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Journal Abstract Search

185 related items for PubMed ID: 35915025

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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 15; 137(Pt 6):1676-700. PubMed ID: 24860126
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
    Tantry MSA, Santhakumar K.
    Mol Neurobiol; 2023 Jul 25; 60(7):3803-3823. PubMed ID: 36943622
    [Abstract] [Full Text] [Related]

  • 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 25; 136(Pt 2):536-48. PubMed ID: 23361065
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Mutations in α- and β-tubulin encoding genes: implications in brain malformations.
    Romaniello R, Arrigoni F, Bassi MT, Borgatti R.
    Brain Dev; 2015 Mar 05; 37(3):273-80. PubMed ID: 25008804
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Tubulinopathies.
    Gonçalves FG, Freddi TAL, Taranath A, Lakshmanan R, Goetti R, Feltrin FS, Mankad K, Teixeira SR, Hanagandi PB, Arrigoni F.
    Top Magn Reson Imaging; 2018 Dec 15; 27(6):395-408. PubMed ID: 30516692
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 74(5):425-33. PubMed ID: 18954413
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
    Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB.
    Am J Hum Genet; 2014 Apr 03; 94(4):634-41. PubMed ID: 24702957
    [Abstract] [Full Text] [Related]

  • 15. Genetic Basis of Brain Malformations.
    Parrini E, Conti V, Dobyns WB, Guerrini R.
    Mol Syndromol; 2016 Sep 03; 7(4):220-233. PubMed ID: 27781032
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. Disorders of Microtubule Function in Neurons: Imaging Correlates.
    Mutch CA, Poduri A, Sahin M, Barry B, Walsh CA, Barkovich AJ.
    AJNR Am J Neuroradiol; 2016 Mar 15; 37(3):528-35. PubMed ID: 26564436
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.
    Laquerriere A, Gonzales M, Saillour Y, Cavallin M, Joyē N, Quēlin C, Bidat L, Dommergues M, Plessis G, Encha-Razavi F, Chelly J, Bahi-Buisson N, Poirier K.
    Eur J Med Genet; 2016 Apr 15; 59(4):249-56. PubMed ID: 26732629
    [Abstract] [Full Text] [Related]

  • 20. TUBA1A mutation-associated lissencephaly: case report and review of the literature.
    Sohal AP, Montgomery T, Mitra D, Ramesh V.
    Pediatr Neurol; 2012 Feb 15; 46(2):127-31. PubMed ID: 22264709
    [Abstract] [Full Text] [Related]

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