ReviewDevelopmental medicine and child neurology2011
The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.
Review in Developmental medicine and child neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 1 of them a synthesis that pooled it.
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Who cites it
76 citing papers in PubMed, 1 synthesis or guideline pooled it, 158 citations in OpenAlex.
- Update on neuroimaging phenotypes of mid-hindbrain malformations.Neuroradiology · 2015Pooled it
- The multifaceted role of EXOC6A in ciliogenesis.eLife · 2026Article
- Identification of New Ciliary Signaling Pathways in the Brain and Insights into Neurological Disorders.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges.Clinical case reports · 2025Article
- Phenotypic Spectrum ofGenes · 2025Review
- The Multifaceted Role of LRRK2 in Parkinson's Disease.Brain sciences · 2025Review
- Methods to Assess Neuronal Primary Cilia Electrochemical Signaling.Journal of cellular physiology · 2025Article
- Neuronal guidance behaviours: the primary cilium perspective.Frontiers in cell and developmental biology · 2025Review
- The Role of HDAC6 in Glioblastoma Multiforme: A New Avenue to Therapeutic Interventions?Biomedicines · 2024Review
- A cell-autonomous role for primary cilium-mediated signaling in long-range commissural axon guidance.Development (Cambridge, England) · 2024Article
- Ciliogenesis defects after neurulation impact brain development and neuronal activity in larval zebrafish.iScience · 2024Article
- Mapping of neuronal and glial primary cilia contactome and connectome in the human cerebral cortex.Neuron · 2024Article
- Preoperative Nasobiliary Drainage as a Predictor of Response Before Surgical Fistula Creation in Joubert Syndrome With Refractory Cholestatic Pruritis.ACG case reports journal · 2023Article
- Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy.Global medical genetics · 2023Article
- Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy.Seminars in liver disease · 2023Review
- Analysis of CT and MRI Manifestations of Joubert Syndrome.Journal of the Belgian Society of Radiology · 2023Article
- The Primary Cilium and Neuronal Migration.Cells · 2022Review
- Flow blockage disrupts cilia-driven fluid transport in the epileptic brain.Acta neuropathologica · 2022Article
- Joubert syndrome a rare entity and role of radiology: A case report.Annals of medicine and surgery (2012) · 2022Article
- Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency.BMJ case reports · 2022Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
A group of disorders with disparate symptomatology, including congenital cerebellar ataxia, retinal blindness, liver fibrosis, polycystic kidney disease, and polydactyly, have recently been united under a single disease mechanism called 'ciliopathies'. The ciliopathies are due to defects of the cellular antenna known as the primary cilium, a microtubule-based extension of cellular membranes found in nearly all cell types. Key among these ciliopathies is Joubert syndrome, displaying ataxia, oculomotor apraxia, and mental retardation* with a pathognomonic 'molar tooth sign' on brain magnetic resonance imaging. The importance of ciliary function in neuronal development has been appreciated only in the last decade with the classification of Joubert syndrome as a ciliopathy. This, together with the identification of many of the clinical features of ciliopathies in individuals with Joubert syndrome and the localization of Joubert syndrome's causative gene products at or near the primary cilium, have defined a new class of neurological disease. Cilia are involved in diverse cellular processes including protein trafficking, photoreception, embryonic axis patterning, and cell cycle regulation. Ciliary dysfunction can affect a single tissue or manifest as multi-organ involvement. Ciliary defects have been described in retinopathies such as retinitis pigmentosa and Leber congenital amaurosis (defects in photoreceptor ciliary protein complexes), renal syndromes with nephronophthisis and cystic dysplastic kidneys, and liver conditions such as fibrosis and biliary cirrhosis. Recognizing the diverse presentations of the ciliopathies and screening strategies following diagnosis is an important part of the treatment plan of children with cilia-related disorders.
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Registered trials
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