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Journal Abstract Search

113 related items for PubMed ID: 28966590

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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. 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
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  • 6. De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.
    Laquerriere A, Gonzales M, Saillour Y, Cavallin M, Joyē N, Quēlin C, Bidat L, Dommergues M, Plessis G, Encha-Razavi F, Chelly J, Bahi-Buisson N, Poirier K.
    Eur J Med Genet; 2016 Apr; 59(4):249-56. PubMed ID: 26732629
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  • 8. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
    Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG.
    Hum Mol Genet; 2017 Jan 15; 26(2):258-269. PubMed ID: 28013290
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  • 14. ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
    Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH.
    Neurology; 2015 Dec 08; 85(23):2026-35. PubMed ID: 26537056
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  • 20. The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
    Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B.
    Orphanet J Rare Dis; 2019 Feb 11; 14(1):38. PubMed ID: 30744660
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