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Journal Abstract Search

190 related items for PubMed ID: 38813542

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  • 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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  • 4. TUBA1A mutation-associated lissencephaly: case report and review of the literature.
    Sohal AP, Montgomery T, Mitra D, Ramesh V.
    Pediatr Neurol; 2012 Feb 05; 46(2):127-31. PubMed ID: 22264709
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  • 5. 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
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  • 6. 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 05; 74(5):425-33. PubMed ID: 18954413
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  • 8. 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
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  • 11. 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
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  • 13. 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
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  • 14. 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
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  • 17. 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
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