TONDUTI, DAVIDE
TONDUTI, DAVIDE
Dipartimento di Scienze Biomediche e Cliniche
Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy
2026 A. Vasco, A. Meta, C. Berardo, D. Camerlengo, F. Fumagalli, D. Tonduti, I. Fiamingo, C. Montrasio, D. Postorivo, M. Rizzetto, S. Fede, N. Null, R. Bozic, F. Ferron, V. Calbi, G. Zuccotti, A. Aiuti, G. La Marca, S. Carelli, C. Cereda
Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?
2026 L. Fiori, M. Turzi, V.M. Tagi, L. Asnaghi, E. Bonaventura, D. Tonduti, L. Spaccini, L.A. Saielli, C. Montanari, F. Cairello, S. Mannarino, M. Ferrario, A. Del Longo, M. Napolitano, A. Righini, M. Semeraro, A. Venerando, M. Miceli, E. Verduci, G. Zuccotti
Neuroradiological patterns and prognostic implications in type I Alexander disease
2026 Y. Vaia, F. Arrigoni, L.B. Sira, G. Bernard, E. Bertini, O. Boespflug-Tanguy, F. Bruschi, C. Cereda, F. Eichler, A. Erbetta, S. Ferraro, M. Heidari, L. Lalli, G. Lambert, S. Libzon, D. Longo, I. Moroni, A. Nagy, F. Nicita, F. Renaldo, D. Rodriguez, G.S. Khan, A.R. Tavasoli, E. Winter, A. Zerem, C. Parazzini, D. Tonduti
Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches
2026 F. Rey, A. Casamassa, S. Di Cristofano, L. Esposito, A.A. Soriano, L. Messa, C. Berardo, M. Hazrati, I. Ferrone, M. Bonnet, F. Bruschi, Y. Vaia, M. Marano, E. Bertini, F. Nicita, D. Tonduti, G. Zuccotti, A.L. Vescovi, D. Raimondo, J. Rosati, S. Carelli, C. Cereda
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes
2026 T. Bachetti, Y. Vaia, A. Grossi, F. Rosamilia, E. Bertini, F. Nicita, D. Bellitto, F. Eichler, G. Bernard, A. Nagy, A. Zerem, M. Heidari, A.R. Tavasoli, I. Moroni, I. Ceccherini, D. Tonduti
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy
2026 T.C. Lund, K. Miettunen, Y.R.J. Jaspers, C. Bergner, J.L. Bonkowsky, F. Bruschi, J.S. Cohen, I.M.E. Dijkstra, F.S. Eichler, E.J. Mallack, G.S. Salomons, R. Thompson, D. Tonduti, K.P. Van Haren, M.M.C. Wamelink, A. Zerem, M. Engelen, S. Kemp
The impact of leukodystrophies on parents' lives
2025 L. Zampini, L. Cordolcini, L. Draghi, P. Zanchi, Y. Vaia, E. Bonaventura, D. Tonduti
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
Exploring emerging JAK inhibitors in the treatment of Aicardi–Goutières syndrome
2025 D. Politano, D. Tonduti, R. Battini, E. Fazzi, 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
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency
2025 F. Bruschi, Y. Vaia, C.E. Antonello, M. Spada, F. Porta, C. Marinaccio, C. Carducci, T. Opladen, J. Sartorelli, F.M. Zibordi, D. Ghezzi, F. Nicita, D. Tonduti
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
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
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
Consensus-based expert recommendations for diagnosis and clinical management of vanishing white matter
2025 R.J. Van Voorst, D.H. Schoenmakers, J.L. Bonkowsky, A. Vanderver, I. Krägeloh-Mann, G. Bernard, E. Bertini, A. Fatemi, P.V. Sgobbi, N.I. Wolf, S. Groeschel, D. Tonduti, C. Sevin, J.L. Orthmann-Murphy, L. Schöls, E. Salsano, B. Brais, N. Jaffe, K.W. Ter Horst, S.E. Hannema, K.G. Hayes, J. Meyburg, M. Van Heerde, A.M. Sbrocchi, R. Van Spaendonk, I. Thiffault, G.H. Hofsteenge, C. Sudmeier-Broek, C. Timmer, D. Skwirut, A. Buck, B. Hollberg, R. Chapleau, H. Dekker, S.G. Campbell, T.E.M. Abbink, P.S. Leferink, M.S. Van Der Knaap
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
Endocrine system disturbances in children with inherited metabolic diseases: a narrative review
2025 V.M. Tagi, L. Fiori, C. Montanari, D. Tonduti, M. Ferrario, M. Gambino, I.P. Greco, A. Cecchini, V. Calcaterra, G. Zuccotti, E. Verduci
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
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