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72 results

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Page 1
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. Fasano G, et al. Among authors: macchiaiolo m. Nat Commun. 2022 Nov 11;13(1):6841. doi: 10.1038/s41467-022-34354-x. Nat Commun. 2022. PMID: 36369169 Free PMC article.
Homozygous familial hypercholesterolaemia.
Macchiaiolo M, Gagliardi MG, Toscano A, Guccione P, Bartuli A. Macchiaiolo M, et al. Lancet. 2012 Apr 7;379(9823):1330. doi: 10.1016/S0140-6736(11)61476-1. Epub 2012 Jan 27. Lancet. 2012. PMID: 22285056 No abstract available.
Acute rheumatic fever with chorea.
Buonuomo PS, Macchiaiolo M, Toscano A, De Benedetti F, Villani A, Bartuli A. Buonuomo PS, et al. Among authors: macchiaiolo m. Arch Dis Child. 2013 Mar;98(3):203. doi: 10.1136/archdischild-2012-302732. Epub 2012 Nov 24. Arch Dis Child. 2013. PMID: 23178398 No abstract available.
An unusual presentation of tuberous sclerosis.
Macchiaiolo M, Buonuomo PS, Longo D, Valentini D, Bartuli A. Macchiaiolo M, et al. Arch Dis Child. 2013 Mar;98(3):214-5. doi: 10.1136/archdischild-2012-302885. Epub 2013 Jan 12. Arch Dis Child. 2013. PMID: 23313916 No abstract available.
Persistent neck pain in a girl: Klippel-Feil syndrome.
Buonuomo PS, Macchiaiolo M, Colafati GS, Rana I, Tomà P, Gonfiantini MV, Bartuli A. Buonuomo PS, et al. Among authors: macchiaiolo m. Arch Dis Child. 2014 Mar;99(3):290-1. doi: 10.1136/archdischild-2013-305203. Epub 2013 Nov 28. Arch Dis Child. 2014. PMID: 24288136 No abstract available.
Corneal arcus as first sign of familial hypercholesterolemia.
Macchiaiolo M, Buonuomo PS, Valente P, Rana I, Lepri FR, Gonfiantini MV, Bartuli A. Macchiaiolo M, et al. J Pediatr. 2014 Mar;164(3):670. doi: 10.1016/j.jpeds.2013.10.045. Epub 2013 Dec 4. J Pediatr. 2014. PMID: 24314439 No abstract available.
72 results