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Andrea Degiorgi

University of Parma

3

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15

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Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.

2021 International Journal of Molecular Sciences
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Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease.

2020 Biochimica et Biophysica Acta
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Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.

2020 Journal of Medical Genetics
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