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Journal Abstract Search

365 related items for PubMed ID: 10192387

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  • 3. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
    Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S.
    Nat Genet; 1996 Nov; 14(3):277-84. PubMed ID: 8896556
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  • 4. Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.
    Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L.
    J Neurol; 2002 Jul; 249(7):923-9. PubMed ID: 12140678
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  • 5. Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.
    Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J.
    J Appl Genet; 2004 Jul; 45(1):101-5. PubMed ID: 14960773
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  • 6. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
    Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY.
    Nat Genet; 1993 Jul; 4(3):221-6. PubMed ID: 8358429
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  • 7. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay.
    Tanaka E, Maruyama H, Morino H, Kawakami H.
    Hiroshima J Med Sci; 2011 Sep; 60(3):63-6. PubMed ID: 22053702
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  • 8. A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.
    Ikeuchi T, Sanpei K, Takano H, Sasaki H, Tashiro K, Cancel G, Brice A, Bird TD, Schellenberg GD, Pericak-Vance MA, Welsh-Bohmer KA, Clark LN, Wilhelmsen K, Tsuji S.
    Genomics; 1998 Apr 15; 49(2):321-6. PubMed ID: 9598323
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  • 9. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
    Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A.
    Nat Genet; 1996 Nov 15; 14(3):285-91. PubMed ID: 8896557
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  • 10. Spinocerebellar ataxia type 1.
    Zoghbi HY.
    Clin Neurosci; 1995 Nov 15; 3(1):5-11. PubMed ID: 7614095
    [Abstract] [Full Text] [Related]

  • 11. Giant SCA8 alleles in nine children whose mother has two moderately large ones.
    Corral J, Genís D, Banchs I, San Nicolás H, Armstrong J, Volpini V.
    Ann Neurol; 2005 Apr 15; 57(4):549-53. PubMed ID: 15786481
    [Abstract] [Full Text] [Related]

  • 12. Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia.
    Topisirovic I, Dragasevic N, Savic D, Ristic A, Keckarevic M, Keckarevic D, Culjkovic B, Petrovic I, Romac S, Kostic VS.
    Clin Genet; 2002 Oct 15; 62(4):321-4. PubMed ID: 12372061
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  • 13. Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.
    Babovic-Vuksanovic D, Snow K, Patterson MC, Michels VV.
    Am J Med Genet; 1998 Oct 12; 79(5):383-7. PubMed ID: 9779806
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  • 14. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
    David G, Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A.
    Nat Genet; 1997 Sep 12; 17(1):65-70. PubMed ID: 9288099
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  • 15. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
    Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S.
    Nat Genet; 1996 Nov 12; 14(3):269-76. PubMed ID: 8896555
    [Abstract] [Full Text] [Related]

  • 16. Do CTG expansions at the SCA8 locus cause ataxia?
    Schöls L, Bauer I, Zühlke C, Schulte T, Kölmel C, Bürk K, Topka H, Bauer P, Przuntek H, Riess O.
    Ann Neurol; 2003 Jul 12; 54(1):110-5. PubMed ID: 12838526
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  • 17. Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.
    Koob MD, Benzow KA, Bird TD, Day JW, Moseley ML, Ranum LP.
    Nat Genet; 1998 Jan 12; 18(1):72-5. PubMed ID: 9425905
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  • 18. Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.
    Juvonen V, Hietala M, Päivärinta M, Rantamäki M, Hakamies L, Kaakkola S, Vierimaa O, Penttinen M, Savontaus ML.
    Ann Neurol; 2000 Sep 12; 48(3):354-61. PubMed ID: 10976642
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  • 19. The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitations.
    Martorell L, Pujana MA, Volpini V, Sanchez A, Joven J, Vilella E, Estivill X.
    Hum Mutat; 1997 Sep 12; 10(6):486-8. PubMed ID: 9401013
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  • 20. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.
    Ikeda Y, Daughters RS, Ranum LP.
    Cerebellum; 2008 Sep 12; 7(2):150-8. PubMed ID: 18418692
    [Abstract] [Full Text] [Related]

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