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Journal Abstract Search

224 related items for PubMed ID: 14755733

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  • 2. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.
    Oda M, Maruyama H, Komure O, Morino H, Terasawa H, Izumi Y, Imamura T, Yasuda M, Ichikawa K, Ogawa M, Matsumoto M, Kawakami H.
    Arch Neurol; 2004 Feb; 61(2):209-12. PubMed ID: 14967767
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  • 3. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).
    Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schöls L, Riess O.
    Ann Neurol; 2003 Sep; 54(3):367-75. PubMed ID: 12953269
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  • 6. Spinocerebellar ataxia type 2 (SCA2) with white matter involvement.
    Armstrong J, Bonaventura I, Rojo A, González G, Corral J, Nadal N, Volpini V, Ferrer I.
    Neurosci Lett; 2005 Jun 24; 381(3):247-51. PubMed ID: 15896478
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  • 8. Focal dystonia as a presenting sign of spinocerebellar ataxia 17.
    Hagenah JM, Zühlke C, Hellenbroich Y, Heide W, Klein C.
    Mov Disord; 2004 Feb 24; 19(2):217-20. PubMed ID: 14978680
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  • 10. Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?
    Zühlke C, Gehlken U, Hellenbroich Y, Schwinger E, Bürk K.
    J Neurol; 2003 Feb 24; 250(2):161-3. PubMed ID: 12574945
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  • 12. Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion.
    Bauer PO, Matoska V, Zumrova A, Boday A, Doi H, Marikova T, Goetz P.
    J Appl Genet; 2005 Feb 24; 46(3):325-8. PubMed ID: 16110192
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  • 13. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.
    Stevanin G, Fujigasaki H, Lebre AS, Camuzat A, Jeannequin C, Dode C, Takahashi J, San C, Bellance R, Brice A, Durr A.
    Brain; 2003 Jul 24; 126(Pt 7):1599-603. PubMed ID: 12805114
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  • 14. Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene.
    Nanda A, Jackson SA, Schwankhaus JD, Metzer WS.
    Mov Disord; 2007 Feb 15; 22(3):436. PubMed ID: 17149738
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  • 15. Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
    Zühlke C, Dalski A, Schwinger E, Finckh U.
    BMC Med Genet; 2005 Jul 01; 6():27. PubMed ID: 15989694
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  • 16. Spinocerebellar Ataxia Type 17 (SCA17).
    Toyoshima Y, Takahashi H.
    Adv Exp Med Biol; 2018 Jul 01; 1049():219-231. PubMed ID: 29427105
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  • 17. Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.
    Hire RR, Katrak SM, Vaidya S, Radhakrishnan K, Seshadri M.
    Clin Genet; 2011 Nov 01; 80(5):472-7. PubMed ID: 21108634
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  • 18. A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.
    Margolis RL, O'Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, Callahan C, Hwang HS, Troncoso JC, Ross CA.
    Ann Neurol; 2001 Sep 01; 50(3):373-80. PubMed ID: 11558794
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