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Journal Abstract Search

131 related items for PubMed ID: 34592644

  • 21. 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]

  • 22. A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.
    Yi S, Tang X, Chen F, Wang L, Chen J, Yang Z, Huang M, Yi S, Huang L, Yang Q, Yang S, Pan P, Qin Z, Luo J.
    Mol Genet Genomic Med; 2024 Jan 22; 12(1):e2358. PubMed ID: 38284444
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  • 23. Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.
    Schröter J, Döring JH, Garbade SF, Hoffmann GF, Kölker S, Ries M, Syrbe S.
    Genet Med; 2021 Mar 22; 23(3):516-523. PubMed ID: 33082561
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  • 24. 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 22; 188(8):2331-2338. PubMed ID: 35686685
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  • 25. TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.
    Geiger JT, Schindler AB, Blauwendraat C, Singer HS, Scholz SW.
    Case Rep Neurol; 2017 Aug 22; 9(2):216-221. PubMed ID: 28966590
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  • 26. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
    Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J.
    Nat Genet; 2009 Jun 22; 41(6):746-52. PubMed ID: 19465910
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  • 27. 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]

  • 28. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
    Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R.
    Eur Radiol; 2017 Dec 15; 27(12):5080-5092. PubMed ID: 28677066
    [Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. 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]

  • 31. A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.
    Stottmann RW, Donlin M, Hafner A, Bernard A, Sinclair DA, Beier DR.
    Hum Mol Genet; 2013 Oct 15; 22(20):4053-63. PubMed ID: 23727838
    [Abstract] [Full Text] [Related]

  • 32. 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
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