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Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 7, pp. 757 - 765
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2018, Volume 13, Issue 12, pp. e0205380 - e0205380
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2015, Volume 10, Issue 12, pp. e0143846 - e0143846
Restoring vision in inherited retinal degenerations remains an unmet medical need. In mice exhibiting a genetically engineered block of the visual cycle,... 
Vitamin A - pharmacology | Vitamin A - analogs & derivatives | Humans | Middle Aged | Male | Visual Fields - drug effects | Acyltransferases - metabolism | Acyltransferases - genetics | Retinal Ganglion Cells - pathology | Young Adult | Drug Dosage Calculations | Visual Acuity - drug effects | Adult | Female | cis-trans-Isomerases - metabolism | Anticarcinogenic Agents - adverse effects | Anticarcinogenic Agents - pharmacology | Child | Anticarcinogenic Agents - therapeutic use | Administration, Oral | Retinitis Pigmentosa - drug therapy | Treatment Outcome | Cerebral Cortex - diagnostic imaging | Radiography | Vitamin A - therapeutic use | cis-trans-Isomerases - genetics | Polymorphism, Single Nucleotide | Retinal Neurons - pathology | Vitamin A - adverse effects | Physiological aspects | Research | Retinoids | Lecithin | Drug therapy | Retinitis pigmentosa | Headache | Disease | Retina | Defects | Acuity | Vitamin A | Coherence length | Hemispheres | Vomiting | Functional magnetic resonance imaging | Eye (anatomy) | Safety | Visual fields | Congenital diseases | Abnormalities | Cortex (occipital) | Oral administration | Visual acuity | Nausea | Cortex (visual) | Metabolism | Acyltransferase | Patients | Hospitals | Optical Coherence Tomography | Vision | Retinal degeneration | Photoreceptors | Genetic engineering | Retinitis | Mutation | Gene therapy | Acetic acid | Structure-function relationships | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2016, Volume 24, Issue 12, pp. 1730 - 1738
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2018, Volume 128, Issue 12, pp. 5663 - 5675
Journal Article
Documenta Ophthalmologica, ISSN 0012-4486, 07/2019, pp. 1 - 10
PurposeUsher syndrome (USH) is a multisensory deficiency involving vision, hearing and the vestibular system. The purpose of this study is to report on the... 
Phenotypes | Retinitis pigmentosa | Visual field | Retinitis | Vestibular system | Age | Acuity | Electroretinograms
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 06/2018, Volume 59, Issue 7, pp. 3041 - 3052
PURPOSE. Mutations in the retinitis pigmentosa-1-like-1 (RP1L1) gene are the major cause of autosomal dominant occult macular dystrophy (OCMD), while recessive... 
RP1L1 gene | Retinitis pigmentosa | Occult macular dystrophy | PROTEIN | VARIANTS | OCULOCUTANEOUS ALBINISM | GENOTYPE | P-GENE | FAMILY | MULTIFOCAL ELECTRORETINOGRAPHY | occult macular dystrophy | retinitis pigmentosa | OPHTHALMOLOGY | MFERG | RETINITIS-PIGMENTOSA | Index Medicus
Journal Article
Journal Article