Research output per year

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

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Research Output

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Gotta, F., Lamp, M., Geroldi, A., Trevisan, L., Origone, P., Fugazza, G., Fabbri, S., Nesti, C., Rubegni, A., Morani, F., Santorelli, F. M., Bellone, E. & Mandich, P., Jan 1 2020, (Accepted/In press) In : Annals of Human Genetics.

Research output: Contribution to journalArticle

  • Clinical and molecular studies in two new cases of ARSACS

    Ricca, I., Morani, F., Bacci, G. M., Nesti, C., Caputo, R., Tessa, A. & Santorelli, F. M., Mar 2 2019, In : Neurogenetics. 20, 1, p. 45-49 5 p.

    Research output: Contribution to journalArticle

  • Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

    Tolomeo, D., Rubegni, A., Severino, M., Pochiero, F., Bruno, C., Cassandrini, D., Madeo, A., Doccini, S., Pedemonte, M., Rossi, A., D'Amore, F., Donati, M. A., Di Rocco, M., Santorelli, F. M. & Nesti, C., Apr 15 2019, In : Journal of the Neurological Sciences. 399, p. 69-75 7 p.

    Research output: Contribution to journalArticle

  • Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation

    Nesti, C., Rubegni, A., Tolomeo, D., Baldacci, J., Cassandrini, D., D’Amore, F. & Santorelli, F. M., Aug 1 2019, In : Neurological Sciences. 40, 8, p. 1705-1708 4 p.

    Research output: Contribution to journalArticle

  • Intrafamilial “DOA-plus” phenotype variability related to different OMI/HTRA2 expression

    Napolitano, F., Terracciano, C., Bruno, G., Nesti, C., Barillari, M. R., Barillari, U., Santorelli, F. M., Melone, M. A. B., Esposito, T. & Sampaolo, S., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticle