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

  • 8 Similar Profiles
Mitochondrial Myopathies Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Ataxia Medicine & Life Sciences
Mutation Medicine & Life Sciences
Retinal Dystrophies Medicine & Life Sciences
Electron Transport Medicine & Life Sciences
Glycine Decarboxylase Complex H-Protein Medicine & Life Sciences
Microphthalmos Medicine & Life Sciences

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Research Output 2016 2019

  • 19 Citations
  • 2 h-Index
  • 2 Article
  • 1 Letter

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

Catania, A., Legati, A., Peverelli, L., Nanetti, L., Marchet, S., Zanetti, N., Lamperti, C. & Ghezzi, D., May 1 2019, In : American Journal of Medical Genetics, Part A. 179, 5, p. 827-831 5 p.

Research output: Contribution to journalArticle

Mitochondrial Myopathies
Ataxia
Retinal Dystrophies
Microphthalmos
Exome
4 Citations (Scopus)

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

Translated title of the contribution: A myopathy, lactic acidosis, sideroblastic anemia (MLASA) case due to a novel PUS1 mutationKasapkara, Ç. S., Tümer, L., Zanetti, N., Ezgü, F., Lamantea, E. & Zeviani, M., Jan 1 2017, In : Turkish Journal of Hematology. 34, 4, p. 376-377 2 p.

Research output: Contribution to journalLetter

15 Citations (Scopus)

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

Torraco, A., Ardissone, A., Invernizzi, F., Rizza, T., Fiermonte, G., Niceta, M., Zanetti, N., Martinelli, D., Vozza, A., Verrigni, D., Di Nottia, M., Lamantea, E., Diodato, D., Tartaglia, M., Dionisi-Vici, C., Moroni, I., Farina, L., Bertini, E., Ghezzi, D. & Carrozzo, R., Oct 26 2016, (Accepted/In press) In : Journal of Neurology. p. 1-10 10 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Glycine Decarboxylase Complex H-Protein
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Ketoglutarate Dehydrogenase Complex