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Journal Abstract Search

172 related items for PubMed ID: 23317684

  • 21. [Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].
    Bahi-Buisson N, Boddaert N, Saillour Y, Souville I, Poirier K, Léger PL, Castelnau L, Plouin P, Carion N, Beldjord C, Chelly J.
    Rev Neurol (Paris); 2008 Dec; 164(12):995-1009. PubMed ID: 18808783
    [Abstract] [Full Text] [Related]

  • 22. 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; 53(5):442-4. PubMed ID: 26294046
    [Abstract] [Full Text] [Related]

  • 23. De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.
    Wang H, Li S, Li S, Jiang N, Guo J, Zhang W, Zhong M, Xie J.
    Fetal Pediatr Pathol; 2019 Feb; 38(1):63-71. PubMed ID: 30585108
    [Abstract] [Full Text] [Related]

  • 24. Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation.
    Okumura A, Hayashi M, Tsurui H, Yamakawa Y, Abe S, Kudo T, Suzuki R, Shimizu T, Shimojima K, Yamamoto T.
    Brain Dev; 2013 Mar; 35(3):274-9. PubMed ID: 22633752
    [Abstract] [Full Text] [Related]

  • 25. 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; 61(12):744-754. PubMed ID: 30016746
    [Abstract] [Full Text] [Related]

  • 26. 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]

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  • 28. 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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  • 30. 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 22; 56(4):354-60. PubMed ID: 24392928
    [Abstract] [Full Text] [Related]

  • 31. Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.
    Mokánszki A, Körhegyi I, Szabó N, Bereg E, Gergev G, Balogh E, Bessenyei B, Sümegi A, Morris-Rosendahl DJ, Sztriha L, Oláh E.
    J Child Neurol; 2012 Dec 22; 27(12):1534-40. PubMed ID: 22408144
    [Abstract] [Full Text] [Related]

  • 32. 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 22; 54(8):765-9. PubMed ID: 22591407
    [Abstract] [Full Text] [Related]

  • 33. 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
    [Abstract] [Full Text] [Related]

  • 34. 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
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  • 36. 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]

  • 37. DTI tractography of lissencephaly caused by TUBA1A mutation.
    Kamiya K, Tanaka F, Ikeno M, Okumura A, Aoki S.
    Neurol Sci; 2014 May 15; 35(5):801-3. PubMed ID: 24510153
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  • 39. 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 15; 30():71-81. PubMed ID: 33453472
    [Abstract] [Full Text] [Related]

  • 40. 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]

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