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Author

Claudio Fiorini

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#gene editing Open access Oct 2026

Mitochondrial genome editing reveals the impact of complex I heteroplasmic variants on human neurogenesis

Mitochondrial DNA (mtDNA) variants, whether maternally inherited or acquired somatically during aging, can be particularly detrimental to cells that rely on mitochondrial metabolism such as neurons. The functional consequences of mtDNA variants are thought to depend on their heteroplasmy, defined as the proportion of m...

I. Tolle, Claudio Fiorini, J. Dobner et al. · 0 citations
Open access Aug 2026

Could NQO1 genotypes impact the results of clinical trials with idebenone?

Carelli et al. argue that new insights into how NQO1 influences the response to idebenone warrant reevaluating the results of previous clinical trials, including those in Friedreich ataxia and Duchenne muscular dystrophy, using patient stratification by NQO1 genotype.

V. Carelli, Martina Romagnoli, F. Fortuna et al. · 0 citations
Case report Open access Aug 2026

Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder

This case highlights the wide phenotypic spectrum of CX43-related disorders and suggests the importance of testing the GJA1 gene in individuals with atypical presentations, including predominant or isolated neurological phenotypes such as late-onset spastic paraplegia.

Irene Ambrosetti, F. Palombo, Diego D'Angeli et al. · 0 citations

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