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Principali pubblicazioni scientifiche su Discinesia Ciliare Primaria/Sindrome di Kartagener:




  1. Raidt J, Maitre B, Pennekamp P, Altenburg J, Anagnostopoulou P, Armengot M, Bloemsma LD, Boon M, Borrelli M, Brinkmann F, Carr SB, Carroll MP, Castillo-Corullón S, Coste A, Cutrera R, Dehlink E, Destouches DMS, Di Cicco ME, Dixon L, Emiralioglu N, Erdem Eralp E, Haarman EG, Hogg C, Karadag B, Kobbernagel HE, Lorent N, Mall MA, Marthin JK, Martinu V, Narayanan M, Ozcelik U, Peckham D, Pifferi M, Pohunek P, Polverino E, Range S, Ringshausen FC, Robson E, Roehmel J, Rovira-Amigo S, Santamaria F, Schlegtendal A, Szépfalusi Z, Tempels P, Thouvenin G, Ullmann N, Walker WT, Wetzke M, Yiallouros P, Omran H, Nielsen KG. The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN. ERJ Open Res. 2022 Aug 15;8(3):00139-2022. doi: 10.1183/23120541.00139-2022. PMID: 35983540; PMCID: PMC9379353.

  2. Pifferi M, Boner AL, Gracci S, Fonnesu R, Maj D, Donzelli G, Michelucci A, Cangiotti A, Bertini V, Valetto A, Caligo MA, Miccoli M, Peroni D, Bush A. Longitudinal Nitric Oxide Levels and Infections by Ultrastructure and Genotype in Primary Ciliary Dyskinesia. Chest. 2022 Dec;162(6):1265-1276. doi: 10.1016/j.chest.2022.06.019. Epub 2022 Jun 28. PMID: 35777446.

  3. Pifferi M, Bush A, Mulé G, Gracci S, Fonnesu R, Michelucci A, Cangiotti A, Caligo MA, Miccoli M, Boner AL, Peroni D. Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia. Ann Am Thorac Soc. 2021 Jun;18(6):963-970. doi: 10.1513/AnnalsATS.202007-816OC. PMID: 33760720.

  4. Cangiotti AM, Pifferi M, Fonnesu R, Gracci S, Cinti S. Cytoplasmic ciliary inclusions can reflect an abnormal ciliogenesis in respiratory epithelium. Pediatr Pulmonol. 2020 Aug;55(8):1874-1875. doi: 10.1002/ppul.24859. Epub 2020 May 26. PMID: 32453895.

  5. Pifferi M, Bush A, Mariani F, Piras M, Michelucci A, Cangiotti A, Di Cicco M, Caligo MA, Miccoli M, Boner AL, Peroni D. Lung Function Longitudinal Study by Phenotype and Genotype in Primary Ciliary Dyskinesia. Chest. 2020 Jul;158(1):117-120. doi: 10.1016/j.chest.2020.02.001. Epub 2020 Feb 12. PMID: 32059959.

  6. Maisetta G, Grassi L, Esin S, Kaya E, Morelli A, Puppi D, Piras M, Chiellini F, Pifferi M, Batoni G. Targeting Pseudomonas aeruginosa in the Sputum of Primary Ciliary Dyskinesia Patients with a Combinatorial Strategy Having Antibacterial and Anti-Virulence Potential. Int J Mol Sci. 2019 Dec 20;21(1):69. doi: 10.3390/ijms21010069. PMID: 31861859; PMCID: PMC6981532.

  7. Pifferi M, Bush A, Rizzo M, Tonacci A, Di Cicco M, Piras M, Maggi F, Paiola G, Michelucci A, Cangiotti A, Peroni D, Caramella D, Boner AL. Olfactory dysfunction is worse in primary ciliary dyskinesia compared with other causes of chronic sinusitis in children. Thorax. 2018 Oct;73(10):980-982. doi:10.1136/thoraxjnl-2017-210661. Epub 2018 Feb 28. PMID: 29490941.

