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Items: 1 to 20 of 102

1.

β-Tubulinopathy caused by a mutation of the TUBB2B gene: magnetic resonance imaging findings of the brain.

Jimenez J, Herrera DA, Vargas SA, Montoya J, Castillo M.

Neuroradiol J. 2019 Apr;32(2):148-150. doi: 10.1177/1971400919828142. Epub 2019 Feb 1.

PMID:
30704335
2.

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Romaniello R, Arrigoni F, Cavallini A, Tenderini E, Baschirotto C, Triulzi F, Bassi MT, Borgatti R.

Dev Med Child Neurol. 2014 Apr;56(4):354-60. doi: 10.1111/dmcn.12370. Epub 2014 Jan 7. Review.

3.

Tubulin genes and malformations of cortical development.

Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD.

Eur J Med Genet. 2018 Dec;61(12):744-754. doi: 10.1016/j.ejmg.2018.07.012. Epub 2018 Jul 17. Review.

PMID:
30016746
4.

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
5.

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.

Romaniello R, Tonelli A, Arrigoni F, Baschirotto C, Triulzi F, Bresolin N, Bassi MT, Borgatti R.

Dev Med Child Neurol. 2012 Aug;54(8):765-9. doi: 10.1111/j.1469-8749.2012.04316.x. Epub 2012 May 16.

6.

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.

Sato T, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H.

Brain Dev. 2018 Oct;40(9):819-823. doi: 10.1016/j.braindev.2018.05.012. Epub 2018 Jun 12.

PMID:
29907476
7.

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E.

Eur J Hum Genet. 2012 Sep;20(9):995-8. doi: 10.1038/ejhg.2012.21. Epub 2012 Feb 15.

8.

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
9.

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

Amrom D, Tanyalçin I, Verhelst H, Deconinck N, Brouhard GJ, Décarie JC, Vanderhasselt T, Das S, Hamdan FF, Lissens W, Michaud JL, Jansen AC.

Clin Genet. 2014 Feb;85(2):178-83. doi: 10.1111/cge.12141. Epub 2013 Apr 24.

PMID:
23495813
10.

Disorders of Microtubule Function in Neurons: Imaging Correlates.

Mutch CA, Poduri A, Sahin M, Barry B, Walsh CA, Barkovich AJ.

AJNR Am J Neuroradiol. 2016 Mar;37(3):528-35. doi: 10.3174/ajnr.A4552. Epub 2015 Nov 12.

11.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Oegema R, Cushion TD, Phelps IG, Chung SK, Dempsey JC, Collins S, Mullins JG, Dudding T, Gill H, Green AJ, Dobyns WB, Ishak GE, Rees MI, Doherty D.

Hum Mol Genet. 2015 Sep 15;24(18):5313-25. doi: 10.1093/hmg/ddv250. Epub 2015 Jun 30.

12.

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.

Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG.

Hum Mol Genet. 2017 Jan 15;26(2):258-269. doi: 10.1093/hmg/ddw383.

13.

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

Laquerriere A, Gonzales M, Saillour Y, Cavallin M, Joyē N, Quēlin C, Bidat L, Dommergues M, Plessis G, Encha-Razavi F, Chelly J, Bahi-Buisson N, Poirier K.

Eur J Med Genet. 2016 Apr;59(4):249-56. doi: 10.1016/j.ejmg.2015.12.007. Epub 2015 Dec 28.

14.

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
15.

Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.

Mencarelli A, Prontera P, Stangoni G, Mencaroni E, Principi N, Esposito S.

Int J Mol Sci. 2017 Oct 29;18(11). pii: E2273. doi: 10.3390/ijms18112273. Review.

16.

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC.

Am J Med Genet A. 2016 Feb;170A(2):297-305. doi: 10.1002/ajmg.a.37362. Epub 2015 Dec 6.

17.

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC.

Hum Mol Genet. 2012 Dec 15;21(26):5484-99. doi: 10.1093/hmg/dds393. Epub 2012 Sep 21.

18.

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
19.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group, van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS.

Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30.

20.

Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

Romaniello R, Arrigoni F, Bassi MT, Borgatti R.

Brain Dev. 2015 Mar;37(3):273-80. doi: 10.1016/j.braindev.2014.06.002. Epub 2014 Jul 5. Review.

PMID:
25008804

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