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Collaborations and top research areas from the last five years
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Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review
Muni-Lofra, R., Coratti, G., Duong, T., Medina-Cantillo, J., Civitello, M., Mayhew, A., Finkel, R., Mercuri, E. M., Marini-Bettolo, C. & Muntoni, F., 2025, In: Neuromuscular Disorders. 49, N/A, p. N/A-N/AResearch output: Contribution to journal › Article
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Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen
Stimpson, G., Fanelli, L., Conway, E., Johnson, E., Berti, B., Scoto, M., Muntoni, F., Mercuri, E. M., Baranello, G., Cornell, N., Stanca, G., Coratti, G. & Pane, M., 2025, In: Developmental Medicine and Child Neurology. 67, 12, p. 1590-1600 11 p.Research output: Contribution to journal › Article
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Corrigendum to “Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review” [NMD, volume 49, article 105341] (Neuromuscular Disorders (2025) 49, (S0960896625000689), (10.1016/j.nmd.2025.105341))
Muni-Lofra, R., Coratti, G., Duong, T., Medina-Cantillo, J., Civitello, M., Mayhew, A., Finkel, R., Mercuri, E. M., Marini-Bettolo, C. & Muntoni, F., 2025, In: Neuromuscular Disorders. N/A, p. N/A-N/AResearch output: Contribution to journal › Article
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Enviromental maternal exposures and the risk of premature birth and intrauterine growth restriction: The Generation Gemelli study protocol of newborn exposome
Villani, L., Pezzullo, A. M., Pastorino, R., Maio, A., Stollagli, F., Tirone, C., Barba, M., Cozzolino, A. M., Marafon, D. P., Porcelli, M., Sbordone, A., Patti, M. L., Bottoni, A., Paladini, A., Fattore, S., Romeo, D. M. M., Parolini, O., Lattanzi, W., Rindi, G. & Tamagnone, L. & 13 others, , 2025, In: PLoS One. 20, 1, p. N/A-N/AResearch output: Contribution to journal › Article
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High Expression of SMN circ4-2b-3 in SMA I Children Treated with Nusinersen is Associated with Improved Motor Outcomes
Guerra, M., Marini, A., Pagliarini, V., Pitolli, C., Coratti, G., Bonvissuto, D., Bravetti, C., Pane, M., Mercuri, E. M., Sette, C. & Pera, M. C., 2025, In: Molecular Neurobiology. 62, 5, p. 5640-5649 10 p.Research output: Contribution to journal › Article
Datasets
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Additional file 4 of Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
Fusto, A. (Creator), Cassandrini, D. (Creator), Fiorillo, C. (Creator), Codemo, V. (Creator), Astrea, G. (Creator), D’Amico, A. (Creator), Maggi, L. (Creator), Magri, F. (Creator), Pane, M. (Creator), Tasca, G. (Creator), Sabbatini, D. (Creator), Bello, L. (Creator), Battini, R. (Creator), Bernasconi, P. (Creator), Fattori, F. (Creator), Bertini, E. S. (Creator), Comi, G. (Creator), Messina, S. (Creator), Mongini, T. (Creator), Moroni, I. (Creator), Panicucci, C. (Creator), Berardinelli, A. (Creator), Donati, A. (Creator), Nigro, V. (Creator), Pini, A. (Creator), Giannotta, M. (Creator), Dosi, C. (Creator), Ricci, E. (Creator), Mercuri, E. (Creator), Minervini, G. (Creator), Tosatto, S. (Creator), Santorelli, F. (Creator), Bruno, C. (Creator), Pegoraro, E. (Creator) & Magri, F. (Creator), figshare, 2022
DOI: 10.6084/m9.figshare.19607295, https://springernature.figshare.com/articles/dataset/Additional_file_4_of_Expanding_the_clinical-pathological_and_genetic_spectrum_of_RYR1-related_congenital_myopathies_with_cores_and_minicores_an_Italian_population_study/19607295
Dataset
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Additional file 2 of Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
Fusto, A. (Creator), Cassandrini, D. (Creator), Fiorillo, C. (Creator), Codemo, V. (Creator), Astrea, G. (Creator), D’Amico, A. (Creator), Maggi, L. (Creator), Magri, F. (Creator), Pane, M. (Creator), Tasca, G. (Creator), Sabbatini, D. (Creator), Bello, L. (Creator), Battini, R. (Creator), Bernasconi, P. (Creator), Fattori, F. (Creator), Bertini, E. S. (Creator), Comi, G. (Creator), Messina, S. (Creator), Mongini, T. (Creator), Moroni, I. (Creator), Panicucci, C. (Creator), Berardinelli, A. (Creator), Donati, A. (Creator), Nigro, V. (Creator), Pini, A. (Creator), Giannotta, M. (Creator), Dosi, C. (Creator), Ricci, E. (Creator), Mercuri, E. (Creator), Minervini, G. (Creator), Tosatto, S. (Creator), Santorelli, F. (Creator), Bruno, C. (Creator), Pegoraro, E. (Creator) & Magri, F. (Creator), figshare, 2022
