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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 …
Dyscoordination of non-rapid eye movement sleep oscillations in autism spectrum disorder.
Mylonas D, Machado S, Larson O, Patel R, Cox R, Vangel M, Maski K, Stickgold R, Manoach DS. Mylonas D, et al. Sleep. 2022 Mar 14;45(3):zsac010. doi: 10.1093/sleep/zsac010. Sleep. 2022. PMID: 35022792
Spindles, SOs, and their coordination were characterized during stages 2 (N2) and 3 (N3) non-rapid eye movement sleep. RESULTS: ASD participants showed disrupted SO-spindle coordination during N2 sleep. ...We propose that abnormal sleep oscillations reflect g …
Spindles, SOs, and their coordination were characterized during stages 2 (N2) and 3 (N3) non-rapid eye movement sleep. RESULTS …
The syndrome of infantile-onset saccade initiation delay.
Salman MS, Ikeda KM. Salman MS, et al. Can J Neurol Sci. 2013 Mar;40(2):235-40. doi: 10.1017/s0317167100013792. Can J Neurol Sci. 2013. PMID: 23419574 Review.
Other abnormalities including developmental delay and ataxia have been reported. ...CONCLUSIONS: Infantile-onset saccade initiation delay is frequently associated with deficits in reflexive saccades and less frequently with impaired smooth ocular pursuit. Developmen …
Other abnormalities including developmental delay and ataxia have been reported. ...CONCLUSIONS: Infantile-onset saccade initi …
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
Estimates of the incidence of JSRD range between 1/80,000 and 1/100,000 live births, although these figures may represent an underestimate. The neurological features of JSRD include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye …
Estimates of the incidence of JSRD range between 1/80,000 and 1/100,000 live births, although these figures may represent an underestimate. …
Abnormal vestibular brainstem structure and function in an animal model of autism spectrum disorder.
Mansour Y, Burchell A, Kulesza R. Mansour Y, et al. Brain Res. 2022 Oct 15;1793:148056. doi: 10.1016/j.brainres.2022.148056. Epub 2022 Aug 17. Brain Res. 2022. PMID: 35985362
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that includes several key neuropathological changes and behavioral impairments. ...We investigated this hypothesis using quantitative morphometric analyses, immunohistochemistry for CB, a battery …
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that includes several key neuropathological changes and …
Joubert syndrome: long-term follow-up.
Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, Russell-Eggitt I, Taylor DS, Kriss A. Hodgkins PR, et al. Dev Med Child Neurol. 2004 Oct;46(10):694-9. doi: 10.1017/s0012162204001161. Dev Med Child Neurol. 2004. PMID: 15473174 Free article.
Criteria for diagnosis included absent or markedly hypoplastic cerebellar vermis, abnormal eye movements, and developmental delay. Five patients had died. ...In the 18 clinically reviewed, apnoea occurred in 13 patients. Five had renal problems with cysts and …
Criteria for diagnosis included absent or markedly hypoplastic cerebellar vermis, abnormal eye movements, and developme …
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 …
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
Dehghani M, Mojarad M, Ghayoor Karimiani E, Vahidi Mehrjardi MY, Sahebalzamani A, Ashrafzadeh F, Beiraghi Toosi M, Eslahi A, Ahangari N, Yassini SM, Hassanbeigi A, Rasti A, Kalantar SM, Maroofian R. Dehghani M, et al. Public Health Genomics. 2017;20(3):188-193. doi: 10.1159/000477560. Epub 2017 Jul 19. Public Health Genomics. 2017. PMID: 28719906
JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. ..."Molar tooth" sign of brain …
JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intell …
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.
Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM. Boycott KM, et al. Am J Med Genet A. 2007 Aug 1;143A(15):1715-25. doi: 10.1002/ajmg.a.31832. Am J Med Genet A. 2007. PMID: 17603801
Joubert syndrome (JS)-related disorders (JSRDs) or cerebello-oculo-renal syndromes (CORS) are a group of recessively inherited conditions characterized by a molar tooth sign (MTS) on cranial MRI, a set of core clinical features (developmental delay/mental retardation, hypo …
Joubert syndrome (JS)-related disorders (JSRDs) or cerebello-oculo-renal syndromes (CORS) are a group of recessively inherited condit …
Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.
Mikati MA, Kramer U, Zupanc ML, Shanahan RJ. Mikati MA, et al. Pediatr Neurol. 2000 Aug;23(2):134-41. doi: 10.1016/s0887-8994(00)00157-0. Pediatr Neurol. 2000. PMID: 11020638
The clinical course usually consisted of three phases. The first was dominated by abnormal eye movements and dystonic episodes, the second by hemiplegic spells and psychomotor regression, and the third by persistent developmental delay and fixed neurologic de …
The clinical course usually consisted of three phases. The first was dominated by abnormal eye movements and dystonic e …
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