共 50 条
- [1] Analysis of ABCA4 mutation spectrum in Stargardt/ABCA4 diseaseINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)论文数: 引用数: h-index:机构:Lee, Winston论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Ophthalmol, New York, NY USA Columbia Univ, Ophthalmol, New York, NY USACollison, Fred论文数: 0 引用数: 0 h-index: 0机构: Chicago Lighthouse, Pangere Ctr Hereditary Retinal Dis, Chicago, IL USA Columbia Univ, Ophthalmol, New York, NY USAFishman, Gerald A.论文数: 0 引用数: 0 h-index: 0机构: Chicago Lighthouse, Pangere Ctr Hereditary Retinal Dis, Chicago, IL USA Columbia Univ, Ophthalmol, New York, NY USATsang, Stephen论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Ophthalmol, New York, NY USA Columbia Univ, Pathol & Cell Biol, New York, NY USA Columbia Univ, Ophthalmol, New York, NY USAAllikmets, Rando论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Ophthalmol, New York, NY USA Columbia Univ, Pathol & Cell Biol, New York, NY USA Columbia Univ, Ophthalmol, New York, NY USA
- [2] Functional characterization of ABCA4 genetic variants related to Stargardt diseaseScientific Reports, 12Bo Min Kim论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans University,Department of Pharmacology, InflammationHyo Sook Song论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans University,Department of Pharmacology, InflammationJin-Young Kim论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans University,Department of Pharmacology, InflammationEun Young Kwon论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans University,Department of Pharmacology, InflammationSeung Yeon Ha论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans University,Department of Pharmacology, InflammationMinsuk Kim论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans University,Department of Pharmacology, InflammationJi Ha Choi论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans University,Department of Pharmacology, Inflammation
- [3] ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASERETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2018, 38 (02): : 403 - 415Klufas, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Stein Eye Inst, Los Angeles, CA USA Univ Calif Los Angeles, Stein Eye Inst, Los Angeles, CA USATsui, Irena论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Stein Eye Inst, Los Angeles, CA USA Univ Calif Los Angeles, Doheny Eye Inst, Los Angeles, CA USA Univ Calif Los Angeles, Stein Eye Inst, Los Angeles, CA USASadda, Srinivas R.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Doheny Eye Inst, Los Angeles, CA USA Univ Calif Los Angeles, Stein Eye Inst, Los Angeles, CA USAHosseini, Hamid论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Stein Eye Inst, Los Angeles, CA USA Univ Calif Los Angeles, Stein Eye Inst, Los Angeles, CA USASchwartz, Steven D.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Stein Eye Inst, Los Angeles, CA USA Univ Calif Los Angeles, Stein Eye Inst, Los Angeles, CA USA
- [4] Functional characterization of ABCA4 genetic variants related to Stargardt diseaseSCIENTIFIC REPORTS, 2022, 12 (01)Kim, Bo Min论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans Univ, Coll Med, Inflammat Canc Microenvironm Res Ctr, Dept Pharmacol, 25 Magokdong Ro 2-Gil, Seoul 07804, South Korea Ewha Womans Univ, Coll Med, Inflammat Canc Microenvironm Res Ctr, Dept Pharmacol, 25 Magokdong Ro 2-Gil, Seoul 07804, South KoreaSong, Hyo Sook论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans Univ, Coll Med, Inflammat Canc Microenvironm Res Ctr, Dept Pharmacol, 25 Magokdong Ro 2-Gil, Seoul 07804, South Korea Ewha Womans Univ, Coll Med, Inflammat Canc Microenvironm Res Ctr, Dept Pharmacol, 25 Magokdong Ro 2-Gil, Seoul 07804, South KoreaKim, Jin-Young论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans Univ, Coll Med, Inflammat Canc Microenvironm Res Ctr, Dept Pharmacol, 25 Magokdong Ro 2-Gil, Seoul 07804, South Korea Ewha Womans Univ, Coll Med, Inflammat Canc Microenvironm Res Ctr, Dept Pharmacol, 25 Magokdong Ro 2-Gil, Seoul 07804, South Korea论文数: 引用数: h-index:机构:Ha, Seung Yeon论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans Univ, Coll Med, Inflammat Canc Microenvironm Res Ctr, Dept Pharmacol, 25 Magokdong Ro 2-Gil, Seoul 07804, South Korea Ewha Womans Univ, Coll Med, Inflammat Canc Microenvironm Res Ctr, Dept Pharmacol, 25 Magokdong Ro 2-Gil, Seoul 07804, South Korea论文数: 引用数: h-index:机构:Choi, Ji Ha论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans Univ, Coll Med, Inflammat Canc Microenvironm Res Ctr, Dept Pharmacol, 25 Magokdong Ro 2-Gil, Seoul 07804, South Korea Ewha Womans Univ, Coll Med, Inflammat Canc Microenvironm Res Ctr, Dept Pharmacol, 25 Magokdong Ro 2-Gil, Seoul 07804, South Korea
