Susanne;
    • Wissinger, Bernd
    Publication type:
    Article
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    Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11.

    Published in:
    JAMA Ophthalmology, 2019, v. 137, n. 10, p. 1134, doi. 10.1001/jamaophthalmol.2019.2885
    By:
    • Strauss, Rupert W.;
    • Kong, Xiangrong;
    • Ho, Alexander;
    • Jha, Anamika;
    • West, Sheila;
    • Ip, Michael;
    • Bernstein, Paul S.;
    • Birch, David G.;
    • Cideciyan, Artur V.;
    • Michaelides, Michel;
    • Sahel, José-Alain;
    • Sunness, Janet S.;
    • Traboulsi, Elias I.;
    • Zrenner, Eberhart;
    • Pitetta, Sean;
    • Jenkins, Dennis;
    • Hariri, Amir Hossein;
    • Sadda, SriniVas;
    • Scholl, Hendrik P. N.
    Publication type:
    Article
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    Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11.

    Published in:
    2019
    By:
    • Strauss, Rupert W;
    • Kong, Xiangrong;
    • Ho, Alexander;
    • Jha, Anamika;
    • West, Sheila;
    • Ip, Michael;
    • Bernstein, Paul S;
    • Birch, David G;
    • Cideciyan, Artur V;
    • Michaelides, Michel;
    • Sahel, José-Alain;
    • Sunness, Janet S;
    • Traboulsi, Elias I;
    • Zrenner, Eberhart;
    • Pitetta, Sean;
    • Jenkins, Dennis;
    • Hariri, Amir Hossein;
    • Sadda, SriniVas;
    • Scholl, Hendrik P N;
    • ProgStar Study Group
    Publication type:
    journal article
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    Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7.

    Published in:
    2017
    By:
    • Schönbach, Etienne M.;
    • Wolfson, Yulia;
    • Strauss, Rupert W.;
    • Ibrahim, Mohamed A.;
    • Xiangrong Kong;
    • Muñoz, Beatriz;
    • Birch, David G.;
    • Cideciyan, Artur V.;
    • Hahn, Gesa-Astrid;
    • Nittala, Muneeswar;
    • Sunness, Janet S.;
    • Sadda, SriniVas R.;
    • West, Sheila K.;
    • Scholl, Hendrik P. N.;
    • Kong, Xiangrong;
    • ProgStar Study Group
    Publication type:
    journal article
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    REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 12, p. 2218, doi. 10.1093/hmg/ddx111
    By:
    • Veleri, Shobi;
    • Nellissery, Jacob;
    • Mishra, Bibhudatta;
    • Manjunath, Souparnika H.;
    • Brooks, Matthew J.;
    • Lijin Dong;
    • Kunio Nagashima;
    • Haohua Qian;
    • Chun Gao;
    • Sergeev, Yuri V.;
    • Xiu-Feng Huang;
    • Jia Qu;
    • Fan Lu;
    • Cideciyan, Artur V.;
    • Tiansen Li;
    • Zi-Bing Jin;
    • Fariss, Robert N.;
    • Ratnapriya, Rinki;
    • Jacobson, Samuel G.;
    • Swaroop, Anand
    Publication type:
    Article
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    Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 19, p. 4211, doi. 10.1093/hmg/ddw254
    By:
    • Downs, Louise M.;
    • Scott, Erin M.;
    • Cideciyan, Artur V.;
    • Iwabe, Simone;
    • Dufour, Valerie;
    • Gardiner, Kristin L.;
    • Genini, Sem;
    • Marinho, Luis Felipe;
    • Sumaroka, Alexander;
    • Kosyk, Mychajlo S.;
    • Swider, Malgorzata;
    • Aguirre, Geoffrey K.;
    • Jacobson, Samuel G.;
    • Beltran, William A.;
    • Aguirre, Gustavo D.
    Publication type:
    Article
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    Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 11, p. 3220, doi. 10.1093/hmg/ddv073
    By:
    • Ning Zhang;
    • 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
    Publication type:
    Article
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    Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 25, p. 5136, doi. 10.1093/hmg/ddt367
    By:
    • Braun, Terry A.;
    • Mullins, Robert F.;
    • Wagner, Alex H.;
    • Andorf, Jeaneen L.;
    • Johnston, Rebecca M.;
    • Bakall, Benjamin B.;
    • Deluca, Adam P.;
    • Fishman, Gerald A.;
    • Lam, Byron L.;
    • Weleber, Richard G.;
    • Cideciyan, Artur V.;
    • Jacobson, Samuel G.;
    • Sheffield, Val C.;
    • Tucker, Budd A.;
    • Stone, Edwin M.
    Publication type:
    Article
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    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.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 1, p. 168, doi. 10.1093/hmg/dds421
    By:
    • Jacobson, Samuel G.;
    • Cideciyan, Artur V.;
    • Peshenko, Igor V.;
    • Sumaroka, Alexander;
    • Olshevskaya, Elena V.;
    • Cao, Lihui;
    • Schwartz, Sharon B.;
    • Roman, Alejandro J.;
    • Olivares, Melani B.;
    • Sadigh, Sam;
    • Yau, King-Wai;
    • Heon, Elise;
    • Stone, Edwin M.;
    • Dizhoor, Alexander M.
    Publication type:
    Article
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    ABCA4 disease progression and a proposed strategy for gene therapy.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 5, p. 931, doi. 10.1093/hmg/ddn421
    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
    Publication type:
    Article
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    Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

