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431 results

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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: morrone a. 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: morrone a. 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: morrone a. 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: morrone a. Clin Genet. 2014 Oct;86(4):367-72. doi: 10.1111/cge.12297. Epub 2013 Nov 18. Clin Genet. 2014. PMID: 24117009
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R. Parrini E, et al. Among authors: morrone a. J Med Genet. 2015 Jun;52(6):405-12. doi: 10.1136/jmedgenet-2014-102959. Epub 2015 Mar 9. J Med Genet. 2015. PMID: 25755106
431 results