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Journal Abstract Search

236 related items for PubMed ID: 10051016

  • 1. Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.
    García-Planells J, Cuesta A, Vilchez JJ, Martínez F, Prieto F, Palau F.
    J Med Genet; 1999 Feb; 36(2):148-51. PubMed ID: 10051016
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  • 2. Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.
    Lindquist SG, Nørremølle A, Hjermind LE, Hasholt L, Nielsen JE.
    J Neurol Sci; 2006 Feb 15; 241(1-2):95-8. PubMed ID: 16310805
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  • 3. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.
    Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P.
    Arch Neurol; 2003 Apr 15; 60(4):610-4. PubMed ID: 12707077
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  • 4. 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 15; 61(2):209-12. PubMed ID: 14967767
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  • 5. [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 15; 26(6):626-33. PubMed ID: 19953483
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  • 6. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.
    Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM.
    Ann Neurol; 2005 Mar 15; 57(3):349-54. PubMed ID: 15732118
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  • 7. [Clinical, neuropathological and genetic characteristics of spinocerebellar ataxia type 6 (SCA6)].
    Ishikawa K, Mizusawa H.
    Nihon Rinsho; 1999 Apr 15; 57(4):880-5. PubMed ID: 10222783
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  • 9. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
    Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC.
    Nat Genet; 1997 Jan 15; 15(1):62-9. PubMed ID: 8988170
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  • 10. [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 15; 16(5):281-4. PubMed ID: 10514531
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  • 11. [Autosomal dominant cerebellar ataxias in the Netherlands: a national inventory].
    van de Warrenburg BP.
    Ned Tijdschr Geneeskd; 2001 May 19; 145(20):962-7. PubMed ID: 11396263
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  • 13. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
    Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH.
    Ann Neurol; 1997 Dec 19; 42(6):933-50. PubMed ID: 9403487
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  • 17. Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12.
    Sato K, Yabe I, Fukuda Y, Soma H, Nakahara Y, Tsuji S, Sasaki H.
    Arch Neurol; 2010 Oct 19; 67(10):1257-62. PubMed ID: 20937954
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  • 19. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
    Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M.
    Hum Mol Genet; 1997 Oct 19; 6(11):1973-8. PubMed ID: 9302278
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  • 20. [A sporadic case of spinocerebellar ataxia 6 (SCA 6) with large CAG expansion of the CACNL1A4 gene].
    Izumi Y, Sawada H, Matsuyama Z, Kawakami H, Udaka F, Nakamura S, Kameyama M.
    No To Shinkei; 1999 Feb 19; 51(2):167-70. PubMed ID: 10198907
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