Raffaella Pierri-Brunetti
Naples, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 16 publications
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
Journal: NEJM evidence
Published: July 01, 2022
Applications of Optical Coherence Tomography in the Ocular Diagnosis: From the Tear Film to the Sclera.
Journal: Diagnostics (Basel, Switzerland)
Published: February 15, 2022
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Journal: Investigative ophthalmology & visual science
Published: February 07, 2022
Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients.
Journal: Translational vision science & technology
Published: September 23, 2021
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Journal: Investigative ophthalmology & visual science
Published: July 01, 2021
Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants.
Journal: Diagnostics (Basel, Switzerland)
Published: May 28, 2021
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
Journal: International journal of molecular sciences
Published: December 30, 2020
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
Journal: Investigative ophthalmology & visual science
Published: December 29, 2020
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
Journal: International journal of molecular sciences
Published: October 10, 2019
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.
Journal: Molecular genetics & genomic medicine
Published: February 22, 2019
Last Updated: 09/26/2026