The DOI matches its Crossref record; 110 of the 110 references it cites were found in a registry or an index.
Joubert syndrome: congenital cerebellar ataxia with the molar tooth
Open accessAbstract
Joubert syndrome (JS) is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, which diagnostic hallmark is a unique cerebellar and brainstem malformation recognizable on brain imaging, the “molar tooth sign”. Neurological signs are present from neonatal age and include hypotonia evolving into ataxia, global developmental delay, ocular motor apraxia and breathing dysregulation. These are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton and liver. To date, 21 causative genes have been identified, all encoding for proteins of the primary cilium or its apparatus. This is a subcellular organelle that plays key roles in development and in many cellular functions, making JS part of the expanding family of ciliopathies. There is marked clinical and genetic overlap among distinct ciliopathies, which may co-occur even within families. Such variability is likely explained by an oligogenic model of inheritance, in which mutations, rare variants and polymorphisms at distinct loci interplay to modulate the expressivity of the ciliary phenotype.
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Cites
The primary cilium: a signalling centre during vertebrate development
Goetz, S. C., & Anderson, K. V. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2774 · Cited by 1,824
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Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., & Lupski, J. R. (2001) · Science · doi:10.1126/science.1063525 · Cited by 655
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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., et al. (2011) · Nature Genetics · doi:10.1038/ng.891 · Cited by 638
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Sang, L., Miller, J. J., Corbit, K. C., Giles, R. H., Brauer, M. J., Otto, E. A., Baye, L. M., Wen, X., Scales, S. J., Kwong, M., et al. (2011) · Cell · doi:10.1016/j.cell.2011.04.019 · Cited by 612
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Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells
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Chapter Two Intraflagellar Transport (IFT)
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Cited by
Consensus Paper: Cerebellar Development
Leto, K., Arancillo, M., Becker, E. B. E., Buffo, A., Chiang, C., Ding, B., Dobyns, W. B., Dusart, I., Haldipur, P., Hatten, M. E., et al. (2016) · The Cerebellum · doi:10.1007/s12311-015-0724-2 · Cited by 484
Motile and non-motile cilia in human pathology: From function to phenotypes
Mitchison, H. M., & Valente, E. M. (2017) · The Journal of Pathology · doi:10.1002/path.4843 · Cited by 448
Self-citationBraun, D. A., & Hildebrandt, F. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028191 · Cited by 391
The corticospinal tract: Evolution, development, and human disorders
Welniarz, Q., Dusart, I., & Roze, E. (2017) · Developmental Neurobiology · doi:10.1002/dneu.22455 · Cited by 326
Primary Cilia in the Developing and Mature Brain
Guemez-Gamboa, A., Coufal, N. G., & Gleeson, J. G. (2014) · Neuron · doi:10.1016/j.neuron.2014.04.024 · Cited by 296
Metadata
- Authors
- Romani, M., Micalizzi, A., & Valente, E. M.
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2013-09
- Volume
- 12
- Issue
- 9
- Pages
- 894-905
- ISSN
- 1474-4422 (ISSN-L)
- OpenAlex
- W2150641634
- Cited by
- 386
- References
- 110
- FWCI
- 20.23
- Type
- journal article
- Language
- en
- Open access
- bronze
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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