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Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.
Cuadros Gamboa AL, Benfante R, Nizzardo M, Bachetti T, Pelucchi P, Melzi V, Arzilli C, Peruzzi M, Reinbold RA, Cardani S, Morrone A, Guerrini R, Zucchi I, Corti S, Ceccherini I, Piumelli R, Nassi N, Di Lascio S, Fornasari D. Cuadros Gamboa AL, et al. Among authors: guerrini r. Stem Cell Res. 2022 May;61:102781. doi: 10.1016/j.scr.2022.102781. Epub 2022 Apr 7. Stem Cell Res. 2022. PMID: 35421844 Free article.
New clinical and molecular insights on Barth syndrome.
Ferri L, Donati MA, Funghini S, Malvagia S, Catarzi S, Lugli L, Ragni L, Bertini E, Vaz FM, Cooper DN, Guerrini R, Morrone A. Ferri L, et al. Among authors: guerrini r. Orphanet J Rare Dis. 2013 Feb 14;8:27. doi: 10.1186/1750-1172-8-27. Orphanet J Rare Dis. 2013. PMID: 23409742 Free PMC article.
Galactosialidosis: review and analysis of CTSA gene mutations.
Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, d'Azzo A, Morrone A. Caciotti A, et al. Among authors: guerrini r. Orphanet J Rare Dis. 2013 Aug 2;8:114. doi: 10.1186/1750-1172-8-114. Orphanet J Rare Dis. 2013. PMID: 23915561 Free PMC article. Review.
Aminoacylase I deficiency due to ACY1 mRNA exon skipping.
Ferri L, Funghini S, Fioravanti A, Biondi EG, la Marca G, Guerrini R, Donati MA, Morrone A. Ferri L, et al. Among authors: guerrini r. Clin Genet. 2014 Oct;86(4):367-72. doi: 10.1111/cge.12297. Epub 2013 Nov 18. Clin Genet. 2014. PMID: 24117009
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
Catarzi S, Caciotti A, Thusberg J, Tonin R, Malvagia S, la Marca G, Pasquini E, Cavicchi C, Ferri L, Donati MA, Baronio F, Guerrini R, Mooney SD, Morrone A. Catarzi S, et al. Among authors: guerrini r. ScientificWorldJournal. 2013 Oct 31;2013:625824. doi: 10.1155/2013/625824. eCollection 2013. ScientificWorldJournal. 2013. PMID: 24294134 Free PMC article.
1,080 results