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Journal Abstract Search

112 related items for PubMed ID: 15376485

  • 1. Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.
    Spacey SD, Szczygielski BI, Young SP, Hukin J, Selby K, Snutch TP.
    Can J Neurol Sci; 2004 Aug; 31(3):383-6. PubMed ID: 15376485
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  • 3. 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; 59(2):296-300. PubMed ID: 11843702
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  • 5. Frataxin gene point mutations in Italian Friedreich ataxia patients.
    Gellera C, Castellotti B, Mariotti C, Mineri R, Seveso V, Didonato S, Taroni F.
    Neurogenetics; 2007 Nov; 8(4):289-99. PubMed ID: 17703324
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  • 6. Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
    Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV.
    Ann Neurol; 2016 Mar; 79(3):485-95. PubMed ID: 26704351
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  • 7. Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene.
    Badhwar A, Jansen A, Andermann F, Pandolfo M, Andermann E.
    Mov Disord; 2004 Dec; 19(12):1424-31. PubMed ID: 15514925
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  • 13. Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
    Stolle CA, Frackelton EC, McCallum J, Farmer JM, Tsou A, Wilson RB, Lynch DR.
    Mov Disord; 2008 Jul 15; 23(9):1303-6. PubMed ID: 18464277
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  • 14. [Friedreich ataxia with GAA repeat expansion: molecular mechanism and clinical feature].
    Tanaka H.
    Nihon Rinsho; 1999 Apr 15; 57(4):960-6. PubMed ID: 10222797
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  • 15. Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India.
    Chattopadhyay B, Gupta S, Gangopadhyay PK, Das SK, Roy T, Mukherjee SC, Sinha KK, Singhal BS, Bhattacharyya NP.
    Ann Hum Genet; 2004 May 15; 68(Pt 3):189-95. PubMed ID: 15180699
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  • 16. Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.
    Hoffman-Zacharska D, Mazurczak T, Zajkowski T, Tataj R, Górka-Skoczylas P, Połatyńska K, Kępczyński Ł, Stasiołek M, Bal J.
    J Appl Genet; 2016 Aug 15; 57(3):349-55. PubMed ID: 26906906
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