These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

239 related items for PubMed ID: 22591407

  • 1. 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; 54(8):765-9. PubMed ID: 22591407
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

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

  • 4. 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; 56(4):354-60. PubMed ID: 24392928
    [Abstract] [Full Text] [Related]

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

  • 6. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
    Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML, Engle EC.
    Hum Mol Genet; 2012 Dec 15; 21(26):5484-99. PubMed ID: 23001566
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. 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]

  • 10. 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]

  • 11. Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
    Tantry MSA, Santhakumar K.
    Mol Neurobiol; 2023 Jul 15; 60(7):3803-3823. PubMed ID: 36943622
    [Abstract] [Full Text] [Related]

  • 12. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
    Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J.
    Hum Mol Genet; 2010 Nov 15; 19(22):4462-73. PubMed ID: 20829227
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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]

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

  • 17. Epilepsy in Tubulinopathy: Personal Series and Literature Review.
    Romaniello R, Zucca C, Arrigoni F, Bonanni P, Panzeri E, Bassi MT, Borgatti R.
    Cells; 2019 Jul 02; 8(7):. PubMed ID: 31269740
    [Abstract] [Full Text] [Related]

  • 18. 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 02; 28(11):1055-64. PubMed ID: 17584854
    [Abstract] [Full Text] [Related]

  • 19. 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 02; 40(9):819-823. PubMed ID: 29907476
    [Abstract] [Full Text] [Related]

  • 20. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
    Tischfield MA, Cederquist GY, Gupta ML, Engle EC.
    Curr Opin Genet Dev; 2011 Jun 02; 21(3):286-94. PubMed ID: 21292473
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 12.