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Page 1
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
Peduto C, Cappuccio G, Zeuli R, Zanobio M, Torella A, Alkuraya FS, Joss S, Daolio C, Spinelli AM, Zampieri S; TUDP Study Group; Nigro V, Brunetti-Pierri N. Peduto C, et al. Among authors: zanobio m. Am J Med Genet A. 2024 Jun 26:e63713. doi: 10.1002/ajmg.a.63713. Online ahead of print. Am J Med Genet A. 2024. PMID: 38924631
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Harzallah I, Touraine R, Tajsharghi H, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, Brunetti-Pierri N, Omrani A, Hentschel J, Lemke JR, Sticht H, Abou Jamra R, Brown AEX, Maroofian R, Platzer K. Rosenhahn E, et al. Among authors: zanobio m. Am J Hum Genet. 2022 Aug 4;109(8):1421-1435. doi: 10.1016/j.ajhg.2022.06.008. Epub 2022 Jul 12. Am J Hum Genet. 2022. PMID: 35830857 Free PMC article.
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.
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