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Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Trang H, Samuels M, Ceccherini I, Frerick M, Garcia-Teresa MA, Peters J, Schoeber J, Migdal M, Markstrom A, Ottonello G, Piumelli R, Estevao MH, Senecic-Cala I, Gnidovec-Strazisar B, Pfleger A, Porto-Abal R, Katz-Salamon M. Trang H, et al. Among authors: piumelli r. Orphanet J Rare Dis. 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2. Orphanet J Rare Dis. 2020. PMID: 32958024 Free PMC article. Review.
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: piumelli 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.
Systemic oxidative stress in congenital central hypoventilation syndrome.
Degl'Innocenti D, Becatti M, Peruzzi M, Fiorillo C, Ramazzotti M, Nassi N, Arzilli C, Piumelli R. Degl'Innocenti D, et al. Among authors: piumelli r. Eur Respir J. 2018 Nov 15;52(5):1801497. doi: 10.1183/13993003.01497-2018. Print 2018 Nov. Eur Respir J. 2018. PMID: 30209197 Free article. No abstract available.
21 results