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Journal Abstract Search

159 related items for PubMed ID: 30704335

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  • 5. Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.
    Aksel Kiliçarslan Ö, Ataman E, Gürsoy S, Gürbüz G, Ünalp A, Gençpinar P, Olgaç Dündar N, Edizer S, Ülgenalp A, Giray Bozkaya Ö.
    Turk J Med Sci; 2020 Oct 22; 50(6):1573-1579. PubMed ID: 32718119
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  • 6. 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 22; 54(8):765-9. PubMed ID: 22591407
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  • 8. A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.
    Dekker J, Diderich KEM, Schot R, Husen SC, Dremmen MHG, Go ATJI, Weerts MJA, van Slegtenhorst MA, Mancini GMS.
    Eur J Paediatr Neurol; 2021 Nov 22; 35():35-39. PubMed ID: 34592644
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  • 12. 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 22; 85(2):178-83. PubMed ID: 23495813
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  • 16. 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. PubMed ID: 28013290
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  • 17. TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
    Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini MV, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A.
    Am J Med Genet A; 2020 Aug 15; 182(8):1977-1984. PubMed ID: 32573066
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  • 19. A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development.
    Shen R, Zhang Z, Zhuang Y, Yang X, Duan L.
    Biomed Res Int; 2021 Aug 15; 2021():6644274. PubMed ID: 33728335
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