Associated Papers
Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging.
Mihalek I et al.
Translational Vision Science & Technology, 2025
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Biofeedback Rehabilitation and Visual Cortex Response in Stargardt's Disease: A Randomized Controlled Trial.
Melillo P et al.
Translational Vision Science & Technology, 2020
Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.
Paavo M et al.
Journal of Neuroscience Research, 2019
Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2015
Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2014
Quantitative fundus autofluorescence in recessive Stargardt disease.
Burke TR et al.
Investigative Ophthalmology & Visual Science, 2014
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2012
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
Passerini I et al.
Eye (london, England), 2010
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Stenirri S et al.
Clinical Chemistry, 2004
Denaturing HPLC analysis of DNA deletions and insertions.
Cremonesi L et al.
Human Mutation, 2003
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.
Fumagalli A et al.
Human Genetics, 2001
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
Simonelli F et al.
Investigative Ophthalmology & Visual Science, 2000
Genotype-phenotype correlation in Italian families with Stargardt disease.
Simonelli F et al.
Ophthalmic Research, 0