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Page 1
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. Among authors: accogli a. Neurology. 2021 Mar 2;96(9):e1319-e1333. doi: 10.1212/WNL.0000000000011237. Epub 2020 Dec 4. Neurology. 2021. PMID: 33277420 Free PMC article.
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.
Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, Verrico A, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A; TUDP consortium; Nigro V, Capra V. Scala M, et al. Among authors: accogli a. Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1. Eur J Hum Genet. 2019. PMID: 30936465 Free PMC article.
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Accogli A, Severino M, Riva A, Madia F, Balagura G, Iacomino M, Carlini B, Baldassari S, Giacomini T, Croci C, Pisciotta L, Messana T, Boni A, Russo A, Bilo L, Tonziello R, Coppola A, Filla A, Mecarelli O, Casalone R, Pisani F, Falsaperla R, Marino S, Parisi P, Ferretti A, Elia M, Luchetti A, Milani D, Vanadia F, Silvestri L, Rebessi E, Parente E, Vatti G, Mancardi MM, Nobili L, Capra V, Salpietro V, Striano P, Zara F. Accogli A, et al. Seizure. 2020 Aug;80:145-152. doi: 10.1016/j.seizure.2020.05.023. Epub 2020 Jun 3. Seizure. 2020. PMID: 32570172 Free article.
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations.
Villa R, Fergnani VGC, Silipigni R, Guerneri S, Cinnante C, Guala A, Danesino C, Scola E, Conte G, Fumagalli M, Gangi S, Colombo L, Picciolini O, Ajmone PF, Accogli A, Madia F, Tassano E, Scala M, Capra V, Srour M, Spaccini L, Righini A, Greco D, Castiglia L, Romano C, Bedeschi MF. Villa R, et al. Among authors: accogli a. Eur J Paediatr Neurol. 2020 Sep;28:110-119. doi: 10.1016/j.ejpn.2020.07.002. Epub 2020 Jul 28. Eur J Paediatr Neurol. 2020. PMID: 32800423 Free article.
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
Imbrici P, Accogli A, Blunck R, Altamura C, Iacomino M, D'adamo MC, Allegri A, Pedemonte M, Brolatti N, Vari S, Cataldi M, Capra V, Gustincich S, Zara F, Desaphy JF, Fiorillo C. Imbrici P, et al. Among authors: accogli a. Biomedicines. 2021 Jan 14;9(1):75. doi: 10.3390/biomedicines9010075. Biomedicines. 2021. PMID: 33466780 Free PMC article.
134 results