  8. Pifferi M, Bush A, Caramella D, Metelli MR, Di Cicco M, Piras M, Gherarducci G, Capristo C, Maggi F, Peroni D, Boner AL. Matrix metalloproteinases and airway remodeling and function in primary ciliary dyskinesia. Respir Med. 2017 Mar;124:49-56. doi: 10.1016/j.rmed.2017.02.001. Epub 2017 Feb 2. PMID: 28284321.

  9. Lai M, Pifferi M, Bush A, Piras M, Michelucci A, Di Cicco M, del Grosso A, Quaranta P, Cursi C, Tantillo E, Franceschi S, Mazzanti MC, Simi P, Saggese G, Boner A, Pistello M. Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia. J Med Genet. 2016 Apr;53(4):242-9. doi: 10.1136/jmedgenet-2015-103539. Epub 2016 Jan 4. PMID: 26729821.

  10. Pifferi M, Bush A, Michelucci A, Di Cicco M, Piras M, Caramella D, Mazzei F, Neri M, Pioggia G, Tartarisco G, Saggese G, Simi P, Boner AL. Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia. Pediatr Pulmonol. 2015 Feb;50(2):179-86. doi: 10.1002/ppul.23026. Epub 2014 Apr 19. PMID: 24753481.

  11. Pifferi M, Bush A, Montemurro F, Pioggia G, Piras M, Tartarisco G, Di Cicco M, Chinellato I, Cangiotti AM, Boner AL. Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%? Eur Respir J. 2013 Oct;42(4):1161. doi: 10.1183/09031936.00108613. PMID: 24081773.

  12. Pifferi M, Di Cicco M, Piras M, Cangiotti AM, Saggese G. Up to date on primary ciliary dyskinesia in children. Early Hum Dev. 2013 Oct;89 Suppl 3:S45-8. doi: 10.1016/j.earlhumdev.2013.07.022. Epub 2013 Aug 22. PMID: 23973004.

  13. Pifferi M, Bush A, Montemurro F, Pioggia G, Piras M, Tartarisco G, Di Cicco M, Chinellato I, Cangiotti AM, Boner AL. Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis. Eur Respir J. 2013 Apr;41(4):960-5. doi: 10.1183/09031936.00039412. Epub 2012 Aug 16. PMID: 22903970.

  14. Pifferi M, Bush A, Pioggia G, Caramella D, Tartarisco G, Di Cicco M, Zangani M, Chinellato I, Maggi F, Tezza G, Macchia P, Boner A. Evaluation of pulmonary disease using static lung volumes in primary ciliary dyskinesia. Thorax. 2012 Nov;67(11):993-9. doi: 10.1136/thoraxjnl-2011-200137. Epub 2012 Jul 7. PMID: 22771515.

  15. Maggi F, Pifferi M, Michelucci A, Albani M, Sbranti S, Lanini L, Simi P, Macchia P, Pistello M, Bendinelli M. Torque teno virus viremia load size in patients with selected congenital defects of innate immunity. Clin Vaccine Immunol. 2011 Apr;18(4):692-4. doi: 10.1128/CVI.00466-10. Epub 2011 Feb 16. PMID: 21325487; PMCID: PMC3122573.

  16. Pifferi M, Bush A, Maggi F, Michelucci A, Ricci V, Conidi ME, Cangiotti AM, Bodini A, Simi P, Macchia P, Boner AL. Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia. Eur Respir J. 2011 Mar;37(3):572-7. doi: 10.1183/09031936.00044310. Epub 2011 Jan 27. PMID: 21273388.

  17. Pifferi M, Bush A, Caramella D, Di Cicco M, Zangani M, Chinellato I, Macchia P, Boner AL. Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia. Eur Respir J. 2011 Mar;37(3):566-71. doi: 10.1183/09031936.00068810. Epub 2010 Jul 22. PMID: 20650983.

  18. Pifferi M, Michelucci A, Conidi ME, Cangiotti AM, Simi P, Macchia P, Boner AL. New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. Eur Respir J. 2010 Jun;35(6):1413-6. doi: 10.1183/09031936.00186209. PMID: 20513915.

