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1. Full Text Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
by Russell, Stephen and Bennett, Jean and Wellman, Jennifer A and Chung, Daniel C and Yu, Zi-Fan and Tillman, Amy and Wittes, Janet and Pappas, Julie and Elci, Okan and McCague, Sarah and Cross, Dominique and Marshall, Kathleen A and Walshire, Jean and Kehoe, Taylor L and Reichert, Hannah and Davis, Maria and Raffini, Leslie and George, Lindsey A and Hudson, F Parker and Dingfield, Laura and Zhu, Xiaosong and Haller, Julia A and Sohn, Elliott H and Mahajan, Vinit B and Pfeifer, Wanda and Weckmann, Michelle and Johnson, Chris and Gewaily, Dina and Drack, Arlene and Stone, Edwin and Wachtel, Katie and Simonelli, Francesca and Leroy, Bart P and Wright, J Fraser and High, Katherine A and Maguire, Albert M
The Lancet (British edition), ISSN 0140-6736, 08/2017, Volume 390, Issue 10097, pp. 849 - 860
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Retinal degeneration | Care and treatment | Analysis | Studies | Congenital diseases | Clinical trials | Retina | Photoreceptors | Eye diseases | Dystrophy | Mutation | Gene therapy | Evidence-based medicine | Children & youth | Index Medicus | Abridged Index Medicus
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2. Full Text Sorsby fundus dystrophy – A review of pathology and disease mechanisms
by Christensen, David R.G and Brown, Ffion E and Cree, Angela J and Ratnayaka, J. Arjuna and Lotery, Andrew J
Experimental eye research, ISSN 0014-4835, 12/2017, Volume 165, pp. 35 - 46
Cell culture | Tissue inhibitor of matrix metalloproteinases-3 | Sorsby fundus dystrophy | Induced pluripotent stem cells | AMD | Disease modelling | Retinal pigment epithelium | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Macular Degeneration - etiology | Macular Degeneration - physiopathology | Humans | Cells, Cultured | Retinal Dystrophies - etiology | Tissue Inhibitor of Metalloproteinase-3 - physiology | Retinal Dystrophies - physiopathology | Retinal Dystrophies - epidemiology | Models, Biological | Macular Degeneration - epidemiology | Matrix Metalloproteinases - physiology | Neovascularization, Pathologic - physiopathology | Tissue Inhibitor of Metalloproteinase-3 - genetics | Macular degeneration | Medical research | Analysis | Stem cells | Blindness | Medicine, Experimental | Protein binding | Index Medicus
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3. Full Text Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy Results of Phase 1 and 3 Trials
by Maguire, Albert M and Russell, Stephen and Wellman, Jennifer A and Chung, Daniel C and Yu, Zi-Fan and Tillman, Amy and Wittes, Janet and Pappas, Julie and Elci, Okan and Marshall, Kathleen A and McCague, Sarah and Reichert, Hannah and Davis, Maria and Simonelli, Francesca and Leroy, Bart P and Wright, J. Fraser and High, Katherine A and Bennett, Jean
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 09/2019, Volume 126, Issue 9, pp. 1273 - 1285
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Dependovirus - genetics | Motor Activity - physiology | Visual Fields - physiology | Follow-Up Studies | Humans | Male | Young Adult | Retinal Dystrophies - therapy | Adult | Female | Child | Visual Acuity - physiology | Psychomotor Performance | Vision, Low - physiopathology | Sensory Thresholds | Treatment Outcome | Retinal Dystrophies - physiopathology | cis-trans-Isomerases - genetics | Vision, Ocular | Adolescent | Visual Field Tests | Mutation | Genetic Vectors | Retinal Dystrophies - genetics | Genetic Therapy - methods | Index Medicus
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4. Full Text Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1
by Fujinami, Kaoru and Yang, Lizhu and Joo, Kwangsic and Tsunoda, Kazushige and Kameya, Shuhei and Hanazono, Gen and Fujinami-Yokokawa, Yu and Arno, Gavin and Kondo, Mineo and Nakamura, Natsuko and Kurihara, Toshihide and Tsubota, Kazuo and Zou, Xuan and Li, Hui and Park, Kyu Hyung and Iwata, Takeshi and Miyake, Yozo and Woo, Se Joon and Sui, Ruifang and East Asia Inherited Retinal Disease Society study group
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2019, Volume 126, Issue 10, pp. 1432 - 1444
