TONDUTI, DAVIDE
TONDUTI, DAVIDE
Dipartimento di Scienze Biomediche e Cliniche
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
2022-05-01 K. Cetin Gedik, L. Lamot, M. Romano, E. Demirkaya, D. Piskin, S. Torreggiani, L.A. Adang, T. Armangue, K. Barchus, D.R. Cordova, Y.J. Crow, R.C. Dale, K.L. Durrant, D. Eleftheriou, E.M. Fazzi, M. Gattorno, F. Gavazzi, E.P. Hanson, M.A. Lee-Kirsch, G.A. Montealegre Sanchez, B. Neven, S. Orcesi, S. Ozen, M.C. Poli, E. Schumacher, D. Tonduti, K. Uss, D. Aletaha, B.M. Feldman, A. Vanderver, P.A. Brogan, R. Goldbach-Mansky
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome
2021-04-26 J. Garau, S. Masnada, F. Dragoni, D. Sproviero, F. Fogolari, S. Gagliardi, G. Izzo, C. Varesio, S. Orcesi, P. Veggiotti, G.V. Zuccotti, O. Pansarasa, D. Tonduti, C. Cereda
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders
2015-11-01 D. Tonduti, G. Zorzi, D. Ghezzi, F. Zibordi, B. Garavaglia, N. Nardocci
Clinical and genetical heterogeneity in a cohort of pediatric patients affected with mitochondrial disorders
2011-05-01 M. Ranieri, D. Ronchi, S. Orcesi, V. Spartà, A. Cosi, A. Bordoni, V. Lucchini, F. Fortunato, E. Fassone, D. Tonduti, G. Rulfi, M. Rizzuti, M. Ripolone, M. Sciacco, M. Moggio, S. Corti, S. Savasta, A. Berardinelli, P. Veggiotti, G.P. Comi
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation :aA case report
2011-01-01 D. Ronchi, A. Cosi, D. Tonduti, S. Orcesi, A. Bordoni, F. Fortunato, M. Rizzuti, M. Sciacco, M. Collotta, S. Cagdas, G. Capovilla, M. Moggio, A. Berardinelli, P. Veggiotti, G.P. Comi
CNS involvement in a cohort of pediatric patients affected with mitochondrial disorders caused by heterogeneous biochemical and genetic defects
2011-01-01 D. Ronchi, S. Orcesi, V. Spartà, A. Cosi, A. Bordoni, V. Lucchini, F. Fortunato, E. Fassone, D. Tonduti, G. Rulfi, M. Ranieri, M. Rizzuti, M. Ripolone, M. Sciacco, M. Moggio, S. Corti, S. Savata, A. Berardinelli, P. Veggiotti, G.P. Comi
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
2018-03-12 A. Catania, A. Ardissone, D. Verrigni, A. Legati, A. Reyes, E. Lamantea, D. Diodato, D. Tonduti, V. Imperatore, A.M. Pinto, I. Moroni, E. Bertini, A. Robinson, R. Carrozzo, M. Zeviani, D. Ghezzi
Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al
2022-05-01 A. Leidi, R. Previtali, C. Parazzini, F. Raviglione, S. Carelli, M.I. Mendes, G.S. Salomons, M. Iascone, D. Tonduti
Cortical malformations and COL4A1 mutation: Three new cases
2019-01-01 G. Vitale, A. Pichiecchio, F. Ormitti, D. Tonduti, A. Asaro, L. Farina, B. Piccolo, A. Percesepe, S. Bastianello, S. Orcesi, P. Accorsi, D. Battaglia, C. Cereda, P. Martelli, M. Mine, L. Pinelli, T. Tartaglione, T. Ghi, E. Parrini, O. Zuffardi
The epileptology of Aicardi-Goutières syndrome : electro-clinical-radiological findings
2020-12-01 V. De Giorgis, C. Varesio, M. Viri, L. Giordano, R. La Piana, D. Tonduti, F. Roncarolo, S. Masnada, A. Pichiecchio, P. Veggiotti, E. Fazzi, S. Orcesi
Impact of COVID-19 lockdown in children with neurological disorders in Italy
2021-04-01 S.M. Bova, M. Basso, M.F. Bianchi, L. Savare, G. Ferrara, E. Mura, M.G. Redaelli, I. Olivieri, P. Veggiotti, E. Alfei, S. Olivotto, D. Tonduti, S. Masnada, I. Fiocchi, B. Scelsa, G. Corrao, B. Bartoli, B. Bettinardi, A.D. Brun, I. De Giorgi, V. Di Giusto, M. Doz, C. Fedeli, S.D. Sudano, M. Zanette
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
2018-04-04 A. Ardissone, D. Tonduti, A. Legati, E. Lamantea, R. Barone, I. Dorboz, O. Boespflug-Tanguy, G. Nebbia, M. Maggioni, B. Garavaglia, I. Moroni, L. Farina, A. Pichiecchio, S. Orcesi, L. Chiapparini, D. Ghezzi
MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features
2013-06-01 D. Tonduti, A. Vanderver, A. Berardinelli, J.L. Schmidt, C.D. Collins, F. Novara, A.D. Genni, A. Mita, F. Triulzi, J.E. Brunstrom-Hernandez, O. Zuffardi, U. Balottin, S. Orcesi
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome
2022-01-01 S. Masnada, C. Sarret, C.E. Antonello, A. Fadilah, H. Krude, E. Mura, S. Mordekar, F. Nicita, S. Olivotto, S. Orcesi, F. Porta, G. Remerand, B. Siri, N. Wilpert, P. Amir-Yazdani, E. Bertini, M. Schuelke, G. Bernard, O. Boespflug-Tanguy, D. Tonduti
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child
2022-04-01 M.C. Faraguna, F. Musto, V. Crescitelli, M. Iascone, L. Spaccini, D. Tonduti, T. Fedeli, G. Kullmann, F. Canonico, A. Cattoni, F. Dell'Acqua, C. Rizzari, S. Gasperini
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers
2013-01-01 D. Tonduti, A. Pichiecchio, N. Wolf, G. Ariaudo, M. van der Knaap, S. Bastianello, U. Balottin, S. Orcesi
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency
2020-07-29 S. Masnada, C. Parazzini, P. Bini, M. Barbarini, L. Alberti, M. Valente, L. Chiapparini, A. De Silvestri, C. Doneda, M. Iascone, L.A. Saielli, C. Cereda, P. Veggiotti, C. Corbetta, D. Tonduti
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum
2021-01-01 S. Masnada, D. Martinelli, M. Correa-Vela, E. Agolini, H. Baide-Mairena, A. Marcé-Grau, C. Parazzini, P. Veggiotti, B. Perez-Duenas, D. Tonduti
Ruxolitinib in Aicardi-Goutières syndrome
2021-01-01 E. Mura, S. Masnada, C. Antonello, C. Parazzini, G. Izzo, J. Garau, D. Sproviero, C. Cereda, S. Orcesi, P. Veggiotti, G. Zuccotti, D. Dilillo, F. Penagini, D. Tonduti
Spinal cord calcification in an early-onset progressive leukoencephalopathy
2011-07-01 S. Orcesi, R. La Piana, C. Uggetti, D. Tonduti, A. Pichiecchio, M. Pasin, G. Viselner, G.P. Comi, R. Del Bo, D. Ronchi, S. Bastianello, U. Balottin