Piumelli R - Search Results

1

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome.

Matera I, Bachetti T, Cinti R, Lerone M, Gagliardi L, Morandi F, Motta M, Mosca F, Ottonello G, Piumelli R, Schober JG, Ravazzolo R, Ceccherini I. Matera I, et al. Among authors: piumelli r. Am J Med Genet. 2002 Nov 22;113(2):178-82. doi: 10.1002/ajmg.10746. Am J Med Genet. 2002. PMID: 12407709

2

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.

3

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.

4

A Common 3'UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population.

Bachetti T, Bagnasco S, Piumelli R, Palmieri A, Ceccherini I. Bachetti T, et al. Among authors: piumelli r. Front Neurol. 2021 Mar 19;12:642735. doi: 10.3389/fneur.2021.642735. eCollection 2021. Front Neurol. 2021. PMID: 33815256 Free PMC article.

5

Fog-induced cough with impaired respiratory sensation in congenital central hypoventilation syndrome.

Lavorini F, Fontana GA, Pantaleo T, Geri P, Piumelli R, Pistolesi M, Widdicombe J. Lavorini F, et al. Among authors: piumelli r. Am J Respir Crit Care Med. 2007 Oct 15;176(8):825-32. doi: 10.1164/rccm.200612-1870OC. Epub 2007 Aug 2. Am J Respir Crit Care Med. 2007. PMID: 17673690

6

Cough in children with congenital central hypoventilation syndrome.

Fontana GA, Lavorini F, Geri P, Zanasi A, Piumelli R. Fontana GA, et al. Among authors: piumelli r. Pulm Pharmacol Ther. 2004;17(6):425-9. doi: 10.1016/j.pupt.2004.09.018. Pulm Pharmacol Ther. 2004. PMID: 15564086 Review.

7

Sleeping problems in mothers and fathers of patients suffering from congenital central hypoventilation syndrome.

Paddeu EM, Giganti F, Piumelli R, De Masi S, Filippi L, Viggiano MP, Donzelli G. Paddeu EM, et al. Among authors: piumelli r. Sleep Breath. 2015 Sep;19(3):1057-64. doi: 10.1007/s11325-014-1080-z. Epub 2014 Nov 25. Sleep Breath. 2015. PMID: 25631640

8

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.

9

Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up.

Peruzzi M, Ramazzotti M, Damiano R, Vasarri M, la Marca G, Arzilli C, Piumelli R, Nassi N, Degl'Innocenti D. Peruzzi M, et al. Among authors: piumelli r. Antioxidants (Basel). 2022 May 9;11(5):929. doi: 10.3390/antiox11050929. Antioxidants (Basel). 2022. PMID: 35624794 Free PMC article.

10

Can we still do something-and what? - for a seemingly missing syndrome?: "Yes we can".

Piumelli R, Arzilli C, Nassi N, Peruzzi M, Ernst CM, Salvatori C. Piumelli R, et al. Ital J Pediatr. 2019 Oct 29;45(1):132. doi: 10.1186/s13052-019-0735-6. Ital J Pediatr. 2019. PMID: 31665038 Free PMC article.

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