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Journal Abstract Search

172 related items for PubMed ID: 23317684

  • 1.
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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. 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; 136(Pt 2):536-48. PubMed ID: 23361065
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  • 4. 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; 21(4):381-5. PubMed ID: 22948023
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  • 5. 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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  • 6. TUBA1A mutation-associated lissencephaly: case report and review of the literature.
    Sohal AP, Montgomery T, Mitra D, Ramesh V.
    Pediatr Neurol; 2012 Feb 25; 46(2):127-31. PubMed ID: 22264709
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  • 7. Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.
    Mencarelli A, Prontera P, Stangoni G, Mencaroni E, Principi N, Esposito S.
    Int J Mol Sci; 2017 Oct 29; 18(11):. PubMed ID: 29109381
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  • 8. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
    Morris-Rosendahl DJ, Najm J, Lachmeijer AM, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap MS, Schuierer G, Kutsche K, Uyanik G.
    Clin Genet; 2008 Nov 29; 74(5):425-33. PubMed ID: 18954413
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  • 9. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
    Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J.
    J Med Genet; 2008 Oct 29; 45(10):647-53. PubMed ID: 18728072
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  • 10. Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
    Weber M, Jaber D, Encha-Razavi F, Julien E, Grevoul-Fesquet J, Steffann J, Melki J, Martinovic J.
    Am J Med Genet A; 2022 Aug 29; 188(8):2331-2338. PubMed ID: 35686685
    [Abstract] [Full Text] [Related]

  • 11. TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.
    Jansen AC, Oostra A, Desprechins B, De Vlaeminck Y, Verhelst H, Régal L, Verloo P, Bockaert N, Keymolen K, Seneca S, De Meirleir L, Lissens W.
    Neurology; 2011 Mar 15; 76(11):988-92. PubMed ID: 21403111
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  • 14. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
    Fallet-Bianco C, Loeuillet L, Poirier K, Loget P, Chapon F, Pasquier L, Saillour Y, Beldjord C, Chelly J, Francis F.
    Brain; 2008 Sep 15; 131(Pt 9):2304-20. PubMed ID: 18669490
    [Abstract] [Full Text] [Related]

  • 15. A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.
    Sato T, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H.
    Brain Dev; 2018 Oct 15; 40(9):819-823. PubMed ID: 29907476
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  • 16. 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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  • 19. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
    Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB.
    Hum Mol Genet; 2010 Jul 15; 19(14):2817-27. PubMed ID: 20466733
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  • 20. TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
    Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Kurahashi H, Natsume J.
    Sci Rep; 2015 Oct 23; 5():15165. PubMed ID: 26493046
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