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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.

  • 2 Similar Profiles
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genotype Medicine & Life Sciences
Wolf-Hirschhorn Syndrome Medicine & Life Sciences
Coccyx Medicine & Life Sciences
Synaptotagmin I Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Exons Medicine & Life Sciences

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Research Output 2018 2019

Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS

Lattante, S., Doronzio, P. N., Marangi, G., Conte, A., Bisogni, G., Bernardo, D., Russo, T., Lamberti, D., Patrizi, S., Apollo, F. P., Lunetta, C., Scarlino, S., Pozzi, L., Zollino, M., Riva, N. & Sabatelli, M., Dec 2019, In : Neurobiology of Aging. 84, p. 239.e9-239.e14

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Phosphotransferases
Genes
Amyotrophic lateral sclerosis 1

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

Molecular Pathology
Consensus
Respiration
Self-Help Groups
Autonomic Nervous System

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

Microcephaly
Centrosome
Genes
Exome
Recessive Genes

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

Disease-Free Survival
Survival
Therapeutics
Uveal melanoma
pembrolizumab

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

Amyotrophic Lateral Sclerosis
Genome-Wide Association Study
Linkage Disequilibrium
Random Allocation
Smoking