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Journal Abstract Search

157 related items for PubMed ID: 33082561

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  • 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; 137(Pt 6):1676-700. PubMed ID: 24860126
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  • 4. 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
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  • 6. Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
    Schröter J, Popp B, Brennenstuhl H, Döring JH, Donze SH, Bijlsma EK, van Haeringen A, Huhle D, Jestaedt L, Merkenschlager A, Arelin M, Gräfe D, Neuser S, Oates S, Pal DK, Parker MJ, Lemke JR, Hoffmann GF, Kölker S, Harting I, Syrbe S.
    Eur J Hum Genet; 2022 Mar 22; 30(3):298-306. PubMed ID: 35017693
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  • 7. 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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  • 9. 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
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  • 11. 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
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  • 12. Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review.
    Ren S, Kong Y, Liu R, Li Q, Shen X, Kong QX.
    Front Pediatr; 2024 Feb 25; 12():1367305. PubMed ID: 38813542
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  • 14. Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy.
    Hung KL, Lu JF, Su DJ, Hsu SJ, Wang LC.
    Children (Basel); 2022 Jul 23; 9(8):. PubMed ID: 35892608
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  • 16. A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.
    Dekker J, Diderich KEM, Schot R, Husen SC, Dremmen MHG, Go ATJI, Weerts MJA, van Slegtenhorst MA, Mancini GMS.
    Eur J Paediatr Neurol; 2021 Nov 23; 35():35-39. PubMed ID: 34592644
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  • 17. Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.
    Aiken J, Buscaglia G, Aiken AS, Moore JK, Bates EA.
    Cytoskeleton (Hoboken); 2020 Mar 23; 77(3-4):40-54. PubMed ID: 31574570
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  • 18. Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy.
    Schröter J, Syring H, Göhring G, Kölker S, Opladen T, Hoffmann GF, Syrbe S, Jung-Klawitter S.
    Stem Cell Res; 2022 Jul 23; 62():102818. PubMed ID: 35636247
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  • 19. A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.
    Saidin A, Papazovska Cherepnalkovski A, Shaukat Z, Arsov T, Hussain R, Roberts BJ, Bucat M, Cogelja K, Ricos MG, Dibbens LM.
    Genes (Basel); 2024 Aug 05; 15(8):. PubMed ID: 39202391
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  • 20. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
    Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM, Care4Rare Canada Consortium, O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC.
    Eur J Hum Genet; 2021 May 05; 29(5):816-826. PubMed ID: 33649541
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