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Journal Abstract Search

709 related items for PubMed ID: 10500422

  • 1. [Clinico-genetic study of type I spinocerebelllar ataxia].
    Svetel M, Culjković B, Sternić N, Dragasević B, Stojković I, Romac S, Kostić VS.
    Srp Arh Celok Lek; 1999; 127(5-6):157-62. PubMed ID: 10500422
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  • 4. [CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxia].
    Tang B, Xia J, Wang D, Tang X, Shen L, Liu C, Dai H, Yan X, Pan Q, Xiao J, Zhang B, Ou Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1999 Oct; 16(5):281-4. PubMed ID: 10514531
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  • 5. 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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  • 6. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.
    Ikeuchi T, Takano H, Koide R, Horikawa Y, Honma Y, Onishi Y, Igarashi S, Tanaka H, Nakao N, Sahashi K, Tsukagoshi H, Inoue K, Takahashi H, Tsuji S.
    Ann Neurol; 1997 Dec; 42(6):879-84. PubMed ID: 9403480
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  • 7. [Copy number variation of trinucleotide repeat in dynamic mutation sites of autosomal dominant cerebellar ataxias related genes].
    Chen P, Ma M, Shang H, Su D, Zhang S, Yang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Dec; 26(6):626-33. PubMed ID: 19953483
    [Abstract] [Full Text] [Related]

  • 8. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?
    Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen JT, Riess O.
    Ann Neurol; 1997 Dec; 42(6):924-32. PubMed ID: 9403486
    [Abstract] [Full Text] [Related]

  • 9. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.
    Dubourg O, Dürr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, Brice A.
    Ann Neurol; 1995 Feb; 37(2):176-80. PubMed ID: 7847859
    [Abstract] [Full Text] [Related]

  • 10. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.
    Matilla T, McCall A, Subramony SH, Zoghbi HY.
    Ann Neurol; 1995 Jul; 38(1):68-72. PubMed ID: 7611728
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  • 11. [Autosomal dominant spinocerebellar ataxia].
    Legros B, Manto MU.
    Rev Med Brux; 1999 Dec; 20(6):495-503. PubMed ID: 10672773
    [Abstract] [Full Text] [Related]

  • 12. Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.
    Lee WY, Jin DK, Oh MR, Lee JE, Song SM, Lee EA, Kim GM, Chung JS, Lee KH.
    Arch Neurol; 2003 Jun; 60(6):858-63. PubMed ID: 12810491
    [Abstract] [Full Text] [Related]

  • 13. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.
    Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C.
    Nat Genet; 1993 Jul; 4(3):295-9. PubMed ID: 8358438
    [Abstract] [Full Text] [Related]

  • 14. Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).
    Dürr A, Brice A, Lepage-Lezin A, Cancel G, Smadja D, Vernant JC, Agid Y.
    Clin Neurosci; 1995 Jul; 3(1):12-6. PubMed ID: 7614088
    [Abstract] [Full Text] [Related]

  • 15. Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.
    Silveira I, Coutinho P, Maciel P, Gaspar C, Hayes S, Dias A, Guimarães J, Loureiro L, Sequeiros J, Rouleau GA.
    Am J Med Genet; 1998 Mar 28; 81(2):134-8. PubMed ID: 9613852
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  • 16. Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations.
    Kerber KA, Jen JC, Perlman S, Baloh RW.
    J Neurol Sci; 2005 Nov 15; 238(1-2):41-5. PubMed ID: 16109427
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  • 17. [An apparently sporadic case with spinocerebellar ataxia type 1 (SCA1)].
    Futamura N, Matsumura R, Murata K, Suzumura A, Takayanagi T.
    Rinsho Shinkeigaku; 1997 Aug 15; 37(8):708-10. PubMed ID: 9404150
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  • 18. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1).
    Matsuyama Z, Izumi Y, Kameyama M, Kawakami H, Nakamura S.
    J Med Genet; 1999 Jul 15; 36(7):546-8. PubMed ID: 10424816
    [Abstract] [Full Text] [Related]

  • 19. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.
    Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V.
    Hum Genet; 1999 Jun 15; 104(6):516-22. PubMed ID: 10453742
    [Abstract] [Full Text] [Related]

  • 20. The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.
    Giunti P, Sabbadini G, Sweeney MG, Davis MB, Veneziano L, Mantuano E, Federico A, Plasmati R, Frontali M, Wood NW.
    Brain; 1998 Mar 15; 121 ( Pt 3)():459-67. PubMed ID: 9549522
    [Abstract] [Full Text] [Related]

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