Ronchi, Dario

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

Kornblum, C., Nicholls, T. J., Haack, T. B., Schöler, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., et al. (2013) · Nature Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 232

The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

Di Fonzo, A., Ronchi, D., Lodi, T., Fassone, E., Tigano, M., Lamperti, C., Corti, S., Bordoni, A., Fortunato, F., Nizzardo, M., et al. (2009) · The American Journal of Human Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 141

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms

Nizzardo, M., Nardini, M., Ronchi, D., Salani, S., Donadoni, C., Fortunato, F., Colciago, G., Falcone, M., Simone, C., Riboldi, G., et al. (2011) · Experimental Neurology

Neurogenetic and Muscular Disorders ResearchAmyotrophic Lateral Sclerosis Research

Cited by 64