TONDUTI, DAVIDE
TONDUTI, DAVIDE
Dipartimento di Scienze Biomediche e Cliniche
First-tier versus last-tier trio whole-genome sequencing for the diagnosis of pediatric-onset rare diseases
2025 C. Lucca, E. Rosina, L. Pezzani, D. Piazzolla, L. Spaccini, A. Scatigno, S. Gasperini, L. Pezzoli, A. Cereda, D. Milani, E. Cattaneo, U. Cavallari, M. Frigeni, D. Marchetti, C. Daolio, L. Giordano, M. Bellini, L. Goisis, C. Mongodi, D. Tonduti, A. Pilotta, G. Cazzaniga, F. Furlan, M.F. Bedeschi, G. Mangili, E. Bonanomi, M. Iascone
Comprehensive genotype-phenotype analysis in POLR3-related disorders
2025 M.A. Michell-Robinson, S. Perrier, S. Gauthier, A. Derksen, Q. Sabbagh, M. Girbig, A.D. Misiaszek, A.M. Pizzino, D.L. Renaud, D. De Assis Pereira, P. Okuda, L.M. Karoleska, S. Keller, K. Chong, L. Gauquelin, B. Brais, B. Leube, T. Grider, M.E. Shy, R. Schüle, M. Minnerop, E. Bertini, F. Nicita, D. Tonduti, C.W. Müller, A. Vanderver, N.I. Wolf, G. Bernard
Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity
2025 C. Varesio, D. Politano, L. Adang, E. Ballante, R. Battini, E. Bertini, R. Borgatti, V. De Giorgis, A. Del Boca, F. Dragoni, E. Fazzi, J. Galli, J. Garau, F. Gavazzi, A. Gardani, R. La Piana, I. Moroni, F. Nicita, A. Pichiecchio, A. Pini, F. Ricci, S. Sartori, D. Tonduti, A. Vanderver, S. Orcesi
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
2025 S. Groeneweg, F.S. Van Geest, M. Martin, M. Dias, J. Frazer, C. Medina-Gomez, R.B.T.M. Sterenborg, H. Wang, A. Dolcetta-Capuzzo, L.J. De Rooij, A. Teumer, A. Abaci, E.L.T. Van Den Akker, G.P. Ambegaonkar, C.M. Armour, I. Bacos, P. Bakhtiani, D. Barca, A.J. Bauer, S.A.A. Van Den Berg, A. Van Den Berge, E. Bertini, I.M. Van Beynum, N. Brunetti-Pierri, D. Brunner, M. Cappa, G. Cappuccio, B. Castellotti, C. Castiglioni, K. Chatterjee, A. Chesover, P. Christian, J. Coenen-van der Spek, I.F.M. De Coo, R. Coutant, D. Craiu, P. Crock, C. Degoede, K. Demir, C. Dewey, A. Dica, P. Dimitri, M.H.G. Dremmen, R. Dubey, A. Enderli, J. Fairchild, J. Gallichan, L. Garibaldi, B. George, E.F. Gevers, E. Greenup, A. Hackenberg, Z. Halasz, B. Heinrich, A.C. Hurst, T. Huynh, A.R. Isaza, A. Klosowska, M.M. Van Der Knoop, D. Konrad, D.A. Koolen, H. Krude, A. Kulkarni, A. Laemmle, S.H. Lafranchi, A. Lawson-Yuen, J. Lebl, S. Leeuwenburgh, M. Linder-Lucht, A. Lopez Marti, C.F. Lorea, C.M. Lourenco, R.J. Lunsing, G. Lyons, J.K. Malikova, E.E. Mancilla, K.L. Mccormick, A. Mcgowan, V. Mericq, F.M. Lora, C. Moran, K.E. Muller, L.E. Nicol, I. Oliver-Petit, L. Paone, P.G. Paul, M. Polak, F. Porta, F.O. Poswar, C. Reinauer, K. Rozenkova, R. Seckold, T. Seven Menevse, P. Simm, A. Simon, Y. Singh, M. Spada, M.A.M. Stals, M.T. Stegenga, A. Stoupa, G.M. Subramanian, L. Szeifert, D. Tonduti, S. Turan, J. Vanderniet, A. Van Der Walt, J.-. Wemeau, A.-. Van Wermeskerken, J. Wierzba, M.-.Y. De Wit, N.I. Wolf, M. Wurm, F. Zibordi, A. Zung, N. Zwaveling-Soonawala, F. Rivadeneira, M.E. Meima, D.S. Marks, J.P. Nicola, C.-. Chen, M. Medici, W.E. Visser
