These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

394 related items for PubMed ID: 12953269

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. SCA17 homozygote showing Huntington's disease-like phenotype.
    Toyoshima Y, Yamada M, Onodera O, Shimohata M, Inenaga C, Fujita N, Morita M, Tsuji S, Takahashi H.
    Ann Neurol; 2004 Feb; 55(2):281-6. PubMed ID: 14755733
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17).
    Hübner J, Sprenger A, Klein C, Hagenah J, Rambold H, Zühlke C, Kömpf D, Rolfs A, Kimmig H, Helmchen C.
    Neurology; 2007 Sep 11; 69(11):1160-8. PubMed ID: 17846415
    [Abstract] [Full Text] [Related]

  • 6. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
    Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Dürr A, Brice A.
    Ann Neurol; 2004 Jan 11; 55(1):97-104. PubMed ID: 14705117
    [Abstract] [Full Text] [Related]

  • 7. 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 11; 250(2):161-3. PubMed ID: 12574945
    [Abstract] [Full Text] [Related]

  • 8. Spinocerebellar Ataxia Type 17 (SCA17).
    Toyoshima Y, Takahashi H.
    Adv Exp Med Biol; 2018 Feb 11; 1049():219-231. PubMed ID: 29427105
    [Abstract] [Full Text] [Related]

  • 9. [SCA17, a novel polyglutamine disease caused by the expansion of polyglutamine tracts in TATA-binding protein].
    Nakamura K.
    Rinsho Shinkeigaku; 2001 Dec 11; 41(12):1123-5. PubMed ID: 12235815
    [Abstract] [Full Text] [Related]

  • 10. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.
    Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, Ikeda S, Tsuji S, Kanazawa I.
    Hum Mol Genet; 2001 Jul 01; 10(14):1441-8. PubMed ID: 11448935
    [Abstract] [Full Text] [Related]

  • 11. SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.
    Zühlke CH, Spranger M, Spranger S, Voigt R, Lanz M, Gehlken U, Hinrichs F, Schwinger E.
    Eur J Hum Genet; 2003 Aug 01; 11(8):629-32. PubMed ID: 12891385
    [Abstract] [Full Text] [Related]

  • 12. Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.
    Nanetti L, Magri S, Fichera M, Castaldo A, Nigri A, Pinardi C, Mongelli A, Sarro L, Pareyson D, Grisoli M, Gellera C, Di Bella D, Mariotti C, Taroni F.
    Mov Disord; 2023 Apr 01; 38(4):665-675. PubMed ID: 36799493
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. [Molecular genetic diagnosis and clinical analysis of spinocerebellar ataxia type 7].
    Xie QY, Liang XL, Li XH, Feng YQ.
    Di Yi Jun Yi Da Xue Xue Bao; 2004 Jan 24; 24(1):62-5. PubMed ID: 14724100
    [Abstract] [Full Text] [Related]

  • 17. Case control analysis of repeat expansion size in ataxia.
    Majounie E, Wardle M, Muzaimi M, Cross WC, Robertson NP, Williams NM, Morris HR.
    Neurosci Lett; 2007 Dec 11; 429(1):28-32. PubMed ID: 17961920
    [Abstract] [Full Text] [Related]

  • 18. [Advance in research on spinocerebellar ataxia 17].
    Zhang J, Gu W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb 11; 31(1):44-7. PubMed ID: 24510561
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 20.