    Published in:
    Human Molecular Genetics, 2008, v. 17, n. 15, p. 2405, doi. 10.1093/hmg/ddn140
    By:
    • Jacobson, Samuel G.;
    • Cideciyan, Artur V.;
    • Aleman, Tomas S.;
    • Sumaroka, Alexander;
    • Roman, Alejandro J.;
    • Gardner, Leigh M.;
    • Prosser, Haydn M.;
    • Mishra, Monalisa;
    • Bech-Hansen, N. Torben;
    • Herrera, Waldo;
    • Schwartz, Sharon B.;
    • Liu, Xue-Zhong;
    • Kimberling, William J.;
    • Steel, Karen P.;
    • Williams, David S.
    Publication type:
    Article
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    Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials.

    Published in:
    PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0125700
    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.
    Publication type:
    Article
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    Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to <i>CEP290</i> Mutation: Determining the Timing and Expectation of Therapy.

    Published in:
    PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092928
    By:
    • Boye, Shannon E.;
    • Huang, Wei-Chieh;
    • Roman, Alejandro J.;
    • Sumaroka, Alexander;
    • Boye, Sanford L.;
    • Ryals, Renee C.;
    • Olivares, Melani B.;
    • Ruan, Qing;
    • Tucker, Budd A.;
    • Stone, Edwin M.;
    • Swaroop, Anand;
    • Cideciyan, Artur V.;
    • Hauswirth, William W.;
    • Jacobson, Samuel G.
    Publication type:
    Article
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    SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.

    Published in:
    Ophthalmic Genetics, 2016, v. 37, n. 3, p. 333, doi. 10.3109/13816810.2015.1130154
    By:
    • Matsui, Rodrigo;
    • McGuigan III, David B.;
    • Gruzensky, Michaela L.;
    • Aleman, Tomas S.;
    • Schwartz, Sharon B.;
    • Sumaroka, Alexander;
    • Koenekoop, Robert K.;
    • Cideciyan, Artur V.;
    • Jacobson, Samuel G.
    Publication type:
    Article
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    Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.

    Published in:
    Human Molecular Genetics, 2003, v. 12, n. 20, p. 2657, doi. 10.1093/hmg/ddg289
    By:
    • Hayward, Caroline;
    • Shu, Xinhua;
    • Cideciyan, Artur V.;
    • Lennon, Alan;
    • Barran, Perdita;
    • Zareparsi, Sepideh;
    • Sawyer, Lindsay;
    • Hendry, Grace;
    • Dhillon, Baljean;
    • Milam, Ann H.;
    • Luthert, Philip J.;
    • Swaroop, Anand;
    • Hastie, Nicholas D.;
    • Jacobson, Samuel G.;
    • Wright, Alan F.
    Publication type:
    Article
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