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Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle CM, Wu X, Valenzano KJ, Benjamin R, Donati MA, Guerrini R, Genuardi M, Morrone A. Ferri L, et al. Among authors: antuzzi d. Clin Genet. 2012 Mar;81(3):224-33. doi: 10.1111/j.1399-0004.2011.01689.x. Epub 2011 May 25. Clin Genet. 2012. PMID: 21517827
Functional studies of new GLA gene mutations leading to conformational Fabry disease.
Filoni C, Caciotti A, Carraresi L, Cavicchi C, Parini R, Antuzzi D, Zampetti A, Feriozzi S, Poisetti P, Garman SC, Guerrini R, Zammarchi E, Donati MA, Morrone A. Filoni C, et al. Among authors: antuzzi d. Biochim Biophys Acta. 2010 Feb;1802(2):247-52. doi: 10.1016/j.bbadis.2009.11.003. Epub 2009 Nov 24. Biochim Biophys Acta. 2010. PMID: 19941952 Free PMC article.
[Fabry disease in Italy: first epidemiologic and collaborative study].
Ricci R, Castorina M, Di Lillo M, Antuzzi D, Frustaci A, Parini R, Menni F, Furlan F, Burlina A, Burlina A, Catuogno S, Gabrielli O, Burattini I, Borsini W, Buchner S, Ferriozzi S, Spisni C, De Vito R, Di Rocco M, Aricò M, Pistone G, Bongiorno AM, Morrone A, Cavicchi C, Zammarchi E. Ricci R, et al. Among authors: antuzzi d. Ann Ital Med Int. 2004 Oct-Dec;19(4):269-75. Ann Ital Med Int. 2004. PMID: 15678707 Italian.
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Ferri L, Malesci D, Fioravanti A, Bagordo G, Filippini A, Ficcadenti A, Manna R, Antuzzi D, Verrecchia E, Donati I, Mignani R, Cavicchi C, Guerrini R, Morrone A. Ferri L, et al. Among authors: antuzzi d. Clin Chim Acta. 2018 Jun;481:25-33. doi: 10.1016/j.cca.2018.02.021. Epub 2018 Feb 21. Clin Chim Acta. 2018. PMID: 29476735 Free article.
Morquio B disease: From pathophysiology towards diagnosis.
Caciotti A, Cellai L, Tonin R, Mei D, Procopio E, Di Rocco M, Andaloro A, Antuzzi D, Rampazzo A, Rigoldi M, Forni G, la Marca G, Guerrini R, Morrone A. Caciotti A, et al. Among authors: antuzzi d. Mol Genet Metab. 2021 Mar;132(3):180-188. doi: 10.1016/j.ymgme.2021.01.008. Epub 2021 Feb 1. Mol Genet Metab. 2021. PMID: 33558080
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A. Caciotti A, et al. Among authors: antuzzi d. Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751. Hum Mutat. 2015. PMID: 25545067
Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.
Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M, Morrone A, Cardinali G, Kovacs D, Aspite N, Linder D, Parini R, Feliciani C; Interdisciplinary Study Group on Fabry Disease (ISGF). Zampetti A, et al. Among authors: antuzzi d. Br J Dermatol. 2012 Apr;166(4):712-20. doi: 10.1111/j.1365-2133.2012.10742.x. Br J Dermatol. 2012. PMID: 22452439 Review.
47 results