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Journal Abstract Search

233 related items for PubMed ID: 26564436

  • 1. 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; 37(3):528-35. PubMed ID: 26564436
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Mutations in α- and β-tubulin encoding genes: implications in brain malformations.
    Romaniello R, Arrigoni F, Bassi MT, Borgatti R.
    Brain Dev; 2015 Mar 15; 37(3):273-80. PubMed ID: 25008804
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation.
    Myers KA, Bello-Espinosa LE, Kherani A, Wei XC, Innes AM.
    Pediatr Neurol; 2015 Nov 15; 53(5):442-4. PubMed ID: 26294046
    [Abstract] [Full Text] [Related]

  • 7. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
    Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J.
    Hum Mutat; 2007 Nov 15; 28(11):1055-64. PubMed ID: 17584854
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 136(Pt 2):536-48. PubMed ID: 23361065
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 54(8):765-9. PubMed ID: 22591407
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.
    Romaniello R, Arrigoni F, Cavallini A, Tenderini E, Baschirotto C, Triulzi F, Bassi MT, Borgatti R.
    Dev Med Child Neurol; 2014 Apr 15; 56(4):354-60. PubMed ID: 24392928
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
    Fourel G, Boscheron C.
    FEBS Lett; 2020 Nov 15; 594(21):3409-3438. PubMed ID: 33064843
    [Abstract] [Full Text] [Related]

  • 14. β-Tubulinopathy caused by a mutation of the TUBB2B gene: magnetic resonance imaging findings of the brain.
    Jimenez J, Herrera DA, Vargas SA, Montoya J, Castillo M.
    Neuroradiol J; 2019 Apr 15; 32(2):148-150. PubMed ID: 30704335
    [Abstract] [Full Text] [Related]

  • 15. Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
    Amrom D, Tanyalçin I, Verhelst H, Deconinck N, Brouhard GJ, Décarie JC, Vanderhasselt T, Das S, Hamdan FF, Lissens W, Michaud JL, Jansen AC.
    Clin Genet; 2014 Feb 15; 85(2):178-83. PubMed ID: 23495813
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
    Saillour Y, Broix L, Bruel-Jungerman E, Lebrun N, Muraca G, Rucci J, Poirier K, Belvindrah R, Francis F, Chelly J.
    Hum Mol Genet; 2014 Mar 15; 23(6):1516-26. PubMed ID: 24179174
    [Abstract] [Full Text] [Related]

  • 19. Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.
    Aksel Kiliçarslan Ö, Ataman E, Gürsoy S, Gürbüz G, Ünalp A, Gençpinar P, Olgaç Dündar N, Edizer S, Ülgenalp A, Giray Bozkaya Ö.
    Turk J Med Sci; 2020 Oct 22; 50(6):1573-1579. PubMed ID: 32718119
    [Abstract] [Full Text] [Related]

  • 20. Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.
    Grønborg S, Kjaergaard S, Hove H, Larsen VA, Kirchhoff M.
    Am J Med Genet A; 2015 Nov 22; 167A(11):2731-6. PubMed ID: 26109418
    [Abstract] [Full Text] [Related]

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