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Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.
Tonduti D, Izzo G, D'Arrigo S, Riva D, Moroni I, Zorzi G, Cavallera V, Pichiecchio A, Uggetti C, Veggiotti P, Orcesi S, Chiapparini L, Parazzini C. Tonduti D, et al. Among authors: izzo g. Mol Genet Metab. 2019 Apr;126(4):489-494. doi: 10.1016/j.ymgme.2019.02.006. Epub 2019 Feb 25. Mol Genet Metab. 2019. PMID: 30826161
Ruxolitinib in Aicardi-Goutières syndrome.
Mura E, Masnada S, Antonello C, Parazzini C, Izzo G, Garau J, Sproviero D, Cereda C, Orcesi S, Veggiotti P, Zuccotti G, Dilillo D, Penagini F, Tonduti D. Mura E, et al. Among authors: izzo g. Metab Brain Dis. 2021 Jun;36(5):859-863. doi: 10.1007/s11011-021-00716-5. Epub 2021 Mar 15. Metab Brain Dis. 2021. PMID: 33721182
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.
Bonaventura E, Alberti L, Lucchi S, Cappelletti L, Fazzone S, Cattaneo E, Bellini M, Izzo G, Parazzini C, Bosetti A, Di Profio E, Fiore G, Ferrario M, Mameli C, Sangiorgio A, Masnada S, Zuccotti GV, Veggiotti P, Spaccini L, Iascone M, Verduci E, Cereda C, Tonduti D; XALD-NBS Study Group. Bonaventura E, et al. Among authors: izzo g. Front Neurol. 2024 Mar 6;15:1376447. doi: 10.3389/fneur.2024.1376447. eCollection 2024. Front Neurol. 2024. PMID: 38510379 Free PMC article.
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: izzo g. Neurogenetics. 2021 Mar;22(1):27-32. doi: 10.1007/s10048-020-00628-z. Epub 2020 Sep 8. Neurogenetics. 2021. PMID: 32901329
L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Accogli A, Goergen S, Izzo G, Mankad K, Krajden Haratz K, Parazzini C, Fahey M, Menzies L, Baptista J, Carpineta L, Tortora D, Fulcheri E, Gaetano Vellone V, Paladini D, Spaccini L, Toto V, Trayers C, Ben Sira L, Reches A, Malinger G, Salpietro V, De Marco P, Srour M, Zara F, Capra V, Rossi A, Severino M. Accogli A, et al. Among authors: izzo g. Ann Clin Transl Neurol. 2021 Oct;8(10):2004-2012. doi: 10.1002/acn3.51448. Epub 2021 Sep 12. Ann Clin Transl Neurol. 2021. PMID: 34510796 Free PMC article.
196 results