Author

Benedetta Ruzzenente

InsermORCID 0000-0001-7366-114XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:cancer & tumor microenvironment· 1 Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1

Frequent Co-Authors

Metodi Dimitrov MetodieviD· 2 shared Agnes Rotig· 1 shared Agnès RötigiD· 1 shared Arnold MünnichiD· 1 shared Charles‐Joris RouxiD· 1 shared Clovis Gaborit· 1 shared Coralie ZangarelliiD· 1 shared Federico Mingozzi· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetics

Metodi Dimitrov MetodievORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintNov 13, 2026

LRPPRC gene replacement therapy preserves cardiac function and prevents premature death in a mouse model of mitochondrial disease

Sofia Zanin, Franck Lager, Marcelo Simon-Sola…·Benedetta Ruzzenente

This study demonstrates that AAV-mediated LRPPRC gene replacement in mice prevents cardiac dysfunction and extends survival in a mitochondrial disease model.

DOI 10.64898/2026.11.12.762002

mouseexperimental assay

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedNov 9, 2020

Novel FARS2 mutations in patients with non-fatal early onset encephalopathy with or without epilepsy

Giulia Barcia, Marlène Rio, Zahra Assouline…·Benedetta Ruzzenente

The paper reports three novel compound heterozygous FARS2 mutations in patients with non-fatal early onset encephalopathy and epilepsy.

12 citations

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