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management
2025 D. Tambala, R. Vassar, J. Snow, S. Balestrini, A. Bersano, S. Guey, E. Bonaventura, S. Signorini, S. Sartori, E. Bertini, D. Tonduti, C. Parazzini, M. Macchiaiolo, M.F. Pelizza, A. Pichiecchio, L. Massella, T. Coste, S. Orcesi, D. Politano, G. Bacci, E. Marziali, H. Dollfus, A. Mandelli, M. Chinali, E. Plaisier, P. Simioni, R. Colombatti, R. Guerrini, E. Tournier-Lasserve, D.B. Gould, P.L. Musolino
Exploring emerging JAK inhibitors in the treatment of Aicardi–Goutières syndrome
2025 D. Politano, D. Tonduti, R. Battini, E. Fazzi, S. Orcesi
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803
2025 E. Sjøstrøm, D. Studniarczyk, X. Dou, R.S. Dahl, V. Cruz, H. Wang, S. Mercier, W. Deb, T. Besnard, J. Friedman, M. Essid, S. Karoui, L.B. Jemaa, T. Benyounes, G. Lesca, D. Tonduti, M. Iascone, S. Orcesi, M. Fradin, C. Dubourg, S. Napuri, S.G. Cull-Candy, I.D. Coombs, M. Farrant, A. Bayat
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
2025 F. Gavazzi, B. Charsar, E. Hamilton, J.A. Erler, V. Patel, S. Woidill, A. Sevagamoorthy, G. Helman, J. Schmidt, A. Pizzino, K. Muirhead, A. Takanohashi, J.L. Bonkowsky, K. Meyerhoffer, C. Simons, H. Doi, M. Satoko, N. Matsumoto, M.R. Delgado, M. Sanchez-Castillo, J. Wang, D.R. De Carvalho, I. Tournev, T. Chamova, A. Jordanova, N.J. Clegg, F. Nicita, E. Bertini, M. Teng, D. Williams, D. Tonduti, H. Houlden, M. Stellingwerff, E. Wassmer, A. Garcia-Cazorla, G. Bernard, A. Mirchi, H. Toutounchi, N.I. Wolf, M.S. Van Der Knaap, J. Shults, L.A. Adang, A.L. Vanderver
The impact of leukodystrophies on parents' lives
2025 L. Zampini, L. Cordolcini, L. Draghi, P. Zanchi, Y. Vaia, E. Bonaventura, D. Tonduti
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study
2025 E. Bonaventura, F. Bruschi, L. Alberti, C. Antonello, F. Arrigoni, M. Balestriero, B. Borsani, L. Cappelletti, E. Cattaneo, M. Ferrario, G. Fiore, M. Iascone, G. Izzo, S. Lucchi, C. Parazzini, M. Perrone Donnorso, L. Spaccini, Y. Vaia, P. Veggiotti, E. Verduci, G. Zuccotti, C. Cereda, D. Tonduti, X. Study Group
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
Nucleotide Excision Repair (NER) Disorders as differential diagnosis in isolated hypomyelination
2024 Y. Vaia, F. Gavazzi, A. Vanderver, 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
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
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
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
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
Brainstem Chipmunk sign: a diagnostic imaging clue across all subtypes of Alexander Diseased
2024 T. Armangue, M.T. Whitehead, D. Tonduti, L. Farina, A.R. Tavasoli, A. Vossough, M.L. Bennett, Y. Vaia, G. Bernard, E. Salsano, S. Mercimek-Andrews, A. Waldman, A. Vanderver
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
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