Cristina Dallabona

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

Cristina Dallabona, Daria Diodato, Sietske H. Kevelam et al. · Neurology · 2014 · 201 citations · Full text

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack et al. · The American Journal of Human Genetics · 2012 · 192 citations · Full text

Cardiac Muscle, Genetics, Molecular Biology +19

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Christopher A. Powell, Robert Kopajtich, Aaron R. D’Souza et al. · The American Journal of Human Genetics · 2015 · 101 citations · Full text

<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 · 95 citations · Full text

Mitochondrial Respiratory Chain, Mendelian Disorder, Mitochondrial Biogenesis +13

<i>MTO1</i> Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Enrico Baruffini, Cristina Dallabona, Federica Invernizzi et al. · Human Mutation · 2013 · 83 citations · Full text

Lactic Acidosis, Molecular Physiology, Candidate Gene Mto1 +15