Daria Diodato

Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations

Cristina Dallabona, Daria Diodato, Sietske H. Kevelam et al. · Neurology · 2014 · 203 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

Daniele Ghezzi, Paola Arzuffi, Mauro Agostino Zordan et al. · Nature Genetics · 2011 · 175 citations

Life Sciences, Genetics, Molecular Genetics +14

<i>VARS2</i>and<i>TARS2</i>Mutations in Patients with Mitochondrial Encephalomyopathies

Daria Diodato, Laura Melchionda, Tobias B. Haack et al. · Human Mutation · 2014 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Birgit Repp, Elisa Mastantuono, Charlotte L. Alston et al. · Orphanet Journal of Rare Diseases · 2018 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Laura Melchionda, Tobias B. Haack, Steven Hardy et al. · The American Journal of Human Genetics · 2014 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17