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Vanessa Zanette

Federal University of Paraná

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NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.

2021 Genetics and Molecular Biology
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Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations

2020 Neurology Genetics
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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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