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Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
Santoro C, Mirone G, Zanobio M, Ranucci G, D'Amico A, Cicala D, Iascone M, Bernardo P, Piccolo V, Ronchi A, Limongelli G, Carotenuto M, Nigro V, Cinalli G, Piluso G. Santoro C, et al. Among authors: zanobio m. Int J Mol Sci. 2022 Aug 11;23(16):8952. doi: 10.3390/ijms23168952. Int J Mol Sci. 2022. PMID: 36012218 Free PMC article. Review.
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy.
Pasquali D, Torella A, Grandone A, Luongo C, Morleo M, Peduto C, di Fraia R, Selvaggio LD, Allosso F, Accardo G, Zanobio MT, Maitz S, Mariani M, Selicorni A, Banfi S, Nigro V; TUDP Study Group. Pasquali D, et al. Among authors: zanobio mt. Am J Med Genet A. 2023 Mar;191(3):823-830. doi: 10.1002/ajmg.a.63061. Epub 2022 Nov 24. Am J Med Genet A. 2023. PMID: 36420948
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Torella A, Ricca I, Piluso G, Galatolo D, De Michele G, Zanobio M, Trovato R, De Michele G, Zeuli R, Pane C, Cocozza S, Saccà F, Santorelli FM, Nigro V, Filla A. Torella A, et al. Among authors: zanobio m. J Neurol. 2023 Oct;270(10):5057-5063. doi: 10.1007/s00415-023-11816-w. Epub 2023 Jul 7. J Neurol. 2023. PMID: 37418012 Free PMC article.
22 results