REFERENCES
- Carlén B, Stenram U. Primary ciliary dyskinesia: A review. Ultrastruct Pathol 2005;29: 217–20
- van der Baan S, Veerman AJP, Bezemer PD, Feenstra L. Primary ciliary dyskinesia: Quantitative investigation of the ciliary ultrastructure with statistical analysis. Ann Otol Rhinol Laryngol 1987;96: 264–72
- Sirvanci S, Seda Uyan Z, Ercan F, et al. Quantitative analysis of ciliary ultrastructure in patients with primary ciliary dyskinesia. Acta Histochem 2008;110: 34–41
- Knowles M, Daniels LA, Davis S, et al. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics and characterization of clinical disease. Am J Respir Crit Care Med 2013;188: 913–22
- Boon M, Smits A, Cuppens H, et al. Primary ciliary dyskinesia: Critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. Orphanet J Rare Dis 2014;9: 11 . doi: 10.1186/1750-1172-9-11
- Escudier E, Couprie M, Duriez B, et al. Computer-assisted analysis helps detect inner dynein arm abnormalities. Am J Respir Crit Care Med 2002;166: 1257–62
- Carlén B, Lindberg S, Stenram U. Absence of nexin links as a possible cause of primary ciliary dyskinesia. Ultrastruct Pathol 2003;27: 123–6
- Wirschell M, Olbrich H, Werner C, et al. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet 2013;45: 262–9
- Afzelius BA. Ciliary structure in health and disease. Acta Otorhinolaryngol Belg 2000;54: 287–91
- Schneeberger EE, McCormack J, Issenberg HI, et al. Heterogeneity of ciliary morphology in the immotile-cilia syndrome. J Ultrastruct Res 1980;73: 34–43
- Blanchon S, Legendre M, Copin B, et al. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. J Med Genet 2012;49: 410–16
- Antony D, Becker-Heck A, Zariwala MA, et al. Mutations in CCD39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat 2013;34: 462–72
- Austin-Tse C, Halbritter J, Zariwala M, et al. Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia. Am J Hum Genet 2013;93: 672–86
- Papon JF, Coste A, Roudot-Thoraval F, et al. A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. Eur Resp J 2010;35: 1057–63
- Plesec T, Ruiz A, McMahon J, et al. Ultrastructural abnormalities of respiratory cilia. A 25-year experience. Arch Pathol Lab Med 2008;132: 1786–91
- Horani A, Brody SL, Ferkol TW, et al. CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PLoS One 2013;8: e72299
- Olson G, Linck R. Observations of the structural components of flagellar axonemes and central pair microtubules from rat sperm. J Ultrastruct Res 1977;61: 21–43
- Piperno G, Ramanis Z, Smith E, et al. Three distinct inner dynein arms in Chlamydomonas flagella: Molecular composition and location in the axoneme. J Cell Biol 1990;110: 379–89
- Bui KH, Sakakibara H, Movassagh T, et al. Molecular architecture of inner dynein arms in situ in Chlamydomonas reinhardtii flagella. J Cell Biol 2008;183: 923–32
- Bower R, Tritschler D, VanderWaal K, et al. The N-DRC forms a conserved biochemical complex that maintains outer doublet alignment and limits microtubule sliding in motile axonemes. Mol Biol Cell 2013;24: 1134–52