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Journal Abstract Search

113 related items for PubMed ID: 28966590

  • 21.
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  • 23. A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization.
    Stottmann RW, Driver A, Gutierrez A, Skelton MR, Muntifering M, Stepien C, Knudson L, Kofron M, Vorhees CV, Williams MT.
    Genes Brain Behav; 2017 Feb; 16(2):250-259. PubMed ID: 27594048
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  • 25. Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review.
    Pavone P, Striano P, Cacciaguerra G, Marino SD, Parano E, Pappalardo XG, Falsaperla R, Ruggieri M.
    Front Pediatr; 2023 Feb; 11():1210272. PubMed ID: 37744437
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  • 26. 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; 54(8):765-9. PubMed ID: 22591407
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  • 30. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
    Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R.
    Eur Radiol; 2017 Dec; 27(12):5080-5092. PubMed ID: 28677066
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  • 33. The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation.
    Hoff KJ, Neumann AJ, Moore JK.
    Front Cell Neurosci; 2022 Dec; 16():1023267. PubMed ID: 36406756
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  • 34. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
    Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, Pilshofer V, Ceballos-Baumann A, Alhaddad B, Berutti R, Poewe W, Haack TB, Haslinger B, Strom TM, Winkelmann J.
    Am J Hum Genet; 2016 Dec 01; 99(6):1377-1387. PubMed ID: 27839873
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  • 35. Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
    Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H.
    Neurology; 2014 Jun 17; 82(24):2230-7. PubMed ID: 24850488
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  • 38. Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.
    Yuen YTK, Guella I, Roland E, Sargent M, Boelman C.
    BMC Med Genet; 2019 May 31; 20(1):95. PubMed ID: 31151415
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  • 39. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
    Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kühn AA, Strom TM, Vidailhet M, Bhatia KP, Dürr A, Wood NW, Brice A, Gasser T.
    Ann Neurol; 2002 Oct 31; 52(4):489-92. PubMed ID: 12325078
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