ArticleNeurology. Genetics2020
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.
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Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27citing papers in PubMed
4.7field-weighted citation impact, top 5% of its field
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Who cites it
27 citing papers in PubMed, 43 citations in OpenAlex.
- Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Article
- Modelling human adult V-SVZ niche assembly and ependymal cell generation in brain organoids.EMBO reports · 2026Article
- Emerging insights into primary ciliary dyskinesia-associated hydrocephalus: a scoping review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- Exploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.Journal of molecular neuroscience : MN · 2025Review
- Ependymal and neural stem cells are close relatives.Stem cell reports · 2025Review
- Primary ciliary dyskinesia.Paediatrics & child health · 2025Article
- Molecular hallmarks of hydrocephalus.Science translational medicine · 2025Review
- Age-related cerebral ventriculomegaly occurs in patients with primary ciliary dyskinesia.Fluids and barriers of the CNS · 2025Article
- Review
- Not all are the same: the power of registries in defining genotype-phenotype relationships in primary ciliary dyskinesia.The European respiratory journal · 2024Article
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
- Primary Ciliary Dyskinesia.Pediatrics · 2024Review
- Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.Science (New York, N.Y.) · 2024Article
- High-Speed Video Microscopy of Ependymal Cilia in Brain Organotypic and Cell Culture Models.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.Frontiers of medicine · 2023Article
- Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- A multi-disciplinary, comprehensive approach to management of children with heterotaxy.Orphanet journal of rare diseases · 2022Review
- Sustained glymphatic transport and impaired drainage to the nasal cavity observed in multiciliated cell ciliopathies with hydrocephalus.Fluids and barriers of the CNS · 2022Article
- The Anti-Inflammatory Agent Bindarit Attenuates the Impairment of Neural Development through Suppression of Microglial Activation in a Neonatal Hydrocephalus Mouse Model.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Clinical phenotypes of primary ciliary dyskinesia.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
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Authors and funding
15 authors at 7 institutions in 2 countries.
Evie Alexandra RobsonNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Luke DixonNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Liam CausonNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
William DawesNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Massimo BenenatiNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Mahmoud FassadNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Robert Anthony HirstNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Priti KeniaNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Eduardo Fernandez MoyaNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Mitali PatelNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Daniel PeckhamNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Andrew RutmanNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Hannah M MitchisonNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Kshitij MankadNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Christopher O'CallaghanNorth of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Great Ormond Street Hospital · GBSt James's University Hospital · GBAlexandria University · EGLeicester Royal Infirmary · GBUniversity College London · GBBirmingham Children's Hospital · GBUniversity of Leicester · GB
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo report a neuroradiologic phenotype associated with reduced generation of multiple motile cilia (RGMC) and mutations in the
methodClinical and radiologic records were retrospectively reviewed for 7 consecutive patients diagnosed by the Leicester UK national primary ciliary dyskinesia (PCD) diagnostic laboratory.
resultsOn MRI scanning, all patients demonstrated hydrocephalus, choroid plexus hyperplasia (CPH), and arachnoid cysts. No patient had any sign of neurologic deficit. All patients had significant lung disease.
conclusionsWe conclude that there is a high incidence of hydrocephalus, arachnoid cysts, and CPH in
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