Enrico Baruffini

15PUBLICATIONS
53CO-AUTHORS
Medical devicesMedical infection agents (incl. prions)OptometryMedical mycologyMedical robotics
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Publications (15)

|Jan 25, 2025
De Novo <i>DNM1L</i> Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

Martina Magistrati, Luisa Zupin, Eleonora Lamantea

|Apr 20, 2024
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.

Raquel Brañas Casas, Alessandro Zuppardo, Giovanni Risato

|Sep 21, 2023
Recessive <i>MECR</i> pathogenic variants cause an LHON-like optic neuropathy.

Claudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla

|Jul 14, 2023
Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast <i>Saccharomyces cerevisiae</i>.

Martina Magistrati, Alexandru Ionut Gilea, Maria Carla Gerra

|Feb 11, 2023
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models.

Martina Magistrati, Alexandru Ionut Gilea, Camilla Ceccatelli Berti

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