Enrico Baruffini
Parma, 43124, Italy
Last Updated: 09/26/2026
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Found 49 publications
Progressive cognitive impairment and ventricular tachycardia in a boy with biallelic POLG variants and a de novo RYR2 variation.
Journal: Scientific reports
Published: August 21, 2025
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.
Journal: International journal of molecular sciences
Published: December 04, 2024
Multicystic Interstitial Lung Disease Due to a Novel Biallelic C-C Chemokine Receptor Type 2 Variant.
Journal: Pediatric pulmonology
Published: August 18, 2024
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
Journal: Frontiers in genetics
Published: May 24, 2024
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae.
Journal: Human molecular genetics
Published: January 17, 2024
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.
Journal: Cell death & disease
Published: November 30, 2023
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Journal: IUBMB life
Published: May 31, 2023
Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae.
Journal: International journal of molecular sciences
Published: May 30, 2023
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Journal: Journal of medical genetics
Published: April 17, 2023
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models.
Journal: International journal of molecular sciences
Published: December 28, 2022
Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.
Journal: Genes
Published: October 29, 2021
Last Updated: 09/26/2026