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Collaborations and top research areas from the last five years
Research output
- 188 Article
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Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study
Doronzio, P. N., Lattante, S., Bernardo, D., Patanella, A. K., Bisogni, G., Meleo, E., Del, G. E., Colavito, D., Porro, L. M., Sabatelli, E., Conte, A., Zollino, M., Sabatelli, M. & Marangi, G., 2025, In: Journal of Neurology. 272, 7, p. 455-455 1 p.Research output: Contribution to journal › Article
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Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study
Doronzio, P. N., Lattante, S., Bernardo, D., Patanella, A. K., Bisogni, G., Meleo, E., Del, G. E., Colavito, D., Porro, L. M., Sabatelli, E., Conte, A., Zollino, M., Sabatelli, M. & Marangi, G., 2025, In: Journal of Neurology. 272, 7, p. 455-455 1 p.Research output: Contribution to journal › Article
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Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy
L'Erario, F. F., Gazzellone, A., Contaldo, I., Veredice, C., Carapelle, M., Renzi, A. G., Modafferi, C., Palucci, M., D'Ambrosio, P., Sonnini, E., Loberti, L., Panfili, A., Lucci Cordisco, E., Chiurazzi, P., Trevisan, V., Leoni, C., Zampino, G., Pomponi, M. G., Orteschi, D. & Zollino, M. & 1 others, , 2025, In: Genes. 16, 4, p. 469-469 1 p.Research output: Contribution to journal › Article
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The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure
L'Erario, F. F., Marangi, G., Renzi, A. G., Carapelle, M., Doronzio, P. N., Pasquetti, D., Maietta, S., Sonnini, E., Gazzellone, A. & Zollino, M., 2025, In: GENES & DISEASES. 12, 6, p. N/A-N/AResearch output: Contribution to journal › Article
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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
Peron, A., D'Arco, F., Aldinger, K. A., Smith-Hicks, C., Zweier, C., Gradek, G. A., Bradbury, K., Accogli, A., Andersen, E. F., Au, P. Y. B., Battini, R., Beleford, D., Bird, L. M., Bouman, A., -L., B. A., Busk, O. L., Campeau, P. M., Capra, V., Carlston, C. & Carmichael, J. & 57 others, , 2024, In: European Journal of Human Genetics. N/A, p. N/A-N/AResearch output: Contribution to journal › Article
Datasets
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Candidate genes for the recurrence of glioblastoma multiforme identified by microarray
Mangiola, A. (Contributor), Saulnier, N. (Contributor), De Bonis, P. (Contributor), Orteschi, D. (Contributor), Sica, G. (Contributor), Lama, G. (Contributor), Sabatino, G. (Contributor), Zollino, M. (Contributor), Lauriola, L. (Contributor), Colabianchi, A. (Contributor), Proietti, G. (Contributor), Kovacs, G. (Contributor), Maira, G. (Contributor) & Anile, C. (Contributor), ArrayExpress, 2009
https://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-13276
Dataset
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A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report
Macchiaiolo, M. (Creator), Panfili, F. M. (Creator), Vecchio, D. (Creator), Gonfiantini, M. V. (Creator), Cortellessa, F. (Creator), Caciolo, C. (Creator), Zollino, M. (Creator), Accadia, M. (Creator), Seri, M. (Creator), Chinali, M. (Creator), Mammì, C. (Creator), Tartaglia, M. (Creator), Bartuli, A. (Creator), Alfieri, P. (Creator) & Priolo, M. (Creator), figshare, 2022
DOI: 10.6084/m9.figshare.c.6053353, https://springernature.figshare.com/collections/A_deep_phenotyping_experience_up_to_date_in_management_and_diagnosis_of_Malan_syndrome_in_a_single_center_surveillance_report/6053353
Dataset
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A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report
Macchiaiolo, M. (Creator), Panfili, F. M. (Creator), Vecchio, D. (Creator), Gonfiantini, M. V. (Creator), Cortellessa, F. (Creator), Caciolo, C. (Creator), Zollino, M. (Creator), Accadia, M. (Creator), Seri, M. (Creator), Chinali, M. (Creator), Mammì, C. (Creator), Tartaglia, M. (Creator), Bartuli, A. (Creator), Alfieri, P. (Creator) & Priolo, M. (Creator), figshare, 2022
DOI: 10.6084/m9.figshare.c.6053353.v1, https://springernature.figshare.com/collections/A_deep_phenotyping_experience_up_to_date_in_management_and_diagnosis_of_Malan_syndrome_in_a_single_center_surveillance_report/6053353/1
Dataset