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Page 1
Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB. Maillard C, et al. Semin Cell Dev Biol. 2023 Mar 15;137:87-95. doi: 10.1016/j.semcdb.2022.07.009. Epub 2022 Jul 30. Semin Cell Dev Biol. 2023. PMID: 35915025 Review.
More than 100 MCD-associated mutations have been reported in TUBA1A, TUBB2B, or TUBB3 genes, whereas fewer than ten are known in other genes such TUBB2A, TUBB or TUBG1. Although these mutations are scattered along the alpha- and beta-tubulin sequences, recurr …
More than 100 MCD-associated mutations have been reported in TUBA1A, TUBB2B, or TUBB3 genes, whereas fewer than ten are known …
TUBA1A mutation-associated lissencephaly: case report and review of the literature.
Sohal AP, Montgomery T, Mitra D, Ramesh V. Sohal AP, et al. Pediatr Neurol. 2012 Feb;46(2):127-31. doi: 10.1016/j.pediatrneurol.2011.11.017. Pediatr Neurol. 2012. PMID: 22264709 Review.
Affected children present with microcephaly, developmental delay, and early-onset epileptic seizures. Recently, de novo missense mutations in the tubulin alpha-1A (TUBA1A) gene were identified as causing a distinctive radiologic phenotype comprising of posteriorly p …
Affected children present with microcephaly, developmental delay, and early-onset epileptic seizures. Recently, de novo missense mutation
Neuronal migration disorders.
Guerrini R, Parrini E. Guerrini R, et al. Neurobiol Dis. 2010 May;38(2):154-66. doi: 10.1016/j.nbd.2009.02.008. Epub 2009 Feb 23. Neurobiol Dis. 2010. PMID: 19245832 Review.
Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological impairment. Abnormalities of the LIS1, DCX, ARX, TUBA1A and RELN genes have been associated with these malformations. ...
Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological
The genetics of lissencephaly.
Fry AE, Cushion TD, Pilz DT. Fry AE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):198-210. doi: 10.1002/ajmg.c.31402. Epub 2014 May 23. Am J Med Genet C Semin Med Genet. 2014. PMID: 24862549 Review.
Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in the developing cerebral cortex. ...This review explores the clinical presentation, radiological features, histological findings and molecular
Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in th
Genetics and biology of microcephaly and lissencephaly.
Mochida GH. Mochida GH. Semin Pediatr Neurol. 2009 Sep;16(3):120-6. doi: 10.1016/j.spen.2009.07.001. Semin Pediatr Neurol. 2009. PMID: 19778709 Free PMC article. Review.
Genetic microcephaly and lissencephaly are 2 of the most common brain malformations. Each of them is a heterogeneous group of disorders caused by mutations of many different genes. ...More recently identified genes include STIL, causing primary autosomal recessive m …
Genetic microcephaly and lissencephaly are 2 of the most common brain malformations. Each of them is a heterogeneous group of disorde …
Diffuse malformations of cortical development.
Bahi-Buisson N, Guerrini R. Bahi-Buisson N, et al. Handb Clin Neurol. 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3. Handb Clin Neurol. 2013. PMID: 23622213 Review.
DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. ...LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. ...
DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. ...LCHa is related to …
Tubulin genes and malformations of cortical development.
Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD. Romaniello R, et al. Eur J Med Genet. 2018 Dec;61(12):744-754. doi: 10.1016/j.ejmg.2018.07.012. Epub 2018 Jul 17. Eur J Med Genet. 2018. PMID: 30016746 Review.
The majority of cortical phenotypes include lissencephaly, polymicrogyria, microlissencephaly and simplified gyration. ...In the present review, all the published data on tubulin family gene mutations and the associated cortical phenotypes are summarized. In additio …
The majority of cortical phenotypes include lissencephaly, polymicrogyria, microlissencephaly and simplified gyration. ...In the pres …
Molecular genetics of neuronal migration disorders.
Liu JS. Liu JS. Curr Neurol Neurosci Rep. 2011 Apr;11(2):171-8. doi: 10.1007/s11910-010-0176-5. Curr Neurol Neurosci Rep. 2011. PMID: 21222180 Review.
Thus, the full phenotypic range of these genetic disorders is becoming apparent. Genes that cause lissencephaly, pachygyria, subcortical band heterotopia, and periventricular nodular heterotopias have been defined. Many of these genes are involved in cytoskeletal regulatio …
Thus, the full phenotypic range of these genetic disorders is becoming apparent. Genes that cause lissencephaly, pachygyria, subcorti …
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. Hebebrand M, et al. Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Orphanet J Rare Dis. 2019. PMID: 30744660 Free PMC article. Review.
BACKGROUND: The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder mostly caused by de novo variants in TUBA1A. R …
BACKGROUND: The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental del …
Mutations in alpha- and beta-tubulin encoding genes: implications in brain malformations.
Romaniello R, Arrigoni F, Bassi MT, Borgatti R. Romaniello R, et al. Brain Dev. 2015 Mar;37(3):273-80. doi: 10.1016/j.braindev.2014.06.002. Epub 2014 Jul 5. Brain Dev. 2015. PMID: 25008804 Review.
Tubulin genes play a crucial role in the mechanisms of the Central Nervous System development such as neuronal migration and axonal guidance (axon outgrowth and maintenance). Different mutations in alpha/beta-tubulin genes (TUBA1A, TUBA8, TUBB2A, TUBB4A, TUBB2B, TUB …
Tubulin genes play a crucial role in the mechanisms of the Central Nervous System development such as neuronal migration and axonal guidance …
19 results