Aurelien Trimouille

Bordeaux, France

Last Updated: 09/26/2026

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Found 63 publications

TTC19-related mitochondrial disease: A characteristic neuroimaging signature?

TTC19-related mitochondrial disease: A characteristic neuroimaging signature?

Journal: Molecular genetics and metabolism

Published: June 02, 2026

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Journal: Neurology

Published: January 15, 2026

Phenotypic description and functional characterization of the mitochondrial disease associated with the SFXN4 gene.

Phenotypic description and functional characterization of the mitochondrial disease associated with the SFXN4 gene.

Journal: Mitochondrion

Published: December 01, 2025

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics

Published: November 12, 2025

Elamipretide in pediatric Barth syndrome: from heart failure to school return.

Elamipretide in pediatric Barth syndrome: from heart failure to school return.

Journal: Orphanet journal of rare diseases

Published: October 03, 2025

Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies.

Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies.

Journal: Molecular genetics and metabolism reports

Published: March 30, 2025

A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1.

A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1.

Journal: Gene

Published: August 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

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Journal: Journal of medical genetics

Published: January 05, 2024

Pharmacogenetics of aminoglycoside ototoxicity: State of knowledge and practices - Recommendations of the Francophone Network of Pharmacogenetics (RNPGx)

Pharmacogenetics of aminoglycoside ototoxicity: State of knowledge and practices - Recommendations of the Francophone Network of Pharmacogenetics (RNPGx)

Journal: Therapie

Published: December 22, 2023

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Journal: American journal of human genetics

Published: May 28, 2023

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: May 12, 2023

Showing 1-12 of 63

Last Updated: 09/26/2026