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List of works by Paule Bénit

A brain-specific isoform of mitochondrial apoptosis-inducing factor: AIF2

scientific article

Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mapping ⬇️

scientific article published on June 1, 1998

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

scientific article (publication date: May 2003)

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

scientific article

Life with or without AIF

scientific article

Longevity-relevant regulation of autophagy at the level of the acetylproteome

scientific article published in June 2011

Mitochondrial cytochrome c oxidase deficiency

scientific article

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

scientific article

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

scientific article

Spermidine and resveratrol induce autophagy by distinct pathways converging on the acetylproteome ⬇️

scientific article

Succinate dehydrogenase deficiency in human

scientific article

The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes

scientific article

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