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Journal Abstract Search

202 related items for PubMed ID: 26493046

  • 1. TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
    Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Kurahashi H, Natsume J.
    Sci Rep; 2015 Oct 23; 5():15165. PubMed ID: 26493046
    [Abstract] [Full Text] [Related]

  • 2. TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics.
    Hoff KJ, Aiken JE, Gutierrez MA, Franco SJ, Moore JK.
    Elife; 2022 May 05; 11():. PubMed ID: 35511030
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  • 3. 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 05; 136(Pt 2):536-48. PubMed ID: 23361065
    [Abstract] [Full Text] [Related]

  • 4. 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 05; 45(10):647-53. PubMed ID: 18728072
    [Abstract] [Full Text] [Related]

  • 5. 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 05; 137(Pt 6):1676-700. PubMed ID: 24860126
    [Abstract] [Full Text] [Related]

  • 6. 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 05; 21(4):381-5. PubMed ID: 22948023
    [Abstract] [Full Text] [Related]

  • 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 05; 28(11):1055-64. PubMed ID: 17584854
    [Abstract] [Full Text] [Related]

  • 8. 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 05; 131(Pt 9):2304-20. PubMed ID: 18669490
    [Abstract] [Full Text] [Related]

  • 9. 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):. PubMed ID: 29109381
    [Abstract] [Full Text] [Related]

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  • 13. 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. PubMed ID: 20603323
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  • 15. 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. PubMed ID: 20466733
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  • 16. Loss-of-Function Plays a Major Role in Early Neurogenesis of Tubulin α-1 A (TUBA1A) Mutation-Related Brain Malformations.
    Xie L, Huang J, Dai L, Luo J, Zhang J, Peng Q, Sun J, Zhang W.
    Mol Neurobiol; 2021 Apr 15; 58(4):1291-1302. PubMed ID: 33165829
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  • 18. 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. PubMed ID: 26130693
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  • 19. 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 15; 36(2):159-62. PubMed ID: 23528852
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