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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.
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
Brain-injured Survivors of Monochorionic Twin Pregnancies Complicated by Single Intrauterine Death: MR Findings in a Multicenter Study.
Conte G, Righini A, Griffiths PD, Rustico M, Lanna M, Mackie FL, Pinelli L, Prefumo F, Persico N, Igra MS, Parazzini C, Doneda C, Fichera A, Ambrosi C, Kilby M, Severino M, Triulzi F, Rossi A, Skipper N. Conte G, et al. Among authors: doneda c. Radiology. 2018 Aug;288(2):582-590. doi: 10.1148/radiol.2018171267. Epub 2018 Apr 24. Radiology. 2018. PMID: 29688161
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
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.
39 results