20182020

Research output per year

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

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Research Output

SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum

Tasca, G., Lattante, S., Marangi, G., Conte, A., Bernardo, D., Bisogni, G., Mandich, P., Zollino, M., Ragozzino, E., Udd, B. & Sabatelli, M., Jan 1 2020, (Accepted/In press) In : European Journal of Neurology.

Research output: Contribution to journalArticle

  • Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

    Zollino, M., Zweier, C., Van Balkom, I. D., Sweetser, D. A., Alaimo, J., Bijlsma, E. K., Cody, J., Elsea, S. H., Giurgea, I., Macchiaiolo, M., Smigiel, R., Thibert, R. L., Benoist, I., Clayton-Smith, J., De Winter, C. F., Deckers, S., Gandhi, A., Huisman, S., Kempink, D., Kruisinga, F. & 12 others, Lamacchia, V., Marangi, G., Menke, L., Mulder, P., Nordgren, A., Renieri, A., Routledge, S., Saunders, C. J., Stembalska, A., Van Balkom, H., Whalen, S. & Hennekam, R. C., Apr 2019, In : Clinical Genetics. 95, 4, p. 462-478 17 p.

    Research output: Contribution to journalReview article

  • Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

    Undiagnosed Diseases Network (UDN), Sep 2019, In : Genetics in Medicine. 21, 9, p. 2043-2058 16 p.

    Research output: Contribution to journalArticle

  • Pembrolizumab as first-line treatment for metastatic uveal melanoma

    Rossi, E., Pagliara, M. M., Orteschi, D., Dosa, T., Sammarco, M. G., Caputo, C. G., Petrone, G., Rindi, G., Zollino, M., Blasi, M. A., Cassano, A., Bria, E., Tortora, G. & Schinzari, G., Jul 2019, In : Cancer Immunology and Immunotherapy. 68, 7, p. 1179-1185 7 p.

    Research output: Contribution to journalArticle

  • Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

    The ITALSGEN Consortium & The International ALS Genomics Consortium, Jan 1 2019, In : Annals of Neurology.

    Research output: Contribution to journalArticle