Naig Gueguen
Angers, France
Last Updated: 09/26/2026
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Found 74 publications
COQ7-Related Neuropathy: Two New Cases and Review of the Literature.
Journal: Journal of the peripheral nervous system : JPNS
Published: April 02, 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
Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.
Journal: Molecular genetics and metabolism
Published: August 01, 2025
McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.
McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.
Journal: Neuromuscular disorders : NMD
Published: March 28, 2025
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
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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Journal: Annals of clinical and translational neurology
Published: February 26, 2024
Last Updated: 09/26/2026