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Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia.
Crowley S, Azevedo I, Boon M, Bush A, Eber E, Haarman E, Karadag B, Kötz K, Leigh M, Moreno-Galdó A, Mussaffi H, Nielsen KG, Omran H, Papon JF, Pohunek P, Priftis K, Rindlisbacher B, Santamaria F, Valiulis A, Witt M, Yiallouros P, Zivkovic Z, Kuehni CE, Lucas JS. Crowley S, et al. Among authors: witt m. ERJ Open Res. 2020 Sep 14;6(3):00377-2020. doi: 10.1183/23120541.00377-2020. eCollection 2020 Jul. ERJ Open Res. 2020. PMID: 32964005 Free PMC article.
An international registry for primary ciliary dyskinesia.
Werner C, Lablans M, Ataian M, Raidt J, Wallmeier J, Große-Onnebrink J, Kuehni CE, Haarman EG, Leigh MW, Quittner AL, Lucas JS, Hogg C, Witt M, Priftis KN, Yiallouros P, Nielsen KG, Santamaria F, Ückert F, Omran H. Werner C, et al. Among authors: witt m. Eur Respir J. 2016 Mar;47(3):849-59. doi: 10.1183/13993003.00776-2015. Epub 2015 Dec 8. Eur Respir J. 2016. PMID: 26659107 Free article.
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H. Loges NT, et al. Among authors: witt m. Am J Hum Genet. 2008 Nov;83(5):547-58. doi: 10.1016/j.ajhg.2008.10.001. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950741 Free PMC article.
Perspectives for Primary Ciliary Dyskinesia.
Bukowy-Bieryllo Z, Witt M, Zietkiewicz E. Bukowy-Bieryllo Z, et al. Among authors: witt m. Int J Mol Sci. 2022 Apr 8;23(8):4122. doi: 10.3390/ijms23084122. Int J Mol Sci. 2022. PMID: 35456939 Free PMC article.
RPGR mutations might cause reduced orientation of respiratory cilia.
Bukowy-Bieryłło Z, Ziętkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, Fliegauf M, Voelkel K, Rutkiewicz E, Rutland J, Morgan L, Pogorzelski A, Martin J, Haan E, Berger W, Omran H, Witt M. Bukowy-Bieryłło Z, et al. Among authors: witt m. Pediatr Pulmonol. 2013 Apr;48(4):352-63. doi: 10.1002/ppul.22632. Epub 2012 Aug 6. Pediatr Pulmonol. 2013. PMID: 22888088
Recent advances in primary ciliary dyskinesia genetics.
Kurkowiak M, Ziętkiewicz E, Witt M. Kurkowiak M, et al. Among authors: witt m. J Med Genet. 2015 Jan;52(1):1-9. doi: 10.1136/jmedgenet-2014-102755. Epub 2014 Oct 28. J Med Genet. 2015. PMID: 25351953 Free PMC article. Review.
959 results