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Quoted phrase not found in phrase index: "Lissencephaly due to TUBA1A mutation"
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 …
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 …
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 …
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 …
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Poirier K, Saillour Y, Fourniol F, Francis F, Souville I, Valence S, Desguerre I, Marie Lepage J, Boddaert N, Line Jacquemont M, Beldjord C, Chelly J, Bahi-Buisson N. Poirier K, et al. Eur J Hum Genet. 2013 Apr;21(4):381-5. doi: 10.1038/ejhg.2012.195. Epub 2012 Sep 5. Eur J Hum Genet. 2013. PMID: 22948023 Free PMC article.
De novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders, ranging from lissencephaly to perisylvian pachygyria. Recently, one family with polymicrogyria (PMG) and mutation in TUBA1A was reported. H …
De novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders, ranging from liss …
Spectrum of brain malformations in fetuses with mild tubulinopathy.
Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C. Hagege R, et al. Ultrasound Obstet Gynecol. 2023 Jun;61(6):740-748. doi: 10.1002/uog.26140. Ultrasound Obstet Gynecol. 2023. PMID: 36484554
Minor MRI criteria were absent or asymmetric olfactory sulci, abnormal bulge of the pons, anteroposterior diameter of the pons 5(th) centile and brainstem asymmetry. A mutation was found in TUBB3 (44.1% of cases), TUBB (23.5%), TUBB2B (14.7%) or TUBA1A (17.6%). The …
Minor MRI criteria were absent or asymmetric olfactory sulci, abnormal bulge of the pons, anteroposterior diameter of the pons 5(th) centile …
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.
Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM. Kolbjer S, et al. Eur J Paediatr Neurol. 2021 Jan;30:71-81. doi: 10.1016/j.ejpn.2020.12.011. Epub 2021 Jan 8. Eur J Paediatr Neurol. 2021. PMID: 33453472
Four patients (20%) had tubulin encoding gene mutations (TUBA1A, TUBG1 and TUBGCP6). Mutations in DCX, DYNC1H1, ADGRG1 and WDR62 were identified in single patients. ...CONCLUSION: The most common genetic aetiologies in our cohort of 20 individuals with epilep …
Four patients (20%) had tubulin encoding gene mutations (TUBA1A, TUBG1 and TUBGCP6). Mutations in DCX, DYNC1H1, ADGRG1 …
Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.
Kerjan G, Gleeson JG. Kerjan G, et al. Trends Genet. 2007 Dec;23(12):623-30. doi: 10.1016/j.tig.2007.09.003. Epub 2007 Nov 8. Trends Genet. 2007. PMID: 17997185 Review.
Classical lissencephaly is a human developmental brain disorder characterized by a paucity of cortical gyration and thickening of the cortical gray matter, leading to severe epilepsy and mental retardation. Loss-of-function mutations in the microtubule-associated pr …
Classical lissencephaly is a human developmental brain disorder characterized by a paucity of cortical gyration and thickening of the …
Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.
Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P. Spalice A, et al. Acta Paediatr. 2009 Mar;98(3):421-33. doi: 10.1111/j.1651-2227.2008.01160.x. Epub 2008 Dec 16. Acta Paediatr. 2009. PMID: 19120042 Review.
Disorders of neuronal migration are a heterogeneous group of disorders of nervous system development. One of the most frequent disorders is lissencephaly, characterized by a paucity of normal gyri and sulci resulting in a 'smooth brain'. ...Six different genes could be res …
Disorders of neuronal migration are a heterogeneous group of disorders of nervous system development. One of the most frequent disorders is …
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium; Beldjord C, Chelly J. Bahi-Buisson N, et al. Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. Brain. 2014. PMID: 24860126
Among the 106 patients selected as having complex cortical malformations, 45 were found to carry mutations in TUBA1A (42.5%), 18 in TUBB2B (16.9%), 11 in TUBB3 (10.4%), three in TUBB5 (2.8%), and three in TUBG1 (2.8%). ...The core phenotype of TUBA1A and TUBG …
Among the 106 patients selected as having complex cortical malformations, 45 were found to carry mutations in TUBA1A (42.5%), …
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