TONDUTI, DAVIDE
TONDUTI, DAVIDE
Dipartimento di Scienze Biomediche e Cliniche
Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future Perspectives
2025 F. Eletti, V.M. Tagi, I.P. Greco, E. Stucchi, G. Fiore, E. Bonaventura, F. Bruschi, D. Tonduti, E. Verduci, G. Zuccotti
Disturbi della sintesi della Prolina: caratterizzazione clinica e strumentale della Leucoencefalopatia correlata a PYCR2
2024 Y. Vaia, E. Mura, F. Bruschi, E. Bonaventura, M. Iascone, S. Gabbiadini, F. Arrigoni, C. Parazzini, D. Tonduti
ELOVL1 nella biosintesi degli acidi grassi: studio di un paziente con una mutazione de novo
2024 Y. Vaia, E. Mura, F. Bruschi, E. Bonaventura, C. Parazzini, D. Tonduti
The expanding knowledge of epilepsy in leukodystrophies
2024 Y. Vaia, E. Minacapilli, S. Masnada, P. Veggiotti, D. Tonduti, M.A.M. Lodi
Preliminary data from the analysis of neuroradiological findings in Type I Alexander Disease
2024 Y. Vaia, F.S.A. Arrigoni, A. Erbetta, I. Moroni, D. Longo, F. Nicita, E. Bertini, S. Libzon, A. Zerem, G. Shahbodagh, M. Heidari, A.R. Tavasoli, G. Lambert, G. Bernard, E. Winter, A. Nagy, F. Eichler, D. Rodriguez, F. Renaldo, O. Boespflug-Tanguy, C. Parazzini, D. Tonduti
Preliminary data from the analysis of neuroradiological findings in Type I Alexander Disease
2024 Y. Vaia, C. Parazzini, F.S. Arrigoni, A. Erbetta, I. Moroni, D. Longo, F. Nicita, E. Bertini, S. Libzon, A. Zerem, G. Shahbodagh, M. Heidari, A.R. Tavasoli, G. Lambert, G. Bernard, E. Winter, A. Nagy, F. Eichler, D. Tonduti
Nucleotide Excision Repair (NER) Disorders as differential diagnosis in isolated hypomyelination
2024 Y. Vaia, F. Gavazzi, A. Vanderver, D. Tonduti
Transcriptional profiling and functional characterization of three genetic variants in SLC16A2 gene
2024 L. Esposito, F. Rey, E. Maghraby, L. Messa, M. Elli, F. Bruschi, G. Zuccotti, L. Alberti, D. Tonduti, S. Carelli, C. Cereda
Transcriptional profiling and functional characterization of 3 patient-derived skin fibroblasts affected by Allan-Herndon-Dudley syndrome
2024 L. Esposito, F. Rey, E. Maghraby, L. Messa, M. Elli, F. Bruschi, G. Zuccotti, D. Tonduti, S. Carelli, C. Cereda
Novel frontiers in aicardi-goutières syndrome: association between a rnu7-1 variant and histone dysfunctions
2024 E. Maghraby, F. Rey, L. Esposito, M. Leone, A. Mauri, R. Allevi, S. Mazzucchelli, G. Zuccotti, D. Tonduti, S. Carelli, C. Cereda
Functional characterization and transcriptional profiling of fibroblasts from patients with mutations in SLC16A2 gene
2024 L. Esposito, F. Rey, E. Maghraby, L. Messa, F. Bruschi, G. Zuccotti, D. Tonduti, S. Carelli, C. Cereda
Further insights into Allan-Herndon-Dudley syndrome: a novel SLC16A2 splice site variant
2024 L. Esposito, A. Mauri, F. Rey, E. Maghraby, B. Castellotti, G. Zuccotti, D. Tonduti, S. Carelli, C. Cereda
Role of epigenetics and alterations in RNA metabolism in leukodystrophies
2024 F. Rey, L. Esposito, E. Maghraby, A. Mauri, C. Berardo, E. Bonaventura, D. Tonduti, S. Carelli, C. Cereda
Cobalamin deficiency in the maternal-newborn dyad identified by neonatal screening: preliminary data from an observational study
2024 C. Montanari, M. Tosi, L. Fiori, A. Lugotti, A. Bosetti, E. Bonaventura, D. Tonduti, L. Alberti, L. Assunta Saielli, C. Cereda, G. Zuccotti, E. Verduci
Microbiota gut-brain axis : implications for pediatric-onset leukodystrophies
2024 Y. Vaia, F. Bruschi, V.M. Tagi, M. Tosi, C. Montanari, G. Zuccotti, D. Tonduti, E. Verduci
Deficit neonatale e materno di vitamina B12: pattern alimentari e intake nutrizionali durante la gravidanza
2023 M. Tosi, C. Montanari, C. Sertori, L. Fiori, A. Bosetti, E. Pendezza, D. Tonduti, C. Cereda, G. Zuccotti, E. Verduci
Expanding the Spectrum of NUBPL-Related Leukodystrophy
2023 D. Tonduti, A.A. Zambon, D. Ghezzi, E. Lamantea, R. Izzo, C. Parazzini, C. Baldoli, M.S. van der Knaap, F. Fumagalli
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring
2023 E. Bonaventura, L. Alberti, S. Lucchi, L. Cappelletti, S. Fazzone, E. Cattaneo, M. Bellini, G. Izzo, C. Parazzini, A. Bosetti, E. Di Profio, G. Fiore, M. Ferrario, C. Mameli, A. Sangiorgio, S. Masnada, G.V. Zuccotti, P. Veggiotti, L. Spaccini, M. Iascone, E. Verduci, C. Cereda, D. Tonduti
Type I Alexander disease: Update and validation of the clinical evolution-based classification
2023 Y. Vaia, E. Mura, D. Tonduti
Further insights into Allan-Herndon-Dudley syndrome: characterization of two genetic variants in SLC16A2 gene
2023 L. Esposito, F. Rey, E. Maghraby, G. Zuccotti, D. Tonduti, S. Carelli, C. Cereda