Patrizia Bonneau-Amati

Angers, France

Last Updated: 09/26/2026

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Found 80 publications

Melas mimicking hydrocephalus.

Melas mimicking hydrocephalus.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: May 04, 2026

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

Journal: JAMA ophthalmology

Published: April 09, 2026

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Journal: Ophthalmology science

Published: February 13, 2026

Analysis of mitochondrial DNA heteroplasmy in sporadic ALS suggests technical limitations rather than disease association.

Analysis of mitochondrial DNA heteroplasmy in sporadic ALS suggests technical limitations rather than disease association.

Journal: Neurobiology of disease

Published: February 10, 2026

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

Journal: Neuro-ophthalmology (Aeolus Press)

Published: February 05, 2026

A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants.

A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants.

Journal: Scientific data

Published: July 02, 2025

The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities.

The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities.

Journal: Molecular genetics and metabolism reports

Published: January 30, 2025

Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.

Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.

Journal: Ocular immunology and inflammation

Published: January 23, 2025

Toxic ethambuthol-induced optic neuropathy in a patient with OPA1 mutation.

Toxic ethambuthol-induced optic neuropathy in a patient with OPA1 mutation.

Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie

Published: July 27, 2024

Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms.

Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms.

Journal: Journal of inherited metabolic disease

Published: July 11, 2024

Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.

Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.

Journal: Journal of translational medicine

Published: February 27, 2024

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Journal: Annals of clinical and translational neurology

Published: February 26, 2024

Showing 1-12 of 80

Last Updated: 09/26/2026