Disease: Immotile cilia syndrome- due to defective radial spokes
- A locus for primary ciliary dyskinesia maps to chromosome 19q
- A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects
- Blind quantitative electron microscopy of cilia from patients with primary ciliary dyskinesia and from normal subjects
- CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
- Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography
- Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review
- Cilia with defective radial spokes: a cause of human respiratory disease
- Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia
- Ciliary dyskinesis: the immotile cilia syndrome
- Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients
- Ciliary ultrastructure and nasal mucociliary clearance in chronic and allergic rhinitis
- Ciliary ultrastructure in primary ciliary dyskinesia and other chronic respiratory conditions: the relevance of microtubular abnormalities
- Ciliary ultrastructure of respiratory and fallopian tube epithelium in a sterile woman with Kartagener's syndrome. A quantitative estimation
- Clinical features and ultrastructure of primary ciliary dyskinesia and Young syndrome
- Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure
- Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia
- Disorders of ciliary motility
- Fertility, immotile cilia and chronic respiratory infections
- Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia
- Function and ultrastructure of cilia in primary ciliary dyskinesia
- Genetic aspects of immotile cilia syndrome
- How useful is the ultrastructural study of the cilia of the respiratory tract in the diagnosis of an immotile cilia syndrome?
- Immotile cilia disease with neonatal disclosure. Ultrastructural study
- Immotile cilia syndrome: radial spokes deficiency in a patient with Kartagener's triad
- Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
- Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required
- Kartagener's syndrome with motile cilia and immotile spermatozoa: axonemal ultrastructure and function
- Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects
- Mice with a Deletion of <em>Rsph1</em> Exhibit a Low Level of Mucociliary Clearance and Develop a Primary Ciliary Dyskinesia Phenotype
- Mice with a Deletion of Rsph1 Exhibit a Low Level of Mucociliary Clearance and Develop a Primary Ciliary Dyskinesia Phenotype
- Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect
- Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms
- Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
- Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients
- Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities
- Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
- Neutrophil function in the immotile cilia syndrome
- Normal ciliary ultrastructure in children with Kartagener's syndrome
- Primary ciliary dyskinesia in a Staffordshire bull terrier
- Primary ciliary dyskinesia--importance of early diagnosis
- Primary ciliary dyskinesia, presentation of an atypical case
- Primary ciliary dyskinesia: cytological and clinical features
- Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images
- RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
- Rsph4a is essential for the triplet radial spoke head assembly of the mouse motile cilia
- Sperm flagella and cilia with pathologic motility and ultrastructure
- Structural insights into the cause of human <em>RSPH4A</em> primary ciliary dyskinesia
- Structural insights into the cause of human RSPH4A primary ciliary dyskinesia
- Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects
- The <em>RSPH4A</em> Gene in Primary Ciliary Dyskinesia
- The dyskinetic cilia syndrome in childhood. Modifications of ultrastructural patterns
- The immotile cilia syndrome--one cause of persistent upper respiratory tract infection
- The immotile cilia syndrome: phase contrast light microscopy, scanning and transmission electron microscopy
- The immotile cilia syndrome. A rare form of male infertility
- The RSPH4A Gene in Primary Ciliary Dyskinesia
- Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia
- Ultrastructural abnormalities in respiratory cilia and sperm tails in a patient with Kartagener's syndrome
- Ultrastructural abnormalities of respiratory cilia: a 25-year experience
- Ultrastructural ciliary findings in nasal obstructive diseases
- Ultrastructure and function of cilia and spermatozoa flagella in a patient with Kartagener's syndrome
- Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population
- Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure