Ileana Ferrero

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Daniele Ghezzi, P Goffrini, Graziella Uziel et al. · Nature Genetics · 2009 · 244 citations

Sdh-defective Infantile Leukoencephalopathy, Disease Mechanism, Genetic Disorder +10

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

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

Valeria Massa, Erika Fernández‐Vizarra, Saad AlShahwan et al. · The American Journal of Human Genetics · 2008 · 191 citations · Full text

Severe Infantile Encephalomyopathy, Biochemistry, Natural Sciences +12

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Veronika Boczonadi, Juliane Müller, Angela Pyle et al. · Nature Communications · 2014 · 154 citations · Full text