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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. 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
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.
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.
Impact of COVID-19 lockdown in children with neurological disorders in Italy.
Bova SM, Basso M, Bianchi MF, Savaré L, Ferrara G, Mura E, Redaelli MG, Olivieri I, Veggiotti P; Milan COVID-19 and Child Neurology Study Group. Bova SM, et al. Disabil Health J. 2021 Apr;14(2):101053. doi: 10.1016/j.dhjo.2020.101053. Epub 2020 Dec 16. Disabil Health J. 2021. PMID: 33358228 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
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.
41 results