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Results: 1 to 20 of 95

1.

A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

Hikita N, Hattori H, Kato M, Sakuma S, Morotomi Y, Ishida H, Seto T, Tanaka K, Shimono T, Shintaku H, Tokuhara D.

Brain Dev. 2014 Feb;36(2):159-62. doi: 10.1016/j.braindev.2013.02.006. Epub 2013 Mar 23.

PMID:
23528852
[PubMed - in process]
2.

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB.

Hum Mol Genet. 2010 Jul 15;19(14):2817-27. doi: 10.1093/hmg/ddq182. Epub 2010 May 12.

PMID:
20466733
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

TUBA1A mutation-associated lissencephaly: case report and review of the literature.

Sohal AP, Montgomery T, Mitra D, Ramesh V.

Pediatr Neurol. 2012 Feb;46(2):127-31. doi: 10.1016/j.pediatrneurol.2011.11.017. Review.

PMID:
22264709
[PubMed - indexed for MEDLINE]
4.

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

Morris-Rosendahl DJ, Najm J, Lachmeijer AM, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap MS, Schuierer G, Kutsche K, Uyanik G.

Clin Genet. 2008 Nov;74(5):425-33. doi: 10.1111/j.1399-0004.2008.01093.x.

PMID:
18954413
[PubMed - indexed for MEDLINE]
5.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J.

J Med Genet. 2008 Oct;45(10):647-53. doi: 10.1136/jmg.2008.058073. Epub 2008 Aug 26.

PMID:
18728072
[PubMed - indexed for MEDLINE]
6.

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

Fallet-Bianco C, Loeuillet L, Poirier K, Loget P, Chapon F, Pasquier L, Saillour Y, Beldjord C, Chelly J, Francis F.

Brain. 2008 Sep;131(Pt 9):2304-20. doi: 10.1093/brain/awn155. Epub 2008 Jul 18.

PMID:
18669490
[PubMed - indexed for MEDLINE]
Free Article
7.

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J.

Hum Mutat. 2007 Nov;28(11):1055-64.

PMID:
17584854
[PubMed - indexed for MEDLINE]
8.

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.

Zanni G, Colafati GS, Barresi S, Randisi F, Talamanca LF, Genovese E, Bellacchio E, Bartuli A, Bernardi B, Bertini E.

Eur J Paediatr Neurol. 2013 Jul;17(4):361-5. doi: 10.1016/j.ejpn.2012.12.006. Epub 2013 Jan 11.

PMID:
23317684
[PubMed - indexed for MEDLINE]
9.

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT.

Brain. 2013 Feb;136(Pt 2):536-48. doi: 10.1093/brain/aws338. Epub 2013 Jan 29.

PMID:
23361065
[PubMed - indexed for MEDLINE]
Free Article
10.

Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.

Mokánszki A, Körhegyi I, Szabó N, Bereg E, Gergev G, Balogh E, Bessenyei B, Sümegi A, Morris-Rosendahl DJ, Sztriha L, Oláh E.

J Child Neurol. 2012 Dec;27(12):1534-40. doi: 10.1177/0883073811436326. Epub 2012 Mar 8.

PMID:
22408144
[PubMed - indexed for MEDLINE]
11.

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.

Lecourtois M, Poirier K, Friocourt G, Jaglin X, Goldenberg A, Saugier-Veber P, Chelly J, Laquerrière A.

Acta Neuropathol. 2010 Jun;119(6):779-89. doi: 10.1007/s00401-010-0684-z. Epub 2010 Apr 8.

PMID:
20376468
[PubMed - indexed for MEDLINE]
12.

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.

Eur J Hum Genet. 2013 Apr;21(4):381-5. doi: 10.1038/ejhg.2012.195. Epub 2012 Sep 5.

PMID:
22948023
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?

Tanteles GA, Kurup B, Rauch A, Splitt MP.

Clin Dysmorphol. 2006 Apr;15(2):107-10.

PMID:
16531738
[PubMed - indexed for MEDLINE]
14.

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Fallet-Bianco C, Laquerrière A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonnière M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N.

Acta Neuropathol Commun. 2014 Jul 25;2:69. doi: 10.1186/2051-5960-2-69.

PMID:
25059107
[PubMed - in process]
Free Article
15.

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.

Tian G, Jaglin XH, Keays DA, Francis F, Chelly J, Cowan NJ.

Hum Mol Genet. 2010 Sep 15;19(18):3599-613. doi: 10.1093/hmg/ddq276. Epub 2010 Jul 5.

PMID:
20603323
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[Molecular genetics of lissencephaly and microcephaly].

Mochida GH.

Brain Nerve. 2008 Apr;60(4):437-44. Review. Japanese.

PMID:
18421985
[PubMed - indexed for MEDLINE]
17.

Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.

Shimojima K, Narita A, Maegaki Y, Saito A, Furukawa T, Yamamoto T.

BMC Res Notes. 2014 Jul 22;7:465. doi: 10.1186/1756-0500-7-465.

PMID:
25053001
[PubMed - in process]
Free PMC Article
18.

A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.

Tian G, Kong XP, Jaglin XH, Chelly J, Keays D, Cowan NJ.

Mol Biol Cell. 2008 Mar;19(3):1152-61. doi: 10.1091/mbc.E07-09-0861. Epub 2008 Jan 16.

PMID:
18199681
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.

Jang MA, Woo HI, Kim JW, Lee J, Ki CS.

Pediatr Neurol. 2013 May;48(5):411-4. doi: 10.1016/j.pediatrneurol.2012.12.033.

PMID:
23583063
[PubMed - indexed for MEDLINE]
20.

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA.

Cell Rep. 2012 Dec 27;2(6):1554-62. doi: 10.1016/j.celrep.2012.11.017. Epub 2012 Dec 13.

PMID:
23246003
[PubMed - indexed for MEDLINE]
Free PMC Article

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