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c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.
Riillo C, Bonapace G, Moricca MT, Sestito S, Salatino A, Concolino D. Riillo C, et al. Among authors: moricca mt. Mol Genet Metab. 2023 Nov;140(3):107700. doi: 10.1016/j.ymgme.2023.107700. Epub 2023 Sep 14. Mol Genet Metab. 2023. PMID: 37774431 Free article.
Genetics and Gene Therapy in Hunter Disease.
Sestito S, Falvo F, Scozzafava C, Apa R, Pensabene L, Bonapace G, Moricca MT, Concolino D. Sestito S, et al. Among authors: moricca mt. Curr Gene Ther. 2018;18(2):90-95. doi: 10.2174/1566523218666180404155759. Curr Gene Ther. 2018. PMID: 29618310 Review.
Norrbottnian clinical variant of Gaucher disease in Southern Italy.
Sestito S, Filocamo M, Ceravolo F, Falvo F, Grisolia M, Moricca MT, Cantaffa R, Grossi S, Strisciuglio P, Concolino D. Sestito S, et al. Among authors: moricca mt. J Hum Genet. 2017 Apr;62(4):507-511. doi: 10.1038/jhg.2016.158. Epub 2016 Dec 22. J Hum Genet. 2017. PMID: 28003644
Centric fission of chromosome 9 in a boy with trisomy 9p.
Concolino D, Cinti R, Moricca M, Andria G, Strisciuglio P. Concolino D, et al. Am J Med Genet. 1998 Aug 27;79(1):35-7. doi: 10.1002/(sici)1096-8628(19980827)79:1<35::aid-ajmg9>3.0.co;2-h. Am J Med Genet. 1998. PMID: 9738866
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.
Concolino D, Iembo MA, Moricca MT, Rapsomaniki M, Marotta R, Galesi O, Fichera M, Romano C, Strisciuglio P. Concolino D, et al. Among authors: moricca mt. Eur J Med Genet. 2012 Jan;55(1):67-70. doi: 10.1016/j.ejmg.2011.09.001. Epub 2011 Sep 25. Eur J Med Genet. 2012. PMID: 21971480
18 results