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1,537 results

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Quoted phrase not found in phrase index: "Abnormal cerebellum morphology"
Page 1
The Cerebellum and Neurodevelopmental Disorders.
Stoodley CJ. Stoodley CJ. Cerebellum. 2016 Feb;15(1):34-37. doi: 10.1007/s12311-015-0715-3. Cerebellum. 2016. PMID: 26298473 Free PMC article. Review.
Early cerebellar damage is often associated with poorer outcomes than cerebellar damage in adulthood, suggesting that the cerebellum is particularly important during development. Differences in cerebellar development and/or early cerebellar damage could impact a wide range …
Early cerebellar damage is often associated with poorer outcomes than cerebellar damage in adulthood, suggesting that the cerebellum …
The basal ganglia and the cerebellum: nodes in an integrated network.
Bostan AC, Strick PL. Bostan AC, et al. Nat Rev Neurosci. 2018 Jun;19(6):338-350. doi: 10.1038/s41583-018-0002-7. Nat Rev Neurosci. 2018. PMID: 29643480 Free PMC article. Review.
Similarly, the dentate nucleus in the cerebellum is the source of a dense disynaptic projection to the striatum. These observations lead to a new functional perspective that the basal ganglia, the cerebellum and the cerebral cortex form an integrated network. …
Similarly, the dentate nucleus in the cerebellum is the source of a dense disynaptic projection to the striatum. These observation …
The neuroanatomy of autism - a developmental perspective.
Donovan AP, Basson MA. Donovan AP, et al. J Anat. 2017 Jan;230(1):4-15. doi: 10.1111/joa.12542. Epub 2016 Sep 12. J Anat. 2017. PMID: 27620360 Free PMC article. Review.
Although these reports have been focused primarily on the presumed pathological anatomy, they are providing us with important insights into normal brain anatomy and are stimulating new ideas and hypotheses about the normal trajectory of brain development and the fun …
Although these reports have been focused primarily on the presumed pathological anatomy, they are providing us with important insight …
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. ...Variant pathogenicity was define …
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, ab …
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. Di Donato N, et al. Brain. 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164. Brain. 2022. PMID: 35769015 Free PMC article.
Notably, we observed a significantly higher proportion of loss-of-function variants in the biallelic compared to the monoallelic cohort, where the variant spectrum included missense and splice-site variants. We assessed the impact of two canonical splice-site variants o …
Notably, we observed a significantly higher proportion of loss-of-function variants in the biallelic compared to the monoallelic coho …
The cerebellum and dystonia.
Bologna M, Berardelli A. Bologna M, et al. Handb Clin Neurol. 2018;155:259-272. doi: 10.1016/B978-0-444-64189-2.00017-2. Handb Clin Neurol. 2018. PMID: 29891064 Review.
A growing body of evidence, however, is challenging the traditional view and suggest that the cerebellum may also play a role in dystonia. Studies on animals indicate that experimental manipulations of the cerebellum lead to dystonic-like movements. Several clinical …
A growing body of evidence, however, is challenging the traditional view and suggest that the cerebellum may also play a role in dyst …
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H. Aksu Uzunhan T, et al. Clin Neurol Neurosurg. 2023 Jan;224:107560. doi: 10.1016/j.clineuro.2022.107560. Epub 2022 Dec 13. Clin Neurol Neurosurg. 2023. PMID: 36580738
RESULTS: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was …
RESULTS: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, H …
Pre-clinical models of neurodevelopmental disorders: focus on the cerebellum.
Shevelkin AV, Ihenatu C, Pletnikov MV. Shevelkin AV, et al. Rev Neurosci. 2014;25(2):177-94. doi: 10.1515/revneuro-2013-0049. Rev Neurosci. 2014. PMID: 24523305 Free PMC article. Review.
Recent studies have advanced our understanding of the role of the cerebellum in non-motor behaviors. Abnormalities in the cerebellar structure have been demonstrated to produce changes in emotional, cognitive, and social behaviors resembling clinical manifestations …
Recent studies have advanced our understanding of the role of the cerebellum in non-motor behaviors. Abnormalities in the cere …
Cilia, ciliopathies and hedgehog-related forebrain developmental disorders.
Andreu-Cervera A, Catala M, Schneider-Maunoury S. Andreu-Cervera A, et al. Neurobiol Dis. 2021 Mar;150:105236. doi: 10.1016/j.nbd.2020.105236. Epub 2020 Dec 28. Neurobiol Dis. 2021. PMID: 33383187 Free article. Review.
The purpose of this review is to provide the reader with a framework to understand the developmental origin of the forebrain defects observed in severe ciliopathies with respect to perturbations of the Shh pathway. ...
The purpose of this review is to provide the reader with a framework to understand the developmental origin of the forebrain defects obse …
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. The biochemical and genetic basis of Joubert syndrome is unknown and a specific chr …
Joubert syndrome is an autosomal-recessive disorder characterized by cerebellar hypoplasia, hypotonia, developmental delay, abnormal …
1,537 results