Macular Degeneration - physiopathology | Gene Frequency | Humans | Middle Aged | Retinal Dystrophies - pathology | Male | Visual Acuity | Retinal Dystrophies - physiopathology | Young Adult | Asian Continental Ancestry Group | Macular Degeneration - genetics | Adolescent | Aged, 80 and over | Adult | Female | Aged | Retrospective Studies | Eye Proteins - genetics | Child | Retina - pathology | Retinal Dystrophies - genetics | Macular Degeneration - pathology | Genetic research | Index Medicus
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5. Full Text Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies
by Schwartz, Steven D, Prof and Regillo, Carl D, Prof and Lam, Byron L, Prof and Eliott, Dean, MD and Rosenfeld, Philip J, Prof and Gregori, Ninel Z, MD and Hubschman, Jean-Pierre, MD and Davis, Janet L, Prof and Heilwell, Gad, MD and Spirn, Marc, MD and Maguire, Joseph, MD and Gay, Roger, PhD and Bateman, Jane, RN and Ostrick, Rosaleen M, MPH and Morris, Debra, MPH and Vincent, Matthew, PhD and Anglade, Eddy, MD and Del Priore, Lucian V, Prof and Lanza, Robert, Prof
The Lancet (British edition), ISSN 0140-6736, 2015, Volume 385, Issue 9967, pp. 509 - 516
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Retinal Pigment Epithelium - transplantation | Embryonic Stem Cells - cytology | Prospective Studies | Follow-Up Studies | Humans | Middle Aged | Male | Treatment Outcome | Visual Acuity | Young Adult | Macular Degeneration - therapy | Embryonic Stem Cells - transplantation | Aged, 80 and over | Quality of Life | Adult | Female | Aged | Cell Differentiation | Retinal Pigment Epithelium - cytology | Macular degeneration | Care and treatment | Transplantation | Embryonic stem cells | Stem cells | Retina | Transplants & implants | Index Medicus | Abridged Index Medicus
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6. Full Text Gene therapy for retinal dystrophy
by Sahel, José Alain and Dalkara, Deniz
Nature medicine, ISSN 1078-8956, 2019, Volume 25, Issue 2, pp. 198 - 199
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Complications and side effects | Usage | Care and treatment | Analysis | Blindness | Retinal degeneration | Genetic aspects | Children | Gene therapy | Health aspects | Risk factors | Oligonucleotides | Antisense RNA | Retina | Antisense oligonucleotides | Dystrophy | Ribonucleic acid--RNA | Genetic modification | Index Medicus
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7. Full Text In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases
by Cornelis, S.S and Bax, N.M and Zernant, J and Allikmets, R and Fritsche, L.G and Dunnen, J.T. den and Ajmal, M and Hoyng, C.B and Cremers, F.P.M
Human mutation, ISSN 1059-7794, 2017, Volume 38, Issue 4, pp. 400 - 408
retinal dystrophy | meta‐analysis | in silico prediction | genotype‐phenotype correlation | ABCA4 | mild variants | meta-analysis | genotype-phenotype correlation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Severity of Illness Index | Phenotype | ATP-Binding Cassette Transporters - genetics | Computer Simulation | Gene Frequency | Humans | Alleles | Retinal Dystrophies - pathology | Genotype | Mutation | Retinal Dystrophies - genetics | Retinal degeneration | Analysis | Eye diseases | Genetic disorders | Meta-analysis | Index Medicus
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8. Full Text Novel molecular mechanisms for Prph2‐associated pattern dystrophy
by Chakraborty, Dibyendu and Strayve, Daniel G and Makia, Mustafa S and Conley, Shannon M and Kakahel, Mashal and Al‐Ubaidi, Muayyad R and Naash, Muna I
The FASEB journal, ISSN 0892-6638, 01/2020, Volume 34, Issue 1, pp. 1211 - 1230
butterfly pattern dystrophy | extracellular loop | tetraspanin | retinitis pigmentosa | C213Y knockin | disulfide linkages | retinal degeneration slow (RDS) | Biochemistry & Molecular Biology | Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Index Medicus
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9. Full Text Vitelliform Macular Dystrophy
by Spaide, Richard F and Noble, Kenneth and Morgan, Alexander and Freund, K. Bailey
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2006, Volume 113, Issue 8, pp. 1392 - 1400.e4
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Biological and medical sciences | Miscellaneous | Medical sciences | Retinopathies | Macula Lutea | Retinal Diseases - diagnosis | Angiography | Tomography, Optical Coherence | Humans | Middle Aged | Fluorescence | Male | Retinal Diseases - classification | Photography | Adolescent | Adult | Female | Retrospective Studies | Retinal Diseases - physiopathology | Child | Fundus Oculi | Index Medicus
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