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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with midbrain and hindbrain malformations"
Page 1
Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.
Doering JE, Kane K, Hsiao YC, Yao C, Shi B, Slowik AD, Dhagat B, Scott DD, Ault JG, Page-McCaw PS, Ferland RJ. Doering JE, et al. J Comp Neurol. 2008 Nov 10;511(2):238-56. doi: 10.1002/cne.21824. J Comp Neurol. 2008. PMID: 18785627 Free PMC article.
Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by cerebellum and brainstem malformations. Individuals with JBTS have abnormal breathing and eye movements, ataxia, hypotonia, and cognitive difficulty, and they display mirror movements. ...Mu …
Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by cerebellum and brainstem malformations. Individual …
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Valente EM, et al. Ann Neurol. 2005 Apr;57(4):513-9. doi: 10.1002/ana.20422. Ann Neurol. 2005. PMID: 15786477 Free article.
Jouberts syndrome-related disorders are a group of recessively inherited conditions showing cerebellar vermis hypoplasia and the molar tooth sign of the midbrain-hindbrain junction. ...We find that JBTS1 and -3 primarily show features restricted to the centra …
Jouberts syndrome-related disorders are a group of recessively inherited conditions showing cerebellar vermis hypoplasia and the mola …
Brainstem involvement in high functioning autistic children.
Hashimoto T, Tayama M, Miyazaki M, Murakawa K, Shimakawa S, Yoneda Y, Kuroda Y. Hashimoto T, et al. Acta Neurol Scand. 1993 Aug;88(2):123-8. doi: 10.1111/j.1600-0404.1993.tb04203.x. Acta Neurol Scand. 1993. PMID: 8213056
To determine involvements of the brainstem and/or cerebellum in autism, we compared midsagittal magnetic resonance images of the brains of high functioning autistic children with those of normal controls. We found that the midbrain and medulla oblongata were significantly …
To determine involvements of the brainstem and/or cerebellum in autism, we compared midsagittal magnetic resonance images of the brains of h …
Follow-up in children with Joubert syndrome.
Steinlin M, Schmid M, Landau K, Boltshauser E. Steinlin M, et al. Neuropediatrics. 1997 Aug;28(4):204-11. doi: 10.1055/s-2007-973701. Neuropediatrics. 1997. PMID: 9309710
Siblings did not show similar development and sex was not predicting outcome. The following oculomotor problems were seen: mystagmus in 11, ocular motor apraxia in six, isolated ptosis in two, and vertical gaze palsy in three. ...
Siblings did not show similar development and sex was not predicting outcome. The following oculomotor problems were seen: mystagmus …
Vanishing cerebellum in myelomeningocoele.
Boltshauser E, Schneider J, Kollias S, Waibel P, Weissert M. Boltshauser E, et al. Eur J Paediatr Neurol. 2002;6(2):109-13. doi: 10.1053/ejpn.2001.0556. Eur J Paediatr Neurol. 2002. PMID: 11995957
Reduced hindbrain herniation observed after intrauterine myelomeningocoele repair suggests that posterior fossa changes in myelomeningocoele are secondary results of prolonged prenatal spinal cerebrospinal fluid leak. ...This phenomenon was called 'vanishing cerebel …
Reduced hindbrain herniation observed after intrauterine myelomeningocoele repair suggests that posterior fossa changes in mye …
Cellular and ultra structural evidence for cytoskeletal localization of prolyl endopeptidase-like protein in neurons.
Morawski M, Nuytens K, Juhasz T, Zeitschel U, Seeger G, Waelkens E, Regal L, Schulz I, Arendt T, Szeltner Z, Creemers J, Rossner S. Morawski M, et al. Neuroscience. 2013 Jul 9;242:128-39. doi: 10.1016/j.neuroscience.2013.02.038. Epub 2013 Feb 26. Neuroscience. 2013. PMID: 23485813
The biochemical properties and subcellular localization of prolyl endopeptidase (PREP) in brain are well characterized and its implications in the realization of cognitive processes and in the pathogenesis of neurodegenerative disorders are a matter of intensive investigat …
The biochemical properties and subcellular localization of prolyl endopeptidase (PREP) in brain are well characterized and its implications …
Parenting stress and its relationship to the behavior of children with Joubert syndrome.
Farmer JE, Deidrick KM, Gitten JC, Fennell EB, Maria BL. Farmer JE, et al. J Child Neurol. 2006 Feb;21(2):163-7. doi: 10.1177/08830738060210020401. J Child Neurol. 2006. PMID: 16566885
This study describes the relationship between parenting stress and behavior in children with Joubert syndrome, a rare genetic neurodevelopmental disorder. Parents (N = 43) reported severely impaired child adaptive behaviors. ...A hierarchical regression, including d …
This study describes the relationship between parenting stress and behavior in children with Joubert syndrome, a rare genetic neurodevelo …
Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity.
Fletcher JM, Copeland K, Frederick JA, Blaser SE, Kramer LA, Northrup H, Hannay HJ, Brandt ME, Francis DJ, Villarreal G, Drake JM, Laurent JP, Townsend I, Inwood S, Boudousquie A, Dennis M. Fletcher JM, et al. J Neurosurg. 2005 Apr;102(3 Suppl):268-79. doi: 10.3171/ped.2005.102.3.0268. J Neurosurg. 2005. PMID: 15881750
Psychometric assessments of handedness, intelligence, academic skills, and adaptive behavior were compared between lesion-level groups and also used to determine the number of children who met research-based criteria for mental retardation, attention deficit hyperactivity diso …
Psychometric assessments of handedness, intelligence, academic skills, and adaptive behavior were compared between lesion-level groups and a …
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
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. ...In addition, liver disease, …
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder char …
Joubert's syndrome: new cases and review of clinicopathologic correlation.
Sztriha L, Al-Gazali LI, Aithala GR, Nork M. Sztriha L, et al. Pediatr Neurol. 1999 Apr;20(4):274-81. doi: 10.1016/s0887-8994(98)00154-4. Pediatr Neurol. 1999. PMID: 10328276
Malformation of the pontomesencephalic junction, with prominent superior cerebellar peduncles and deep interpeduncular fossa, was observed in all patients. ...Correlation between radiologic findings and clinical symptoms and the possible role of abnormal patterning …
Malformation of the pontomesencephalic junction, with prominent superior cerebellar peduncles and deep interpeduncular fossa, was …
17 results