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Journal Abstract Search

190 related items for PubMed ID: 26739025

  • 1. A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.
    Shimojima K, Okamoto N, Yamamoto T.
    Am J Med Genet A; 2016 Apr; 170A(4):1076-9. PubMed ID: 26739025
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  • 4. 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. PubMed ID: 24860126
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  • 9. Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
    Saillour Y, Broix L, Bruel-Jungerman E, Lebrun N, Muraca G, Rucci J, Poirier K, Belvindrah R, Francis F, Chelly J.
    Hum Mol Genet; 2014 Mar 15; 23(6):1516-26. PubMed ID: 24179174
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  • 10. 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 15; 56(4):354-60. PubMed ID: 24392928
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  • 12. A Novel De Novo TUBB3 Variant Causing Developmental Delay, Epilepsy and Mild Ophthalmological Symptoms in a Chinese Child.
    Xue J, Song Z, Ma S, Yi Z, Yang C, Li F, Liu K, Zhang Y.
    J Mol Neurosci; 2022 Jan 15; 72(1):37-44. PubMed ID: 34562182
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  • 13. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
    Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM, Care4Rare Canada Consortium, O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC.
    Eur J Hum Genet; 2021 May 15; 29(5):816-826. PubMed ID: 33649541
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  • 14. 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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  • 17. 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 15; 21(4):381-5. PubMed ID: 22948023
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  • 20. Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.
    Balasubramanian R, Chew S, MacKinnon SE, Kang PB, Andrews C, Chan WM, Engle EC.
    J Clin Endocrinol Metab; 2015 Mar 15; 100(3):E473-7. PubMed ID: 25559402
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