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Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants
Figuccia, Sonia, Degiorgi, Andrea, Ceccatelli Berti, Camilla, Baruffini, Enrico, Dallabona, Cristina, Goffrini, Paola
Published in International journal of molecular sciences (26.04.2021)
Published in International journal of molecular sciences (26.04.2021)
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Journal Article
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
Fiorini, Claudio, Degiorgi, Andrea, Cascavilla, Maria Lucia, Tropeano, Concetta Valentina, La Morgia, Chiara, Battista, Marco, Ormanbekova, Danara, Palombo, Flavia, Carbonelli, Michele, Bandello, Francesco, Carelli, Valerio, Maresca, Alessandra, Barboni, Piero, Baruffini, Enrico, Caporali, Leonardo
Published in Journal of medical genetics (01.01.2024)
Published in Journal of medical genetics (01.01.2024)
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Journal Article
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
Benincá, Cristiane, Zanette, Vanessa, Brischigliaro, Michele, Johnson, Mark, Reyes, Aurelio, Valle, Daniel Almeida do, J. Robinson, Alan, Degiorgi, Andrea, Yeates, Anna, Telles, Bruno Augusto, Prudent, Julien, Baruffini, Enrico, S. F. Santos, Mara Lucia, R. de Souza, Ricardo Lehtonen, Fernandez-Vizarra, Erika, J. Whitworth, Alexander, Zeviani, Massimo
Published in Journal of medical genetics (01.03.2021)
Published in Journal of medical genetics (01.03.2021)
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Journal Article
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease
Hoyos-Gonzalez, Nallely, Trasviña-Arenas, Carlos H., Degiorgi, Andrea, Castro-Lara, Atzimaba Y., Peralta-Castro, Antolín, Jimenez-Sandoval, Pedro, Diaz-Quezada, Corina, Lodi, Tiziana, Baruffini, Enrico, Brieba, Luis G.
Published in Biochimica et biophysica acta. General subjects (01.07.2020)
Published in Biochimica et biophysica acta. General subjects (01.07.2020)
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Journal Article
VEICOLO PER USO AGRICOLO CON MEZZI DI ANALISI STATO VEICOLO E COMANDO GRUPPO DIFFERENZIALE
Ribaldone, Massimo, Tremolada, Simone, Degiorgi, Andrea, Dominoni, Stefano
Year of Publication 21.03.2018
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Year of Publication 21.03.2018
Patent