Giacomo Calzetti - Publications

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Journal: Research square

Published: July 17, 2026

Clinical and molecular features of PRCD-associated retinopathy.

Journal: Acta ophthalmologica

Published: May 07, 2026

CLUAP1 variants cause non-syndromic retinitis pigmentosa.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: February 01, 2026

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.

Journal: JAMA ophthalmology

Published: December 04, 2025

The nosology of tardive parkinsonism.

Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

Published: July 17, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Journal: medRxiv : the preprint server for health sciences

Published: January 20, 2025

Neuroprotection beyond intraocular pressure: game changer or quiet addiction.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: January 16, 2025

Factors Associated With Ocular Perfusion Measurements as Obtained With Laser Speckle Contrast Imaging.

Journal: Translational vision science & technology

Published: November 08, 2024

First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC).

Journal: Annals of human genetics

Published: October 17, 2024

Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.

Journal: Ophthalmic research

Published: May 13, 2024

Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: May 07, 2024