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Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
Masnada S, Parazzini C, Bini P, Barbarini M, Alberti L, Valente M, Chiapparini L, De Silvestri A, Doneda C, Iascone M, Saielli LA, Cereda C, Veggiotti P, Corbetta C, Tonduti D. Masnada S, et al. Among authors: doneda c. Eur J Paediatr Neurol. 2020 Sep;28:151-158. doi: 10.1016/j.ejpn.2020.07.007. Epub 2020 Jul 29. Eur J Paediatr Neurol. 2020. PMID: 32800686
Neurological Involvement in Multisystem Inflammatory Syndrome in Children: Clinical, Electroencephalographic and Magnetic Resonance Imaging Peculiarities and Therapeutic Implications. An Italian Single-Center Experience.
Bova SM, Serafini L, Capetti P, Dallapiccola AR, Doneda C, Gadda A, Lonoce L, Vittorini A, Mannarino S, Veggiotti P; Milan MIS-C Study Group. Bova SM, et al. Among authors: doneda c. Front Pediatr. 2022 Aug 12;10:932208. doi: 10.3389/fped.2022.932208. eCollection 2022. Front Pediatr. 2022. PMID: 36034550 Free PMC article.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: doneda c. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free article.
Fetal MRI features related to the Chiari malformations.
Righini A, Parazzini C, Doneda C, Arrigoni F, Rustico M, Re TJ, Triulzi F. Righini A, et al. Among authors: doneda c. Neurol Sci. 2011 Dec;32 Suppl 3:S279-81. doi: 10.1007/s10072-011-0694-1. Neurol Sci. 2011. PMID: 22002071
Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents.
Vantaggiato C, Cantoni O, Guidarelli A, Romaniello R, Citterio A, Arrigoni F, Doneda C, Castelli M, Airoldi G, Bresolin N, Borgatti R, Bassi MT. Vantaggiato C, et al. Among authors: doneda c. Brain Dev. 2014 Sep;36(8):682-9. doi: 10.1016/j.braindev.2013.10.003. Epub 2013 Oct 31. Brain Dev. 2014. PMID: 24183476
Cerebellar dysplasia related to PIK3CA mutation: a three-case series.
Di Stasi M, Izzo G, Cattaneo E, Baraldini V, Doneda C, Righini A, Graziani D, Toto V, Parazzini C. Di Stasi M, et al. Among authors: doneda c. Neurogenetics. 2021 Mar;22(1):27-32. doi: 10.1007/s10048-020-00628-z. Epub 2020 Sep 8. Neurogenetics. 2021. PMID: 32901329
39 results