Anna M. De Negri - Publications

Concomitant dominant optic atrophy and juvenile glaucoma in two siblings with a novel OPA1 splicing variant.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: September 05, 2025

Recognizing Leber's Hereditary Optic Neuropathy to avoid delayed diagnosis and misdiagnosis.

Journal: Frontiers in neurology

Published: July 17, 2024

An atypical presentation of Leber's hereditary optic neuropathy in childhood.

Journal: Journal francais d'ophtalmologie

Published: July 13, 2023

AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.

Journal: American journal of ophthalmology

Published: May 21, 2023

Peripapillary hyperreflective ovoid mass-like structures (PHOMS) in patients with acute Leber's hereditary optic neuropathy.

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

Published: April 17, 2023

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.

Journal: Genes

Published: June 09, 2022

Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic Insights.

Journal: American journal of ophthalmology

Published: March 14, 2022

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.

Journal: Annals of clinical and translational neurology

Published: August 07, 2020

Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber's Hereditary Optic Neuropathy during One Year of Follow-up.

Journal: Ophthalmology

Published: December 13, 2018

Role of Liver Transplantation in Bilio-Vascular Liver Injury After Cholecystectomy.

Journal: Transplantation proceedings

Published: November 30, 2015

Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber's hereditary optic neuropathy.

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

Published: December 05, 2014

Predictability and survival in liver replantransplantation: monocentric experience.

Journal: Transplantation proceedings

Published: September 23, 2014