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1.
Bruni, F.* et al.: Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum. Mutat. 39, 563-578 (2018)
2.
Repp, B. et al.: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? Orphanet J. Rare Dis. 13:120 (2018)
3.
Diodato, D.* et al.: Common and novel TMEM70 mutations in a cohort of Italian patients with mitochondrial encephalocardiomyopathy. JIMD Rep. 15, 71-78 (2015)
4.
Dallabona, C.* et al.: Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82, 2063-2071 (2014)
5.
Diodato, D.* et al.: VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum. Mutat. 35, 983-989 (2014)
6.
Melchionda, L.* et al.: Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 95, 315-325 (2014)