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Collaborations and top research areas from the last five years
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Cross-cultural adaptation of the Italian version of the "Child and Youth Mental Health Instrument for Developmental Disabilities" (I-ChYMH-DD)
Sforza, E., Leoni, C., De, R. E., Bellani, J., Viscogliosi, G., Di, P. A., Zampino, M., Fischetto, R., Pane, M., Rigante, D., Servidei, S., Primiano, G. A., Onesimo, R., Carfì, A. & Giuseppe, Z., 2026, In: THE ITALIAN JOURNAL OF PEDIATRICS. 2026, 52(1):66, p. 1-5 5 p.Research 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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Cost-effectiveness of treatments for presymptomatic newborn patients with spinal muscular atrophy and two or three copies of the survival motor neuron 2 gene in Italy
Valentini, I., Ghetti, G., Pane, M., Rumi, F., Di Brino, E., Basile, M., Pistillo, G. & Bischof, M., 2025, In: THE EUROPEAN JOURNAL OF HEALTH ECONOMICS. 06, p. N/A-N/A 18 p.Research output: Contribution to journal › Article
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Do rare genetic conditions exhibit a specific phonotype? A comprehensive description of the vocal traits associated with Crisponi/Cold-Induced Sweating Syndrome type 1.
Calà, F., Sforza, E., D'Alatri, L., Frassineti, L., Manfredi, C., Onesimo, R., Rigante, D., Pane, M., Servidei, S., Primiano, G. A., Crisponi, G., Crisponi, L., Leoni, C., Lanatà, A. & Zampino, G., 2025, In: Genes. 2025, 16: 881, p. 1-10 10 p.Research 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