  19. Mantovani G, Pifferi M, Vozzi G. Automated software for analysis of ciliary beat frequency and metachronal wave orientation in primary ciliary dyskinesia. Eur Arch Otorhinolaryngol. 2010 Jun;267(6):897-902. doi: 10.1007/s00405-009-1161-y. Epub 2009 Nov 19. PMID: 19924426.

  20. Pifferi M, Bush A, Di Cicco M, Pradal U, Ragazzo V, Macchia P, Boner AL. Health-related quality of life and unmet needs in patients with primary ciliary dyskinesia. Eur Respir J. 2010 Apr;35(4):787-94. doi: 10.1183/09031936.00051509. Epub 2009 Sep 24. PMID: 19797134.

  21. Pifferi M, Montemurro F, Cangiotti AM, Ragazzo V, Di Cicco M, Vinci B, Vozzi G, Macchia P, Boner AL. Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia. Thorax. 2009 Dec;64(12):1077-81. doi: 10.1136/thx.2008.110940. Epub 2009 Sep 21. PMID: 19770168.

  22. Santamaria F, Montella S, Pifferi M, Ragazzo V, De Stefano S, De Paulis N, Maglione M, Boner AL. A descriptive study of non-cystic fibrosis bronchiectasis in a pediatric population from central and southern Italy. Respiration. 2009;77(2):160-5. doi: 10.1159/000137510. Epub 2008 Jun 4. PMID: 18523381.

  23. Pifferi M, Maggi F, Di Cristofano C, Cangiotti AM, Nelli LC, Bevilacqua G, Macchia P, Bendinelli M, Boner AL. Torquetenovirus infection and ciliary dysmotility in children with recurrent pneumonia. Pediatr Infect Dis J. 2008 May;27(5):413-8. doi: 10.1097/INF.0b013e318162a14f. PMID: 18360304.

  24. Pifferi M, Caramella D, Cangiotti AM, Ragazzo V, Macchia P, Boner AL. Nasal nitric oxide in atypical primary ciliary dyskinesia. Chest. 2007 Mar;131(3):870-873. doi: 10.1378/chest.06-2472. PMID: 17356106.

  25. Pifferi M, Maggi F, Caramella D, De Marco E, Andreoli E, Meschi S, Macchia P, Bendinelli M, Boner AL. High torquetenovirus loads are correlated with bronchiectasis and peripheral airflow limitation in children. Pediatr Infect Dis J. 2006 Sep;25(9):804-8. doi: 10.1097/01.inf.0000232723.58355.f4. PMID: 16940838.

  26. Pifferi M, Caramella D, Bulleri A, Baldi S, Peroni D, Pietrobelli A, Boner AL. Pediatric bronchiectasis: correlation of HRCT, ventilation and perfusion scintigraphy, and pulmonary function testing. Pediatr Pulmonol. 2004 Oct;38(4):298-303. doi: 10.1002/ppul.20110. PMID: 15334506.

  27. Pifferi M, Cangiotti AM, Caramella D, Pietrobelli A, Ragazzo V, De Marco E, Macchia P, Cinti S, Boner AL. "Cyst-like" structures within the ciliary shafts in children with bronchiectasis. Eur Respir J. 2004 Jun;23(6):857-60. doi: 10.1183/09031936.04.00085704. PMID: 15218998.

  28. Pifferi M, Cangiotti AM, Ragazzo V, Baldini G, Cinti S, Boner AL. Primary ciliary dyskinesia: diagnosis in children with inconclusive ultrastructural evaluation. Pediatr Allergy Immunol. 2001 Oct;12(5):274-82. doi: 10.1046/j.0905-6157.2001.00000.x. PMID: 11737674.

  29. Pifferi M, Caramella D, Bartolozzi C, Baldini M, Di Mauro M, Cangiotti AM. CT-guided radiolabelled aerosol studies for assessing pulmonary impairment in children with bronchiectasis. Pediatr Radiol. 2000 Sep;30(9):632-7. doi: 10.1007/s002470000274. PMID: 11009303.