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Fingerprint Dive into the research topics where Dario Ronchi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 61 Similar Profiles
Mutation Medicine & Life Sciences
Mitochondrial DNA Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Genes Medicine & Life Sciences
Limb-Girdle Muscular Dystrophies Medicine & Life Sciences
Registries Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Chronic Progressive External Ophthalmoplegia Medicine & Life Sciences

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Research Output 2008 2019

Lipomatosis incidence and characteristics in an Italian cohort of mitochondrial patients

Musumeci, O., Barca, E., Lamperti, C., Servidei, S., Comi, G. P., Moggio, M., Mongini, T., Siciliano, G., Filosto, M., Pegoraro, E., Primiano, G., Ronchi, D., Vercelli, L., Orsucci, D., Bello, L., Zeviani, M., Mancuso, M. & Toscano, A., Jan 1 2019, In : Frontiers in Neurology. 10, FEB, 160.

Research output: Contribution to journalArticle

Open Access
Lipomatosis
Lipoma
Incidence
Mitochondrial Diseases
MERRF Syndrome
1 Citation (Scopus)
Ataxia
Ranvier's Nodes
Spinocerebellar Degenerations
Induced Pluripotent Stem Cells
Mutation

Novel mutations in DNA2 associated with myopathy and mtDNA instability

Ronchi, D., Liu, C., Caporali, L., Piga, D., Li, H., Tagliavini, F., Valentino, M. L., Ferrò, M. T., Bini, P., Zheng, L., Carelli, V., Shen, B. & Comi, G. P., 2019, In : Annals of Clinical and Translational Neurology. 6, 9, p. 1893-1899

Research output: Contribution to journalArticle

Open Access
Muscular Diseases
Mitochondrial DNA
Mutation
Mitochondrial Myopathies
Nuclear Proteins
4 Citations (Scopus)

A de novo C19orf12 heterozygous mutation in a patient with MPAN

Monfrini, E., Melzi, V., Buongarzone, G., Franco, G., Ronchi, D., Dilena, R., Scola, E., Vizziello, P., Bordoni, A., Bresolin, N., Comi, G. P., Corti, S. & Di Fonzo, A., 2018, In : Parkinsonism and Related Disorders. 48, p. 109-111

Research output: Contribution to journalArticle

6 Citations (Scopus)

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

Ripolone, M., Violano, R., Ronchi, D., Mondello, S., Nascimbeni, A., Colombo, I., Fagiolari, G., Bordoni, A., Fortunato, F., Lucchini, V., Simona, S., Filosto, M., Musumeci, O., Tonin, P., Mongini, T., Previtali, S., Morandi, L., Angelini, C., Mora, M., Sandri, M. & 4 others, Sciacco, M., Toscano, A., Comi, G. P. & Moggio, M., 2018, In : Neuropathology and Applied Neurobiology. 44, 5, p. 449-462

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Skeletal Muscle
Muscles
Biopsy