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Journal Abstract Search

190 related items for PubMed ID: 38813542

  • 41. A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.
    Saidin A, Papazovska Cherepnalkovski A, Shaukat Z, Arsov T, Hussain R, Roberts BJ, Bucat M, Cogelja K, Ricos MG, Dibbens LM.
    Genes (Basel); 2024 Aug 05; 15(8):. PubMed ID: 39202391
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  • 42. 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 05; 48(5):411-4. PubMed ID: 23583063
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  • 45. Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
    Gardner JF, Cushion TD, Niotakis G, Olson HE, Grant PE, Scott RH, Stoodley N, Cohen JS, Naidu S, Attie-Bitach T, Bonnières M, Boutaud L, Encha-Razavi F, Palmer-Smith SM, Mugalaasi H, Mullins JGL, Pilz DT, Fry AE.
    Brain Sci; 2018 Aug 07; 8(8):. PubMed ID: 30087272
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  • 47. Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
    Tantry MSA, Santhakumar K.
    Mol Neurobiol; 2023 Jul 07; 60(7):3803-3823. PubMed ID: 36943622
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  • 48. 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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  • 54. The genetics of lissencephaly.
    Fry AE, Cushion TD, Pilz DT.
    Am J Med Genet C Semin Med Genet; 2014 Jun 15; 166C(2):198-210. PubMed ID: 24862549
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  • 56. Epilepsy in Tubulinopathy: Personal Series and Literature Review.
    Romaniello R, Zucca C, Arrigoni F, Bonanni P, Panzeri E, Bassi MT, Borgatti R.
    Cells; 2019 Jul 02; 8(7):. PubMed ID: 31269740
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  • 57. Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy.
    Schröter J, Syring H, Göhring G, Kölker S, Opladen T, Hoffmann GF, Syrbe S, Jung-Klawitter S.
    Stem Cell Res; 2022 Jul 02; 62():102818. PubMed ID: 35636247
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  • 58. Codon modification of Tuba1a alters mRNA levels and causes a severe neurodevelopmental phenotype in mice.
    Leca I, Phillips AW, Ushakova L, Cushion TD, Keays DA.
    Sci Rep; 2023 Jan 21; 13(1):1215. PubMed ID: 36681692
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