TONDUTI, DAVIDE
TONDUTI, DAVIDE
Dipartimento di Scienze Biomediche e Cliniche
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
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
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
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
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
The expanding knowledge of epilepsy in leukodystrophies
2024 Y. Vaia, E. Minacapilli, S. Masnada, P. Veggiotti, D. Tonduti, M.A.M. Lodi
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
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
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
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
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
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
New-born screening and vitamin B12 deficiency: model of management and description of a case history
2023 M. Agostinelli, C. Montanari, L. Fiori, I. De Grassi, C.G. Cereda, D. Tonduti, A. Bosetti, E. Pendezza, M. Tosi, A. Righini, G.V. Zuccotti, E. Verduci
I deficit di vitamina B12 di origine materna nel neonato: sfide attuali e future = Neonatal cobalamin deficiency secondary to maternal causes: today and future challenges
2023 C. Montanari, L. Fiori, D. Tonduti, E. Bonaventura, I. Degrassi, M. Gambino, C. Sertori, M. Tosi, A. Bosetti, L. Alberti, S. Lucchi, C. Cereda, G. Zuccotti, E. Verduci
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy
2023 S. Masnada, R. Previtali, P. Erba, E. Beretta, A. Camporesi, L. Chiapparini, C. Doneda, M. Iascone, M.U.A. Sartorio, L. Spaccini, P. Veggiotti, M. Osio, D. Tonduti, I. Moroni
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
2023 A. Accogli, S. Lin, M. Severino, S. Kim, K. Huang, C. Rocca, M. Landsverk, M. Zaki, A. Al-Maawali, V.M. Srinivasan, K. Al-Thihli, G.B. Schaefer, M. Davis, D. Tonduti, C. Doneda, L.M. Marten, C. Mühlhausen, M. Gomez, E. Lamantea, R. Mena, M. Nizon, V. Procaccio, A. Begtrup, A. Telegrafi, H. Cui, H.L. Schulz, J. Mohr, S. Biskup, M.A. Loos, H.V. Aráoz, V. Salpietro, L.D. Keppen, M. Chitre, C. Petree, L. Raymond, J. Vogt, L.B. Swayer, A.A. Basinger, S.V. Pedersen, T.S. Pearson, D.K. Grange, L. Lingapp, P. Mcdunnah, R. Horvath, B. Cogne, B. Isidor, A. Hahn, K. Gripp, S.M. Jafarnejad, E. Ostergaard, C.E. Prada, D. Ghezzi, V.K. Gowda, R.W. Taylor, N. Sonenberg, H. Houlden, M. Sissler, G.K. Varshney, R. Maroofian
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
Redox Imbalance in Neurological Disorders in Adults and Children
2023 F. Rey, C. Berardo, E. Maghraby, A. Mauri, L. Messa, L. Esposito, G. Casili, S. Ottolenghi, E. Bonaventura, S. Cuzzocrea, G. Zuccotti, D. Tonduti, E. Esposito, I. Paterniti, C. Cereda, S. Carelli
Deficit neonatale di vitamina b12 secondario a carenza materna: focus su pattern alimentari e intake nutrizionali in gravidanza
2023 M. Tosi, C. Montanari, L. Fiori, M. Fioravanti, A. Bosetti, E. Bonaventura, D. Tonduti, L. Alberti, C. Cereda, G. Zuccotti, E. Verduci