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Pediatric Neurology|July 11, 2009
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsyElisabetta Cesaroni, Marina Scarpelli, Nelia Zamponi, et al.Pediatric Neurology|April 13, 2011
Functional outcome of children with mitochondrial diseasesMihael Rogac, Marija Meznaric, Massimo Zeviani, et al.The Journal of Molecular Diagnostics : JMD|March 30, 2021
Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNAAndrea Legati, Nadia Zanetti, Alessia Nasca, et al.European Journal of Neurology|April 11, 2023
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patientsAnna Ardissone, Giulia Ferrera, Costanza Lamperti, et al.Molecular Genetics and Metabolism|October 11, 2025
Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literatureAlessia Catania, Silvia Marchet, Krisztina Einvag, et al.Molecular Vision|May 8, 2009
Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathyGavin Hudson, Patrick Yu-Wai-Man, Massimo Zeviani, et al.Cell Metabolism|January 10, 2006
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disordersJan A Smeitink, Massimo Zeviani, Douglass M Turnbull, et al.Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.Journal of Medical Genetics|October 24, 2006
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, et al.Antiviral Therapy|October 13, 2005
Zidovudine administration during pregnancy and mitochondrial disease in the offspringPier-Angelo Tovo, Nadia Chiapello, Clara Gabiano, et al.Pageof 36