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Page 1
Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis.
Masnada S, Chiara D, Giana I, Manuela F, Marco S, Andrea A, Patrizia A, Nadia BB, Valeria C, Mara C, Bernardo DB, Francesca D, Valentina G, Elisa F, Miguel FRL, Carlo F, Lucio G, Simona O, Lorenzo P, Erika R, Antonino R, Mariasavina S, Carlotta S, Pierangelo V, Anna P, Andrea R, Cecilia P. Masnada S, et al. Neuropediatrics. 2020 Aug;51(4):276-285. doi: 10.1055/s-0040-1710528. Epub 2020 Jul 3. Neuropediatrics. 2020. PMID: 32620025
3D facial morphometry in Italian patients affected by Aicardi syndrome.
Masnada S, Gibelli D, Dolci C, De Giorgis V, Cappella A, Veggiotti P, Sforza C; Italian Aicardi Study Group. Masnada S, et al. Am J Med Genet A. 2020 Oct;182(10):2325-2332. doi: 10.1002/ajmg.a.61791. Epub 2020 Aug 15. Am J Med Genet A. 2020. PMID: 32798292 Free article.
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.
Masnada S, Pichiecchio A, Formica M, Arrigoni F, Borrelli P, Accorsi P, Bonanni P, Borgatti R, Bernardina BD, Danieli A, Darra F, Deconinck N, De Giorgis V, Dulac O, Gataullina S, Giordano L, Guerrini R, La Briola F, Mastrangelo M, Montomoli M, Mortilla M, Osanni E, Parisi P, Perucca E, Pinelli L, Romaniello R, Severino M, Vigevano F, Vignoli A, Bahi-Buisson N, Cavallin M, Accogli A, Burgeois M, Capra V, Chaves-Vischer V, Chiapparini L, Colafati G, D'Arrigo S, Desguerre I, Doco-Fenzy M, d'Orsi G, Epitashvili N, Fazzi E, Ferretti A, Fiorini E, Fradin M, Fusco C, Granata T, Johannesen KM, Lebon S, Loget P, Moller RS, Montanaro D, Orcesi S, Quelin C, Rebessi E, Romeo A, Solazzi R, Spagnoli C, Uebler C, Zara F, Arzimanoglou A, Veggiotti P; Aicardi Syndrome International Study Group. Masnada S, et al. Neurology. 2021 Mar 2;96(9):e1319-e1333. doi: 10.1212/WNL.0000000000011237. Epub 2020 Dec 4. Neurology. 2021. PMID: 33277420 Free PMC article.
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings.
De Giorgis V, Varesio C, Viri M, Giordano L, La Piana R, Tonduti D, Roncarolo F, Masnada S, Pichiecchio A, Veggiotti P, Fazzi E, Orcesi S; Italian AGS Study Group. De Giorgis V, et al. Among authors: masnada s. Seizure. 2021 Mar;86:197-209. doi: 10.1016/j.seizure.2020.11.019. Epub 2020 Dec 1. Seizure. 2021. PMID: 33589296 Free article.
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: masnada s. 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
EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome.
Masnada S, Alfei E, Formica M, Previtali R, Accorsi P, Arrigoni F, Bonanni P, Borgatti R, Darra F, Fusco C, De Giorgis V, Giordano L, La Briola F, Orcesi S, Osanni E, Parazzini C, Pinelli L, Rebessi E, Romaniello R, Romeo A, Spagnoli C, Uebler C, Varesio C, Viri M, Zucca C, Pichiecchio A, Veggiotti P. Masnada S, et al. Clin Neurophysiol. 2022 Oct;142:112-124. doi: 10.1016/j.clinph.2022.07.496. Epub 2022 Aug 3. Clin Neurophysiol. 2022. PMID: 36030575
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Piccoli C, Bronner N, Gavazzi F, Dubbs H, De Simone M, De Giorgis V, Orcesi S, Fazzi E, Galli J, Masnada S, Tonduti D, Varesio C, Vanderver A, Vossough A, Adang L. Piccoli C, et al. Among authors: masnada s. Pediatr Neurol. 2021 Feb;115:1-6. doi: 10.1016/j.pediatrneurol.2020.10.012. Epub 2020 Nov 2. Pediatr Neurol. 2021. PMID: 33307271 Free PMC article.
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutières Syndrome.
Garau J, Masnada S, Dragoni F, Sproviero D, Fogolari F, Gagliardi S, Izzo G, Varesio C, Orcesi S, Veggiotti P, Zuccotti GV, Pansarasa O, Tonduti D, Cereda C. Garau J, et al. Among authors: masnada s. Front Immunol. 2021 Apr 26;12:672952. doi: 10.3389/fimmu.2021.672952. eCollection 2021. Front Immunol. 2021. PMID: 33981319 Free PMC article.
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
Mura E, Nicita F, Masnada S, Battini R, Ticci C, Montomoli M, Berardinelli A, Pantaleoni C, Ardissone A, Foiadelli T, Tartara E, Salsano E, Veggiotti P, Ceccherini I, Moroni I, Bertini E, Tonduti D. Mura E, et al. Among authors: masnada s. Mol Genet Metab. 2021 Dec;134(4):353-358. doi: 10.1016/j.ymgme.2021.11.009. Epub 2021 Nov 24. Mol Genet Metab. 2021. PMID: 34865968
41 results