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Journal Abstract Search

190 related items for PubMed ID: 38813542

  • 21. Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.
    Lecourtois M, Poirier K, Friocourt G, Jaglin X, Goldenberg A, Saugier-Veber P, Chelly J, Laquerrière A.
    Acta Neuropathol; 2010 Jun; 119(6):779-89. PubMed ID: 20376468
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  • 22. 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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  • 23. Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.
    Shimojima K, Narita A, Maegaki Y, Saito A, Furukawa T, Yamamoto T.
    BMC Res Notes; 2014 Jul 22; 7():465. PubMed ID: 25053001
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  • 24. Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia.
    Zocchi R, Bellacchio E, Piccione M, Scardigli R, D'Oria V, Petrini S, Baranano K, Bertini E, Sferra A.
    Front Cell Neurosci; 2023 Jul 22; 17():1162363. PubMed ID: 37435044
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  • 25. 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 22; 21(4):381-5. PubMed ID: 22948023
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  • 26. Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy.
    Hung KL, Lu JF, Su DJ, Hsu SJ, Wang LC.
    Children (Basel); 2022 Jul 23; 9(8):. PubMed ID: 35892608
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  • 27. The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.
    Aiken J, Buscaglia G, Bates EA, Moore JK.
    J Dev Biol; 2017 Sep 23; 5(3):. PubMed ID: 29057214
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  • 28. Mutation of the α-tubulin Tuba1a leads to straighter microtubules and perturbs neuronal migration.
    Belvindrah R, Natarajan K, Shabajee P, Bruel-Jungerman E, Bernard J, Goutierre M, Moutkine I, Jaglin XH, Savariradjane M, Irinopoulou T, Poncer JC, Janke C, Francis F.
    J Cell Biol; 2017 Aug 07; 216(8):2443-2461. PubMed ID: 28687665
    [Abstract] [Full Text] [Related]

  • 29. Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.
    Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM.
    Eur J Paediatr Neurol; 2021 Jan 07; 30():71-81. PubMed ID: 33453472
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  • 30. 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 07; 188(8):2331-2338. PubMed ID: 35686685
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  • 34. 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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  • 35. Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.
    Zanni G, Colafati GS, Barresi S, Randisi F, Talamanca LF, Genovese E, Bellacchio E, Bartuli A, Bernardi B, Bertini E.
    Eur J Paediatr Neurol; 2013 Jul 23; 17(4):361-5. PubMed ID: 23317684
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  • 36. Bridging the Gap: The Importance of TUBA1A α-Tubulin in Forming Midline Commissures.
    Buscaglia G, Northington KR, Aiken J, Hoff KJ, Bates EA.
    Front Cell Dev Biol; 2021 Jul 23; 9():789438. PubMed ID: 35127710
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  • 37. Loss-of-Function Plays a Major Role in Early Neurogenesis of Tubulin α-1 A (TUBA1A) Mutation-Related Brain Malformations.
    Xie L, Huang J, Dai L, Luo J, Zhang J, Peng Q, Sun J, Zhang W.
    Mol Neurobiol; 2021 Apr 23; 58(4):1291-1302. PubMed ID: 33165829
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  • 40. Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.
    Tian G, Jaglin XH, Keays DA, Francis F, Chelly J, Cowan NJ.
    Hum Mol Genet; 2010 Sep 15; 19(18):3599-613. PubMed ID: 20603323
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