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182 related items for PubMed ID: 23528852

  • 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. PubMed ID: 23528852
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 22264709
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 18954413
    [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; 45(10):647-53. PubMed ID: 18728072
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 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 15; 131(Pt 9):2304-20. PubMed ID: 18669490
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 136(Pt 2):536-48. PubMed ID: 23361065
    [Abstract] [Full Text] [Related]

  • 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 15; 137(Pt 6):1676-700. PubMed ID: 24860126
    [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]

  • 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 29; 27(12):1534-40. PubMed ID: 22408144
    [Abstract] [Full Text] [Related]

  • 11. 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 29; 28(11):1055-64. PubMed ID: 17584854
    [Abstract] [Full Text] [Related]

  • 12. 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 29; 17(4):361-5. PubMed ID: 23317684
    [Abstract] [Full Text] [Related]

  • 13. 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 29; 119(6):779-89. PubMed ID: 20376468
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?
    Tanteles GA, Kurup B, Rauch A, Splitt MP.
    Clin Dysmorphol; 2006 Apr 05; 15(2):107-10. PubMed ID: 16531738
    [Abstract] [Full Text] [Related]

  • 16. TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity.
    Aiken J, Moore JK, Bates EA.
    Hum Mol Genet; 2019 Apr 15; 28(8):1227-1243. PubMed ID: 30517687
    [Abstract] [Full Text] [Related]

  • 17. The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
    Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B.
    Orphanet J Rare Dis; 2019 Feb 11; 14(1):38. PubMed ID: 30744660
    [Abstract] [Full Text] [Related]

  • 18. Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review.
    Ren S, Kong Y, Liu R, Li Q, Shen X, Kong QX.
    Front Pediatr; 2024 Feb 11; 12():1367305. PubMed ID: 38813542
    [Abstract] [Full Text] [Related]

  • 19. 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 11; 53(5):442-4. PubMed ID: 26294046
    [Abstract] [Full Text] [Related]

  • 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 11; 48(5):411-4. PubMed ID: 23583063
    [Abstract] [Full Text] [Related]

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