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Page 1
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: mussaffi h. 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.
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: mussaffi h. 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.
Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices.
Abitbul R, Amirav I, Blau H, Alkrinawi S, Aviram M, Shoseyov D, Bentur L, Avital A, Springer C, Lavie M, Prais D, Dabbah H, Elias N, Elizur A, Goldberg S, Hevroni A, Kerem E, Luder A, Roth Y, Cohen-Cymberknoh M, Ben Ami M, Mandelberg A, Livnat G, Picard E, Rivlin J, Rotschild M, Soferman R, Loges NT, Olbrich H, Werner C, Wolter A, Herting M, Wallmeier J, Raidt J, Omran H, Mussaffi H. Abitbul R, et al. Among authors: mussaffi h. Respir Med. 2016 Oct;119:41-47. doi: 10.1016/j.rmed.2016.08.015. Epub 2016 Aug 23. Respir Med. 2016. PMID: 27692146 Free article. Clinical Trial.
Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary Dyskinesia.
Cohen-Cymberknoh M, Weigert N, Gileles-Hillel A, Breuer O, Simanovsky N, Boon M, De Boeck K, Barbato A, Snijders D, Collura M, Pradal U, Blau H, Mussaffi H, Price M, Bentur L, Gur M, Aviram M, Picard E, Shteinberg M, Livnat G, Rivlin J, Hiller N, Shoseyov D, Amirav I, Kerem E. Cohen-Cymberknoh M, et al. Among authors: mussaffi h. Respir Med. 2017 Oct;131:241-246. doi: 10.1016/j.rmed.2017.08.028. Epub 2017 Sep 1. Respir Med. 2017. PMID: 28947038 Free article.
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H. Höben IM, et al. Among authors: mussaffi h. Am J Hum Genet. 2018 May 3;102(5):973-984. doi: 10.1016/j.ajhg.2018.03.025. Am J Hum Genet. 2018. PMID: 29727693 Free PMC article.
Pulmonary exacerbations in patients with primary ciliary dyskinesia: an expert consensus definition for use in clinical trials.
Lucas JS, Gahleitner F, Amorim A, Boon M, Brown P, Constant C, Cook S, Crowley S, Destouches DMS, Eber E, Mussaffi H, Haarman E, Harris A, Koerner-Rettberg C, Kuehni CE, Latzin P, Loebinger MR, Lorent N, Maitre B, Moreno-Galdó A, Nielsen KG, Özçelik U, Philipsen LKD, Pohunek P, Polverino E, Rademacher J, Robinson P, Snijders D, Yiallouros P, Carr SB. Lucas JS, et al. Among authors: mussaffi h. ERJ Open Res. 2019 Feb 1;5(1):00147-2018. doi: 10.1183/23120541.00147-2018. eCollection 2019 Feb. ERJ Open Res. 2019. PMID: 30723730 Free PMC article.
International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives.
Marthin JK, Lucas JS, Boon M, Casaulta C, Crowley S, Destouches DMS, Eber E, Escribano A, Haarman E, Hogg C, Maitre B, Marsh G, Martinu V, Moreno-Galdó A, Mussaffi H, Omran H, Pohunek P, Rindlisbacher B, Robinson P, Snijders D, Walker WT, Yiallouros P, Johansen HK, Nielsen KG. Marthin JK, et al. Among authors: mussaffi h. ERJ Open Res. 2021 Aug 2;7(3):00301-2021. doi: 10.1183/23120541.00301-2021. eCollection 2021 Jul. ERJ Open Res. 2021. PMID: 34350277 Free PMC article.
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR. Mitchison HM, et al. Among authors: mussaffi h. Nat Genet. 2012 Mar 4;44(4):381-9, S1-2. doi: 10.1038/ng.1106. Nat Genet. 2012. PMID: 22387996 Free PMC article.
Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities.
Amirav I, Roduta Roberts M, Mussaffi H, Mandelberg A, Roth Y, Abitbul R, Luder A, Blau H, Alkrinawi S, Aviram M, Ben-Ami M, Rotschild M, Bentur L, Shoseyov D, Cohen-Cymberknoh M, Kerem E, Avital A, Springer C, Hevroni A, Dabbah H, Elizur A, Picard E, Goldberg S, Rivlin J, Livnat G, Lavie M, Alias N, Soferman R, Olbrich H, Raidt J, Wallmeier J, Werner C, Loges NT, Omran H. Amirav I, et al. Among authors: mussaffi h. F1000Res. 2016 Aug 18;5:2031. doi: 10.12688/f1000research.9323.2. eCollection 2016. F1000Res. 2016. PMID: 27781089 Free PMC article.
72 results