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Journal Abstract Search

285 related items for PubMed ID: 8111382

  • 1. Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.
    Matilla T, Volpini V, Genís D, Rosell J, Corral J, Dávalos A, Molins A, Estivill X.
    Hum Mol Genet; 1993 Dec; 2(12):2123-8. PubMed ID: 8111382
    [Abstract] [Full Text] [Related]

  • 2. Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms.
    Genis D, Matilla T, Volpini V, Rosell J, Dávalos A, Ferrer I, Molins A, Estivill X.
    Neurology; 1995 Jan; 45(1):24-30. PubMed ID: 7824128
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  • 5. 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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  • 6. Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.
    Ranum LP, Chung MY, Banfi S, Bryer A, Schut LJ, Ramesar R, Duvick LA, McCall A, Subramony SH, Goldfarb L.
    Am J Hum Genet; 1994 Aug; 55(2):244-52. PubMed ID: 8037204
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  • 7. Spinocerebellar ataxia type 1.
    Zoghbi HY, Orr HT.
    Semin Cell Biol; 1995 Feb; 6(1):29-35. PubMed ID: 7620119
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  • 8. 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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  • 9. [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 Apr; 127(5-6):157-62. PubMed ID: 10500422
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  • 10. Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan.
    Kameya T, Abe K, Aoki M, Sahara M, Tobita M, Konno H, Itoyama Y.
    Neurology; 1995 Aug; 45(8):1587-94. PubMed ID: 7543989
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  • 11. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.
    Ranum LP, Lundgren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT.
    Am J Hum Genet; 1995 Sep; 57(3):603-8. PubMed ID: 7668288
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  • 12. An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
    Lindblad K, Savontaus ML, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek LJ, Anttinen A, Brice A, Schalling M.
    Genome Res; 1996 Oct; 6(10):965-71. PubMed ID: 8908515
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  • 13. 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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  • 14. Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South african families.
    Ramesar RS, Bardien S, Beighton P, Bryer A.
    Hum Genet; 1997 Jul; 100(1):131-7. PubMed ID: 9225982
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  • 15. Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry.
    Wakisaka A, Sasaki H, Takada A, Fukazawa T, Suzuki Y, Hamada T, Iwabuchi K, Tashiro K, Yoshiki T.
    J Med Genet; 1995 Aug; 32(8):590-2. PubMed ID: 7473647
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  • 16. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia.
    Lorenzetti D, Bohlega S, Zoghbi HY.
    Neurology; 1997 Oct; 49(4):1009-13. PubMed ID: 9339681
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  • 17. Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred.
    Ranum LP, Rich SS, Nance MA, Duvick LA, Aita JF, Orr HT, Anton-Johnson S, Schut LJ.
    Neurology; 1992 Feb; 42(2):344-7. PubMed ID: 1736163
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  • 18. Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.
    Pujana MA, Volpini V, Gratacós M, Corral J, Banchs I, Sánchez A, Genís D, Cervera C, Estivill X.
    J Med Genet; 1998 Feb; 35(2):99-102. PubMed ID: 9507387
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  • 20. Spinocerebellar ataxia type 1.
    Zoghbi HY.
    Clin Neurosci; 1995 Feb; 3(1):5-11. PubMed ID: 7614095
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