Associated Papers
Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.
Allon G et al.
Investigative Ophthalmology & Visual Science, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.
Matczyńska E et al.
Genes, 2024
Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
Marino V et al.
International Journal of Molecular Sciences, 2021
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.
Chen X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
Manes G et al.
Molecular Vision, 2017
Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase.
Marino V et al.
Human Molecular Genetics, 2015
RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations.
Jiang L et al.
Frontiers in Molecular Neuroscience, 2014
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.
Kamenarova K et al.
Biomed Research International, 2013
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