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Author

A. Trimouille

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Review Open access Aug 2026

Primary Mitochondrial-Disorders-Associated Nephropathy in Adulthood

Advances in next-generation sequencing, including mitochondrial genome sequencing and exome or whole-genome sequencing, are transforming the diagnostic approach to MIDAN, and improved recognition of mitochondrial etiologies in adults with unexplained glomerular or tubulo-interstitial kidney disease is essential to opti...

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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