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Author

A. Trimouille

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Review Open access Aug 2026

Primary Mitochondrial-Disorders-Associated Nephropathy in Adulthood

Oxidative phosphorylation (OXPHOS) is the main source of cellular adenosine triphosphate (ATP) production and depends on proteins encoded by both mitochondrial and nuclear DNA (nDNA). Pathogenic variants affecting this dual genetic control cause primary mitochondrial disorders (MIDs), which follow either maternal inher...

Hugo Bakis, A. Trimouille, Maximilian Schwarz et al. · 0 citations
Review Open access Jul 2026

TTC19-related mitochondrial disease: A characteristic neuroimaging signature?

TTC19-related mitochondrial disease leads to a severe neurodegenerative phenotype, characterized by early-onset motor and cognitive delays, with a consistent neuroimaging signature involving the striatum and brainstem.

Claire-Marine Bérat, G. Barcia, P. Gaignard et al. · 0 citations

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