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Journal Abstract Search

151 related items for PubMed ID: 9486868

  • 1. A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism.
    Machkhas H, Bidichandani SI, Patel PI, Harati Y.
    Muscle Nerve; 1998 Mar; 21(3):390-3. PubMed ID: 9486868
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  • 8. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
    Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M.
    Science; 1996 Mar 08; 271(5254):1423-7. PubMed ID: 8596916
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  • 9. Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.
    Montermini L, Kish SJ, Jiralerspong S, Lamarche JB, Pandolfo M.
    Neurology; 1997 Aug 08; 49(2):606-10. PubMed ID: 9270608
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  • 10. Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.
    McCabe DJ, Wood NW, Ryan F, Hanna MG, Connolly S, Moore DP, Redmond J, Barton DE, Murphy RP.
    Arch Neurol; 2002 Feb 08; 59(2):296-300. PubMed ID: 11843702
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  • 11. Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.
    Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, Harati Y, Gibbs RA, Ashizawa T, Patel PI.
    Hum Mol Genet; 1999 Dec 08; 8(13):2425-36. PubMed ID: 10556290
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  • 12. Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene.
    De Michele G, Filla A, Cavalcanti F, Tammaro A, Monticelli A, Pianese L, Di Salle F, Perreti A, Santoro L, Caruso G, Cocozza S.
    Neurology; 2000 Jan 25; 54(2):496-9. PubMed ID: 10668723
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  • 13. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
    Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, Pianese L, Iodice L, Farina G, Monticelli A, Turano M, Filla A, De Michele G, Cocozza S.
    Hum Mol Genet; 1997 Aug 25; 6(8):1261-6. PubMed ID: 9259271
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  • 14. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene.
    Epplen C, Epplen JT, Frank G, Miterski B, Santos EJ, Schöls L.
    Hum Genet; 1997 Jun 25; 99(6):834-6. PubMed ID: 9187683
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  • 15. Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.
    De Michele G, Cavalcanti F, Criscuolo C, Pianese L, Monticelli A, Filla A, Cocozza S.
    Hum Mol Genet; 1998 Nov 25; 7(12):1901-6. PubMed ID: 9811933
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  • 16. Locus heterogeneity in Friedreich ataxia.
    Kostrzewa M, Klockgether T, Damian MS, Müller U.
    Neurogenetics; 1997 May 25; 1(1):43-7. PubMed ID: 10735274
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  • 17. Clinical and genetic study of Friedreich ataxia in an Australian population.
    Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, MacMillan JC, Collins V, Williamson R, Forrest SM.
    Am J Med Genet; 1999 Nov 19; 87(2):168-74. PubMed ID: 10533031
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  • 18. Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia.
    Berciano J, Mateo I, De Pablos C, Polo JM, Combarros O.
    J Neurol Sci; 2002 Feb 15; 194(1):75-82. PubMed ID: 11809170
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  • 19. The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions.
    Sharma R, Bhatti S, Gomez M, Clark RM, Murray C, Ashizawa T, Bidichandani SI.
    Hum Mol Genet; 2002 Sep 01; 11(18):2175-87. PubMed ID: 12189170
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  • 20. Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia.
    Colombo R, Carobene A.
    Hum Genet; 2000 Apr 01; 106(4):455-8. PubMed ID: 10830915
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