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Journal Abstract Search

346 related items for PubMed ID: 36943622

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  • 2. 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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  • 3. Tubulin mutations in human neurodevelopmental disorders.
    Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB.
    Semin Cell Dev Biol; 2023 Mar 15; 137():87-95. PubMed ID: 35915025
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  • 4. Tubulin genes and malformations of cortical development.
    Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD.
    Eur J Med Genet; 2018 Dec 15; 61(12):744-754. PubMed ID: 30016746
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  • 5. 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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  • 6. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
    Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT.
    Brain; 2013 Feb 05; 136(Pt 2):536-48. PubMed ID: 23361065
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  • 7. 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 05; 54(8):765-9. PubMed ID: 22591407
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  • 8. Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
    Fallet-Bianco C, Laquerrière A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonnière M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N.
    Acta Neuropathol Commun; 2014 Jul 25; 2():69. PubMed ID: 25059107
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  • 9. Mutations in α- and β-tubulin encoding genes: implications in brain malformations.
    Romaniello R, Arrigoni F, Bassi MT, Borgatti R.
    Brain Dev; 2015 Mar 25; 37(3):273-80. PubMed ID: 25008804
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  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.
    Aiken J, Buscaglia G, Aiken AS, Moore JK, Bates EA.
    Cytoskeleton (Hoboken); 2020 Mar 15; 77(3-4):40-54. PubMed ID: 31574570
    [Abstract] [Full Text] [Related]

  • 15. Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations.
    Park K, Hoff KJ, Wethekam L, Stence N, Saenz M, Moore JK.
    Front Cell Dev Biol; 2021 Mar 15; 9():765992. PubMed ID: 34869359
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  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case.
    Srivastava P, Swaroop S, Diwakar K, Jaiswal A, Singh M.
    Cureus; 2024 Jun 15; 16(6):e62749. PubMed ID: 38912084
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  • 20. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
    Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R, Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P.
    Am J Hum Genet; 2019 Nov 07; 105(5):1005-1015. PubMed ID: 31630790
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