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Journal Abstract Search

302 related items for PubMed ID: 8619528

  • 1. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.
    Goldfarb LG, Vasconcelos O, Platonov FA, Lunkes A, Kipnis V, Kononova S, Chabrashvili T, Vladimirtsev VA, Alexeev VP, Gajdusek DC.
    Ann Neurol; 1996 Apr; 39(4):500-6. PubMed ID: 8619528
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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. [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 Feb; 127(5-6):157-62. PubMed ID: 10500422
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  • 4. 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; 36(7):546-8. PubMed ID: 10424816
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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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  • 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; 14(3):285-91. PubMed ID: 8896557
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  • 11. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.
    Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, Chneiweiss H, Benomar A, Lyon-Caen O, Julien J, Serdaru M, Penet C, Agid Y, Brice A.
    Ann Neurol; 1996 Apr; 39(4):490-9. PubMed ID: 8619527
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  • 12. 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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  • 13. 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; 14(3):269-76. PubMed ID: 8896555
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  • 15. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.
    Lopes-Cendes I, Maciel P, Kish S, Gaspar C, Robitaille Y, Clark HB, Koeppen AH, Nance M, Schut L, Silveira I, Coutinho P, Sequeiros J, Rouleau GA.
    Ann Neurol; 1996 Aug; 40(2):199-206. PubMed ID: 8773601
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  • 19. [Spinocerebellar ataxia: advances in genetic research and its clinical implication].
    Sasaki H.
    Hokkaido Igaku Zasshi; 1997 Jan; 72(1):13-20. PubMed ID: 9086358
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  • 20. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.
    Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi HY.
    Nat Genet; 1995 Jul; 10(3):344-50. PubMed ID: 7670474
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