DOI: 10.6084/m9.figshare.19607289.v1, https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Expanding_the_clinical-pathological_and_genetic_spectrum_of_RYR1-related_congenital_myopathies_with_cores_and_minicores_an_Italian_population_study/19607289/1
Dataset
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Additional file 1 of Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
Fusto, A. (Creator), Cassandrini, D. (Creator), Fiorillo, C. (Creator), Codemo, V. (Creator), Astrea, G. (Creator), D’Amico, A. (Creator), Maggi, L. (Creator), Magri, F. (Creator), Pane, M. (Creator), Tasca, G. (Creator), Sabbatini, D. (Creator), Bello, L. (Creator), Battini, R. (Creator), Bernasconi, P. (Creator), Fattori, F. (Creator), Bertini, E. S. (Creator), Comi, G. (Creator), Messina, S. (Creator), Mongini, T. (Creator), Moroni, I. (Creator), Panicucci, C. (Creator), Berardinelli, A. (Creator), Donati, A. (Creator), Nigro, V. (Creator), Pini, A. (Creator), Giannotta, M. (Creator), Dosi, C. (Creator), Ricci, E. (Creator), Mercuri, E. (Creator), Minervini, G. (Creator), Tosatto, S. (Creator), Santorelli, F. (Creator), Bruno, C. (Creator), Pegoraro, E. (Creator) & Magri, F. (Creator), figshare, 2022
DOI: 10.6084/m9.figshare.19607286, https://springernature.figshare.com/articles/figure/Additional_file_1_of_Expanding_the_clinical-pathological_and_genetic_spectrum_of_RYR1-related_congenital_myopathies_with_cores_and_minicores_an_Italian_population_study/19607286
Dataset
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Additional file 2 of Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
Fusto, A. (Creator), Cassandrini, D. (Creator), Fiorillo, C. (Creator), Codemo, V. (Creator), Astrea, G. (Creator), D’Amico, A. (Creator), Maggi, L. (Creator), Magri, F. (Creator), Pane, M. (Creator), Tasca, G. (Creator), Sabbatini, D. (Creator), Bello, L. (Creator), Battini, R. (Creator), Bernasconi, P. (Creator), Fattori, F. (Creator), Bertini, E. S. (Creator), Comi, G. (Creator), Messina, S. (Creator), Mongini, T. (Creator), Moroni, I. (Creator), Panicucci, C. (Creator), Berardinelli, A. (Creator), Donati, A. (Creator), Nigro, V. (Creator), Pini, A. (Creator), Giannotta, M. (Creator), Dosi, C. (Creator), Ricci, E. (Creator), Mercuri, E. (Creator), Minervini, G. (Creator), Tosatto, S. (Creator), Santorelli, F. (Creator), Bruno, C. (Creator), Pegoraro, E. (Creator) & Magri, F. (Creator), figshare, 2022
DOI: 10.6084/m9.figshare.19607289, https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Expanding_the_clinical-pathological_and_genetic_spectrum_of_RYR1-related_congenital_myopathies_with_cores_and_minicores_an_Italian_population_study/19607289
Dataset
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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
Fiorillo, C. (Contributor), Astrea, G. (Contributor), Savarese, M. (Contributor), Cassandrini, D. (Contributor), Brisca, G. (Contributor), Trucco, F. (Contributor), Pedemonte, M. (Contributor), Trovato, R. (Contributor), Ruggiero, L. (Contributor), Vercelli, L. (Contributor), D'Amico, A. (Contributor), Tasca, G. (Contributor), Pane, M. (Contributor), Fanin, M. (Contributor), Bello, L. (Contributor), Broda, P. (Contributor), Musumeci, O. (Contributor), Rodolico, C. (Contributor), Messina, S. (Contributor), Vita, G. L. (Contributor), Sframeli, M. (Contributor), Gibertini, S. (Contributor), Morandi, L. (Contributor), Mora, M. (Contributor), Maggi, L. (Contributor), Petrucci, A. (Contributor), Massa, R. (Contributor), Grandis, M. (Contributor), Toscano, A. (Contributor), Pegoraro, E. (Contributor), Mercuri, E. (Contributor), Bertini, E. (Contributor), Mongini, T. (Contributor), Santoro, L. (Contributor), Nigro, V. (Contributor), Minetti, C. (Contributor), Santorelli, F. M. (Contributor) & Bruno, C. (Contributor), figshare, 2016
DOI: 10.6084/m9.figshare.c.3599513, https://figshare.com/collections/MYH7-related_myopathies_clinical_histopathological_and_imaging_findings_in_a_cohort_of_Italian_patients/3599513
Dataset