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Items: 1 to 20 of 155

1.

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
2.

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
3.

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
4.

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
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
6.

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
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
8.

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
9.

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
10.

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.

Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082.

PMID:
24860126
11.

TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation.

Myers KA, Bello-Espinosa LE, Kherani A, Wei XC, Innes AM.

Pediatr Neurol. 2015 Nov;53(5):442-4. doi: 10.1016/j.pediatrneurol.2015.07.004. Epub 2015 Jul 22.

PMID:
26294046
12.

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.

13.

Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation.

Okumura A, Hayashi M, Tsurui H, Yamakawa Y, Abe S, Kudo T, Suzuki R, Shimizu T, Shimojima K, Yamamoto T.

Brain Dev. 2013 Mar;35(3):274-9. doi: 10.1016/j.braindev.2012.05.006. Epub 2012 May 26.

PMID:
22633752
14.

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.

15.

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.

16.

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.

17.

Genetic malformations of cortical development.

Guerrini R, Marini C.

Exp Brain Res. 2006 Aug;173(2):322-33. Epub 2006 May 25. Review.

PMID:
16724181
18.

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

Guerrini R, Carrozzo R.

Seizure. 2002 Apr;11 Suppl A:532-43; quiz 544-7. Review.

PMID:
12185771
19.
20.

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

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