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Publications by Enrico Baruffini

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

American Journal of Human Genetics
Genetics
2012English

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions

Cell Reports
BiochemistryGeneticsMolecular Biology
2017English

Biallelic Mutations inDNM1Lare Associated With a Slowly Progressive Infantile Encephalopathy

Human Mutation
Genetics
2016English

VARS2andTARS2Mutations in Patients With Mitochondrial Encephalomyopathies

Human Mutation
Genetics
2014English

Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast

PLoS ONE
Multidisciplinary
2012English

A Single Nucleotide Polymorphism in the DNA Polymerase Gamma Gene of Saccharomyces Cerevisiae Laboratory Strains Is Responsible for Increased Mitochondrial DNA Mutability

Genetics
Genetics
2007English

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