20082020

Research output per year

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

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Research Output

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A., Severino, M. & 25 others, Hollingsworth, G., Gill, D., Depienne, C., Nava, C., Sadleir, L. G., Caruso, P. A., Lin, A. E., Jansen, F. E., Koeleman, B., Brilstra, E., Willemsen, M. H., Kleefstra, T., Sa, J., Mathieu, M. L., Perrin, L., Lesca, G., Striano, P., Casari, G., Scheffer, I. E., Raible, D., Sattlegger, E., Capra, V., Padilla-Lopez, S., Mefford, H. C. & Kruer, M. C., Jan 1 2020, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

  • Prenatal magnetic resonance imaging within the 26th week of gestation may predict the fate of isolated upward rotation of the cerebellar vermis: insights from a multicentre study

    Conte, G., Caschera, L., Parazzini, C., Cinnante, C., Izzo, G., Talenti, G., Severino, M., Ormitti, F., Palumbo, G., Pinelli, L., Antonelli, A., Manganaro, L., Boito, S., Rossi, A., Triulzi, F. & Righini, A., Jan 1 2020, (Accepted/In press) In : European Radiology.

    Research output: Contribution to journalArticle

  • Role of visual evoked potentials and optical coherence tomography in the screening for optic pathway gliomas in patients with neurofibromatosis type I

    Vagge, A., Camicione, P., Pellegrini, M., Gatti, G., Capris, P., Severino, M., Di Maita, M., Panarello, S. & Traverso, C. E., Jan 1 2020, (Accepted/In press) In : European Journal of Ophthalmology.

    Research output: Contribution to journalArticle

  • Advanced MR imaging and 18F-DOPA PET characteristics of H3K27M-mutant and wild-type pediatric diffuse midline gliomas

    Piccardo, A., Tortora, D., Mascelli, S., Severino, M., Piatelli, G., Consales, A., Pescetto, M., Biassoni, V., Schiavello, E., Massollo, M., Verrico, A., Milanaccio, C., Garrè, M. L., Rossi, A. & Morana, G., 2019, In : European Journal of Nuclear Medicine and Molecular Imaging. 46, 8, p. 1685-1694 10 p.

    Research output: Contribution to journalArticle

    Advanced MR imaging and 18F-DOPA PET characteristics of H3K27M-mutant and wild-type pediatric diffuse midline gliomas

    Piccardo, A., Tortora, D., Mascelli, S., Severino, M., Piatelli, G., Consales, A., Pescetto, M., Biassoni, V., Schiavello, E., Massollo, M., Verrico, A., Milanaccio, C., Garrè, M. L., Rossi, A. & Morana, G., Jul 1 2019, In : European Journal of Nuclear Medicine and Molecular Imaging. 46, 8, p. 1685-1694 10 p.

    Research output: Contribution to journalArticle