Disease: Stargardt disease 4
- A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report
- Analysis of the Outer Retinal Bands in ABCA4 and PRPH2-Associated Retinopathy using OCT
- Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant <em>ABCA4</em> c.5461-10T>C
- Compound heterozygous novel frameshift variants in the <em>PROM1</em> gene result in Leber congenital amaurosis
- Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
- eIF2α incites photoreceptor cell and retina damage by all-trans-retinal
- Expanding the phenotype of <em>THRB</em>: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant
- Genetic identification and molecular modeling characterization reveal a novel <em>PROM1</em> mutation in Stargardt4-like macular dystrophy
- Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy
- Insights Into PROM1-Macular Disease Using Multimodal Imaging
- Jumping the Queue:Willingness to Pay for Faster Access to COVID-19 Vaccines in Seven European Countries
- MACULAR ATROPHY AND PHENOTYPIC VARIABILITY IN AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY DUE TO PROM1 MUTATION
- Microperimetry Reliability Assessed From Fixation Performance
- Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study
- Rapid and Reliable Quantification of Prime Editing Targeting Within the Porcine <em>ABCA4</em> Gene Using a BRET-Based Sensor
- Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing
- Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics and Progression
- The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1)
- Validation of collaborative cyberspace virtual reality oculometry enhanced with near real-time spatial audio