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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with eye movement abnormalities and ataxia"
Page 1
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. …
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognit …
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M, Liu P, Prescott K, Amin S, Davies G, Wangler MF, Dai Y, Bellen HJ. Lu S, et al. Am J Hum Genet. 2022 Oct 6;109(10):1932-1943. doi: 10.1016/j.ajhg.2022.09.005. Am J Hum Genet. 2022. PMID: 36206744 Free PMC article.
Here, we describe eight probands with rare heterozygous missense variants in FRMD5 who present with developmental delay, intellectual disability, ataxia, seizures, and abnormalities of eye movement. The variants are de novo in all for whom parental tes …
Here, we describe eight probands with rare heterozygous missense variants in FRMD5 who present with developmental delay, intellectual disabi …
Cerebellar motor function in spina bifida meningomyelocele.
Dennis M, Salman MS, Juranek J, Fletcher JM. Dennis M, et al. Cerebellum. 2010 Dec;9(4):484-98. doi: 10.1007/s12311-010-0191-8. Cerebellum. 2010. PMID: 20652468 Free PMC article. Review.
Spina bifida meningomyelocele (SBM), a congenital neurodevelopmental disorder, involves dysmorphology of the cerebellum, and its most obvious manifestations are motor deficits. ...That motor function in individuals with SBM is disordered in a manner phenotypi …
Spina bifida meningomyelocele (SBM), a congenital neurodevelopmental disorder, involves dysmorphology of the cerebellum …
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Chance PF, et al. J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. J Child Neurol. 1999. PMID: 10511339 Review.
Joubert syndrome is an autosomal-recessive disorder characterized by cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. ...A genome-wide linkage analysis carried out in 10 Joubert sy …
Joubert syndrome is an autosomal-recessive disorder characterized by cerebellar hypoplasia, hypotonia, developmental delay, abnorm …
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J. Zech M, et al. Parkinsonism Relat Disord. 2020 Aug;77:70-75. doi: 10.1016/j.parkreldis.2020.06.027. Epub 2020 Jun 29. Parkinsonism Relat Disord. 2020. PMID: 32629324
RESULTS: In all case subjects, we detected ultra-rare homozygous or compound heterozygous variants in MAG. The observed nonsense (c.693C > A [p.Tyr231*], c.980G > A [p.Trp327*], c.1126C > T [p.Gln376*], and 1522C > T [p.Arg508*]) and frameshift (c.517_521dupAGC …
RESULTS: In all case subjects, we detected ultra-rare homozygous or compound heterozygous variants in MAG. The observed nonsense (c.6 …
A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.
Calame DG, Houck K, Lotze T, Emrick L, Parnes M. Calame DG, et al. Eur J Paediatr Neurol. 2021 Mar;31:21-26. doi: 10.1016/j.ejpn.2021.01.004. Epub 2021 Jan 16. Eur J Paediatr Neurol. 2021. PMID: 33578253
In contrast, pathogenic variants in ATP1A3, an ATP1A2 paralog, cause alternating hemiplegia of childhood (AHC), a severe neurodevelopmental disorder with infantile onset hemiplegic attacks, seizures, dystonia, chorea and developmental delay. ...Here we describe two …
In contrast, pathogenic variants in ATP1A3, an ATP1A2 paralog, cause alternating hemiplegia of childhood (AHC), a severe neurodevelopment …
Cognitive outcome in children with rhombencephalosynapsis.
Poretti A, Alber FD, Bürki S, Toelle SP, Boltshauser E. Poretti A, et al. Eur J Paediatr Neurol. 2009 Jan;13(1):28-33. doi: 10.1016/j.ejpn.2008.02.005. Epub 2008 Apr 14. Eur J Paediatr Neurol. 2009. PMID: 18407532
Other symptoms were muscular hypotonia, abnormal eye movements, and head stereotypies. Three patients had pathological scores on both attention and hyperactivity/impulsivity scales. ...No definitive correlation between cognitive impairment and addition …
Other symptoms were muscular hypotonia, abnormal eye movements, and head stereotypies. Three patients had pathological …
A computational model for cerebral cortical dysfunction in autism spectrum disorders.
Vattikuti S, Chow CC. Vattikuti S, et al. Biol Psychiatry. 2010 Apr 1;67(7):672-8. doi: 10.1016/j.biopsych.2009.09.008. Epub 2009 Oct 31. Biol Psychiatry. 2010. PMID: 19880095 Free PMC article. Review.
BACKGROUND: Perturbations to the microscopic level balance between synaptic excitation and inhibition and neuron organization in the cerebral cortex are suggested to underlie autism spectrum disorder (ASD) traits. The mechanism linking these perturbations to cognitive beha …
BACKGROUND: Perturbations to the microscopic level balance between synaptic excitation and inhibition and neuron organization in the cerebra …
Ophthalmic features of Joubert syndrome.
Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA. Khan AO, et al. Ophthalmology. 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005. Ophthalmology. 2008. PMID: 19041481
PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermis. Diagnosis is based on characteristic clinical features (e.g., hypotonia, episodic hyperpnea, developmental d …
PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation of the b …
Clinical characteristics of 10 patients with continuous spikes and waves during slow sleep syndrome.
Hergüner MO, Incecik F, Altunbaşak S, Kiriş N. Hergüner MO, et al. Pediatr Neurol. 2008 Jun;38(6):411-4. doi: 10.1016/j.pediatrneurol.2008.02.007. Pediatr Neurol. 2008. PMID: 18486823
Continuous spikes and waves during slow sleep syndrome is characterized by the presence of spike-and-wave discharges in at least 85% of non-rapid eye movement sleep. Associated clinical features vary. Here, features of 10 patients with this syndrome are compared to …
Continuous spikes and waves during slow sleep syndrome is characterized by the presence of spike-and-wave discharges in at least 85% of non- …
16 results