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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: mortilla m. Neurology. 2021 Mar 2;96(9):e1319-e1333. doi: 10.1212/WNL.0000000000011237. Epub 2020 Dec 4. Neurology. 2021. PMID: 33277420 Free PMC article.
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.
Galli J, Gavazzi F, De Simone M, Giliani S, Garau J, Valente M, Vairo D, Cattalini M, Mortilla M, Andreoli L, Badolato R, Bianchi M, Carabellese N, Cereda C, Ferraro R, Facchetti F, Fredi M, Gualdi G, Lorenzi L, Meini A, Orcesi S, Tincani A, Zanola A, Rice G, Fazzi E; AGS study group. Galli J, et al. Among authors: mortilla m. Medicine (Baltimore). 2018 Dec;97(52):e13893. doi: 10.1097/MD.0000000000013893. Medicine (Baltimore). 2018. PMID: 30593198 Free PMC article.
Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis.
Sieni E, Barba C, Mortilla M, Savelli S, Grisotto L, Di Giacomo G, Romano K, Fonda C, Biggeri A, Guerrini R, Aricò M. Sieni E, et al. Among authors: mortilla m. PLoS One. 2015 Jul 15;10(7):e0131635. doi: 10.1371/journal.pone.0131635. eCollection 2015. PLoS One. 2015. PMID: 26176859 Free PMC article.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A, La Barbera A, Scagnet M, Pagliazzi A, Traficante G, Pantaleo M, Tiberi L, Vergani D, Kurtas NE, Guarducci S, Bargiacchi S, Forzano G, Artuso R, Palazzo V, Kura A, Giordano F, di Feo D, Mortilla M, De Filippi C, Mattei G, Garavelli L, Giusti B, Genitori L, Zuffardi O, Giglio S. Provenzano A, et al. Among authors: mortilla m. Hum Genet. 2021 Apr;140(4):625-647. doi: 10.1007/s00439-020-02231-6. Epub 2020 Dec 18. Hum Genet. 2021. PMID: 33337535 Free PMC article.
Intracerebral atypical presentation of echinococcosis in a child.
Sardi I, Sanzo M, Buccoliero AM, Mortilla M, de Martino M, Genitori L. Sardi I, et al. Among authors: mortilla m. Pediatr Neurosurg. 2008;44(4):350-2. doi: 10.1159/000138376. Epub 2008 Jun 13. Pediatr Neurosurg. 2008. PMID: 18552521 Review. No abstract available.
71 results