Ana C. Martinez-Rodriguez

London, ENG EC1V2PD, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes.

Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes.

Journal: International journal of molecular sciences

Published: June 29, 2026

Using Steady-State Visual Evoked Potentials to Characterize Wide-Ranging Retinopathy Linked to CRB1: Implications for Clinical Trials.

Using Steady-State Visual Evoked Potentials to Characterize Wide-Ranging Retinopathy Linked to CRB1: Implications for Clinical Trials.

Journal: Computational and structural biotechnology journal

Published: December 27, 2025

Metabolomic signatures suggest altered bile acid and energy metabolism in CRB1- retinopathies.

Metabolomic signatures suggest altered bile acid and energy metabolism in CRB1- retinopathies.

Journal: Metabolomics : Official journal of the Metabolomic Society

Published: July 17, 2025

Elevated Visual Crowding in CRB1-Associated Retinopathies: Understanding Functional Visual Deficits Using Child-Friendly Computerized Testing.

Elevated Visual Crowding in CRB1-Associated Retinopathies: Understanding Functional Visual Deficits Using Child-Friendly Computerized Testing.

Journal: Investigative ophthalmology & visual science

Published: May 23, 2025

Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.

Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.

Journal: Ophthalmology science

Published: May 19, 2025

Expanding the Clinical Spectrum of CRB1-Retinopathies: A Novel Genotype-Phenotype Correlation with Macular Dystrophy and Elevated Intraocular Pressure.

Expanding the Clinical Spectrum of CRB1-Retinopathies: A Novel Genotype-Phenotype Correlation with Macular Dystrophy and Elevated Intraocular Pressure.

Journal: International journal of molecular sciences

Published: February 18, 2025

Assessment of CRB1-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography.

Assessment of CRB1-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography.

Journal: Biomedicines

Published: January 14, 2025

Assessing Contrast Sensitivity Function in CRB1-Retinopathies: Exploring Child-Friendly Measures of Visual Function.

Assessing Contrast Sensitivity Function in CRB1-Retinopathies: Exploring Child-Friendly Measures of Visual Function.

Journal: Translational vision science & technology

Published: December 19, 2024

Enhanced Learning and Memory in Patients with CRB1 Retinopathy.

Enhanced Learning and Memory in Patients with CRB1 Retinopathy.

Journal: Genes

Published: May 04, 2024

Intravitreal enzyme replacement for inherited retinal diseases.

Intravitreal enzyme replacement for inherited retinal diseases.

Journal: Current opinion in ophthalmology

Published: January 03, 2024

Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration.

Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration.

Journal: Translational vision science & technology

Published: December 12, 2023

Foveal Hypoplasia in CRB1-Related Retinopathies.

Foveal Hypoplasia in CRB1-Related Retinopathies.

Journal: International journal of molecular sciences

Published: July 25, 2023

Showing 1-12 of 14

Last Updated: 09/26/2026