Valerie Dumas-Desquiret
Angers, 49000, France
Last Updated: 09/26/2026
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Found 72 publications
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.
Journal: Ophthalmology science
Published: February 13, 2026
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
Photodistributed pigmentation revealing mitochondrial disease.
Journal: European journal of dermatology : EJD
Published: February 06, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities.
Journal: American journal of human genetics
Published: November 20, 2024
The copper ionophore disulfiram improves mitochondrial function in various yeast and human cellular models of mitochondrial diseases.
Journal: Human molecular genetics
Published: October 15, 2024
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
Food perception induces fast fragmentation of hepatic mitochondria.
Journal: Trends in endocrinology and metabolism: TEM
Published: May 17, 2024
Long-term persistence of mitochondrial dysfunctions after viral infections and antiviral therapies: A review of mechanisms involved.
Journal: Journal of medical virology
Published: March 25, 2024
Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.
Journal: Journal of translational medicine
Published: February 27, 2024
Last Updated: 09/26/2026