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Ciliary Genes in Renal Cystic Diseases.
Adamiok-Ostrowska A, Piekiełko-Witkowska A. Adamiok-Ostrowska A, et al. Cells. 2020 Apr 8;9(4):907. doi: 10.3390/cells9040907. Cells. 2020. PMID: 32276433 Free PMC article. Review.
Special focus is given on the impact of mutations and altered expression of ciliary genes (e.g., encoding polycystins, nephrocystins, Bardet-Biedl syndrome (BBS) proteins, ALS1, Oral-facial-digital syndrome 1 (OFD1) and others) in polycystic kidney disease and nephr …
Special focus is given on the impact of mutations and altered expression of ciliary genes (e.g., encoding polycystins, nephrocystins, Bardet …
Inherited cerebrorenal syndromes.
Schurman SJ, Scheinman SJ. Schurman SJ, et al. Nat Rev Nephrol. 2009 Sep;5(9):529-38. doi: 10.1038/nrneph.2009.124. Nat Rev Nephrol. 2009. PMID: 19701229 Review.
Mutations in OCRL also occur in Dent disease, which has a milder disease phenotype than Lowe syndrome. Patients with Joubert syndrome have cerebellar ataxia, pigmentary retinopathy, and nephronophthisis. Joubert syndrome is a genetically heterog …
Mutations in OCRL also occur in Dent disease, which has a milder disease phenotype than Lowe syndrome. Patients with Joubert …
The retinal ciliopathies.
Adams NA, Awadein A, Toma HS. Adams NA, et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424. Ophthalmic Genet. 2007. PMID: 17896309 Review.
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Jouber …
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, …
Cerebellar dentate dysplasia.
Barth PG. Barth PG. Brain Dev. 2011 Sep;33(8):621-6. doi: 10.1016/j.braindev.2011.02.008. Epub 2011 Mar 26. Brain Dev. 2011. PMID: 21441008 Review.
Dysplasia of the cerebellar dentate nucleus is a state of apparent maturational arrest that involves the cerebellar dentate nucleus. Origins include Joubert syndrome, other disorders of axon guidance and dentato-olivary dysplasia. ...
Dysplasia of the cerebellar dentate nucleus is a state of apparent maturational arrest that involves the cerebellar dentate nucleus. Origins …
Cerebellar and brainstem development: an overview in relation to Joubert syndrome.
Yachnis AT, Rorke LB. Yachnis AT, et al. J Child Neurol. 1999 Sep;14(9):570-3. doi: 10.1177/088307389901400904. J Child Neurol. 1999. PMID: 10488901 Review.
An overview of cerebellar and brainstem development is provided as a foundation for suggesting hypotheses about developmental defects in Joubert syndrome. Although neuropathologic studies of Joubert syndrome are rare, and the spectrum of brain patholog …
An overview of cerebellar and brainstem development is provided as a foundation for suggesting hypotheses about developmental defects in …
Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Romani M, Micalizzi A, Valente EM. Romani M, et al. Lancet Neurol. 2013 Sep;12(9):894-905. doi: 10.1016/S1474-4422(13)70136-4. Epub 2013 Jul 17. Lancet Neurol. 2013. PMID: 23870701 Free PMC article. Review.
Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem malformation recognisable on brain imaging-the so-called molar tooth sign. ...The primary ciliu …
Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark o …
The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.
Sattar S, Gleeson JG. Sattar S, et al. Dev Med Child Neurol. 2011 Sep;53(9):793-798. doi: 10.1111/j.1469-8749.2011.04021.x. Epub 2011 Jun 17. Dev Med Child Neurol. 2011. PMID: 21679365 Free PMC article. Review.
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 …
The ciliopathies are due to defects of the cellular antenna known as the primary cilium, a microtubule-based extension of cellular membranes …
Visual function in children with Joubert syndrome.
Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group. Morelli F, et al. Dev Med Child Neurol. 2024 Mar;66(3):379-388. doi: 10.1111/dmcn.15732. Epub 2023 Aug 18. Dev Med Child Neurol. 2024. PMID: 37593819 Review.
METHOD: This retrospective cross-sectional work included 59 patients (33 male; mean age 9 years 2 months, standard deviation 6 years 3 months, range 4 months to 23 years) diagnosed with Joubert syndrome from January 2002 to December 2020. ...Both perceptual a …
METHOD: This retrospective cross-sectional work included 59 patients (33 male; mean age 9 years 2 months, standard deviation 6 years …
Heparin-induced thrombocytopenia: An update for the COVID-19 era.
Bailly J, Haupt L, Joubert J, Loebenberg P, Jacobson BF, Louw VJ, Wessels PF, Opie JJ. Bailly J, et al. S Afr Med J. 2021 Jul 20;111(9):841-848. doi: 10.7196/SAMJ.2021.v111i9.15909. S Afr Med J. 2021. PMID: 34949247 Free article. Review.
There are important similarities and differences between HIT and the new entity of vaccine-induced immune thrombotic thrombocytopenia, also known as thrombosis with thrombocytopenia syndrome, which clinicians need to be aware of....
There are important similarities and differences between HIT and the new entity of vaccine-induced immune thrombotic thrombocytopenia, also …
Movement disorders in autoimmune encephalitis and paraneoplastic neurological syndromes.
Honnorat J, Joubert B. Honnorat J, et al. Rev Neurol (Paris). 2018 Nov;174(9):597-607. doi: 10.1016/j.neurol.2018.07.006. Epub 2018 Sep 7. Rev Neurol (Paris). 2018. PMID: 30201423 Review.
They can sometimes represent the main neurological disorder of a given patient, or just be part of a larger neurological syndrome. Early diagnosis of AE or PNS is essential, as the associated abnormal movements can be effectively treated with immunomodulators. ...
They can sometimes represent the main neurological disorder of a given patient, or just be part of a larger neurological syndrome. Ea …
19 results