19992019

Research output per year

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Research Output

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

  • Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

    Scala, M., Brigati, G., Fiorillo, C., Nesti, C., Rubegni, A., Pedemonte, M., Bruno, C., Severino, M., Derchi, M., Minetti, C. & Santorelli, F. M., Aug 7 2019, In : Neurogenetics. 20, 3, p. 165-172 8 p.

    Research output: Contribution to journalArticle