- [5] An ABCA4 genomic deletion in patients with Stargardt DiseaseHUMAN MUTATION, 2003, 21 (06) : 636 - 644Yatsenko, AN论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAShroyer, NF论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALewis, RA论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALupski, JR论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
- [6] Rewriting ABCA4 RNA for the Treatment of Stargardt DiseaseMOLECULAR THERAPY, 2023, 31 (04) : 189 - 189Bell, Robert D.论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USASlomovic, Shimyn论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USADoi, Akiko论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAGray, Jesse论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USABurkhart, Kirk Benjamin论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAKrumbach, Rebekka论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USABachmann, John论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USABremer, Bennett论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAClemens, Adam论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USACormier, Tayla论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USADelaney, Conor论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAFong, Lai Mung论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USALiu, Xiaojin论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAMatapurkar, Savita论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAMeredith, Julia论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USANelson, Justin论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USANoma, Akiko论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAPavis, Anika论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAPeng, Lingtao论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAThresher, Jason论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAWu, Dennis论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAWager, Carrie论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USAEhlers, Michael论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USASubramanian, Romesh R.论文数: 0 引用数: 0 h-index: 0机构: Ascidian Therapeut, Boston, MA USA Ascidian Therapeut, Boston, MA USA
- [7] Analysis of the ABCA4 genomic locus in Stargardt diseaseHUMAN MOLECULAR GENETICS, 2014, 23 (25) : 6797 - 6806Zernant, Jana论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol, New York, NY 10027 USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USAXie, Yajing论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol, New York, NY 10027 USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USAAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: UAM IIS FJD, Univ Hosp Fdn Jimenez Diaz, Inst Invest Sanitaria, Dept Genet, Madrid, Spain ISCIII, Ctr Invest Biomed Red CIBER Enfermedades Raras, Madrid, Spain Columbia Univ, Dept Ophthalmol, New York, NY 10027 USARiveiro-Alvarez, Rosa论文数: 0 引用数: 0 h-index: 0机构: UAM IIS FJD, Univ Hosp Fdn Jimenez Diaz, Inst Invest Sanitaria, Dept Genet, Madrid, Spain ISCIII, Ctr Invest Biomed Red CIBER Enfermedades Raras, Madrid, Spain Columbia Univ, Dept Ophthalmol, New York, NY 10027 USALopez-Martinez, Miguel-Angel论文数: 0 引用数: 0 h-index: 0机构: UAM IIS FJD, Univ Hosp Fdn Jimenez Diaz, Inst Invest Sanitaria, Dept Genet, Madrid, Spain ISCIII, Ctr Invest Biomed Red CIBER Enfermedades Raras, Madrid, Spain Columbia Univ, Dept Ophthalmol, New York, NY 10027 USASimonelli, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Eye Clin, Multidisciplinary Dept Med Surg & Dent Sci, Naples, Italy Columbia Univ, Dept Ophthalmol, New York, NY 10027 USATesta, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Eye Clin, Multidisciplinary Dept Med Surg & Dent Sci, Naples, Italy Columbia Univ, Dept Ophthalmol, New York, NY 10027 USAGorin, Michael B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Jules Stein Eye Inst, Dept Ophthalmol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Jules Stein Eye Inst, Dept Human Genet, Los Angeles, CA 90024 USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USAStrom, Samuel P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Jules Stein Eye Inst, Dept Ophthalmol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Jules Stein Eye Inst, Dept Human Genet, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol, Los Angeles, CA 90095 USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USABertelsen, Mette论文数: 0 引用数: 0 h-index: 0机构: Glostrup Cty Hosp, Kennedy Ctr Eye Clin, Glostrup, Denmark Columbia Univ, Dept Ophthalmol, New York, NY 10027 USARosenberg, Thomas论文数: 0 引用数: 0 h-index: 0机构: Glostrup Cty Hosp, Kennedy Ctr Eye Clin, Glostrup, Denmark Columbia Univ, Dept Ophthalmol, New York, NY 10027 USABoone, Philip M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USAYuan, Bo论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USAAyyagari, Radha论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Ophthalmol, La Jolla, CA 92093 USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USANagy, Peter L.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USATsang, Stephen H.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol, New York, NY 10027 USA Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USAGouras, Peter论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol, New York, NY 10027 USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USACollison, Frederick T.论文数: 0 引用数: 0 h-index: 0机构: Chicago Lighthouse People Who Are Blind Visually, Pangere Ctr Hereditary Retinal Dis, Chicago, IL USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USALupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USAFishman, Gerald A.论文数: 0 引用数: 0 h-index: 0机构: Chicago Lighthouse People Who Are Blind Visually, Pangere Ctr Hereditary Retinal Dis, Chicago, IL USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USAAllikmets, Rando论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol, New York, NY 10027 USA Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA Columbia Univ, Dept Ophthalmol, New York, NY 10027 USA
- [8] Developing an AAV dual vector ABCA4 gene therapy treatment for Stargardt diseaseINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)McClements, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Ophthalmol, Oxford, England Univ Oxford, Nuffield Dept Ophthalmol, Oxford, EnglandSingh, Mandeep S.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Ophthalmol, Oxford, England Univ Oxford, Nuffield Dept Ophthalmol, Oxford, EnglandIssa, Peter Charbel论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Ophthalmol, Bonn, Germany Univ Oxford, Nuffield Dept Ophthalmol, Oxford, EnglandMacLaren, Robert E.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Ophthalmol, Oxford, England Moorfields Eye Hosp, London, England Univ Oxford, Nuffield Dept Ophthalmol, Oxford, England
- [9] Rescuing ABCA4 trafficking mutants as a treatment for Stargardt diseaseINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)Cebotaru, Liudmila论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USALopes-Pacheco, Miqueias论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USASabirzhanova, Inna论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USARapino, Daniele论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USAGrover, Rahul论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USAHanda, James T.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Ophthalmol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USAGuggino, William论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA
- [10] Spectrum of ABCA4 variants in Slovenian patients with Stargardt diseaseEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 368 - 369Sajovic, Jana论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, SloveniaMeglic, Andrej论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, SloveniaJarc-Vidmar, Martina论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, SloveniaHadalin, Vlasta论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, SloveniaCorradi, Zelia论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, SloveniaCremers, Frans P. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, SloveniaZernant, Jana论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol, New York, NY USA Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, SloveniaAllikmets, Rando论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol, New York, NY USA Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, Slovenia论文数: 引用数: h-index:机构:Maver, Ales论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, SloveniaVolk, Marija论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, SloveniaPeterlin, Borut论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, SloveniaHawlina, Marko论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, SloveniaFakin, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, Slovenia