Dario Ronchi

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Cornelia Kornblum, Thomas J. Nicholls, Tobias B. Haack et al. · Nature Genetics · 2013 · 227 citations · Full text

Mitochondrial Myopathy, Genome Instability, Mitochondrial Function +8

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

Michela Guglieri, Francesca Magri, Maria Grazia D’Angelo et al. · Human Mutation · 2007 · 208 citations

Genetics, Genetic Epidemiology, Pathology +18

Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy

Stefania Corti, Monica Nizzardo, Chiara Simone et al. · Science Translational Medicine · 2012 · 204 citations · Full text

Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation

Michelangelo Mancuso, Daniele Orsucci, C. Angelini et al. · Neurology · 2013 · 170 citations

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Michelangelo Mancuso, Daniele Orsucci, C. Angelini et al. · Journal of Neurology · 2013 · 140 citations

Biology, Mendelian Disorder, Genetic Disorder +5