• 948 Citations
  • 17 h-Index
20082019
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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.

  • 9 Similar Profiles
Brain Medicine & Life Sciences
Neuroimaging Medicine & Life Sciences
Mutation Medicine & Life Sciences
Magnetic Resonance Imaging Medicine & Life Sciences
Pediatrics Medicine & Life Sciences
Hemorrhage Medicine & Life Sciences
Basal Ganglia Medicine & Life Sciences
Mesencephalon Medicine & Life Sciences

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Research Output 2008 2019

  • 948 Citations
  • 17 h-Index
  • 101 Article
  • 12 Chapter
  • 6 Review article
  • 1 Letter

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain : a journal of neurology. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., Aug 14 2019, In : Brain : a journal of neurology.

Research output: Contribution to journalArticle

Globus Pallidus
Homeobox Genes
Putamen
Basal Ganglia
Mutation
Sturge-Weber Syndrome
Cavernous Sinus
Port-Wine Stain
Cerebral Veins
Vascular Malformations
1 Citation (Scopus)

Hymenoptera Venom Allergy: Management of Children and Adults in Clinical Practice

Bilò, M. B., Pravettoni, V., Bignardi, D., Bonadonna, P., Mauro, M., Novembre, E., Quercia, O., Cilia, M., Cortellini, G., Costantino, M. T., Cremonte, L., Lodi Rizzini, F., Macchia, L., Marengo, F., Murzilli, F., Patella, V., Reccardini, F., Ricciardi, L., Ridolo, E., Romano, A. & 4 others, Savi, E., Schiavino, D., Severino, M. & Pastorello, E. A., Jan 1 2019, In : Journal of investigational allergology & clinical immunology. 29, 3, p. 180-205 26 p.

Research output: Contribution to journalReview article

Open Access
Hymenoptera
Venoms
Hypersensitivity
Immunotherapy
Prescriptions

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, F., Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., Divizia, M. T., Striano, P., Ordonez-Herrera, N., Alhashem, A., Al Fares, A., Al Ghamdi, M., Rolfs, A., Bauer, P. & 32 others, Demmers, J., Verheijen, F. W., Wilke, M., van Slegtenhorst, M., van der Spek, P. J., Seri, M., Jansen, A. C., Stottmann, R. W., Hufnagel, R. B., Hopkin, R. J., Aljeaid, D., Wiszniewski, W., Gawlinski, P., Laure-Kamionowska, M., Alkuraya, F. S., Akleh, H., Stanley, V., Musaev, D., Gleeson, J. G., Zaki, M. S., Brunetti-Pierri, N., Cappuccio, G., Davidov, B., Basel-Salmon, L., Bazak, L., Shahar, N. R., Avella, A. B., Mirzaa, G. M., Dobyns, W. B., Pippucci, T., Fornerod, M. & Mancini, G. M. S., Aug 28 2019, In : American Journal of Human Genetics. 17 p.

Research output: Contribution to journalArticle

Arthrogryposis
Sphingomyelin Phosphodiesterase
Microcephaly
Nuclear Envelope
Nuclear Pore Complex Proteins