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PUBMED FOR HANDHELDS

Journal Abstract Search


116 related items for PubMed ID: 10543403

  • 21. Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.
    Bidichandani SI, Garcia CA, Patel PI, Dimachkie MM.
    Arch Neurol; 2000 Feb; 57(2):246-51. PubMed ID: 10681084
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  • 22. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.
    Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, Mercier J, Poirier J, Capozzoli F, Bouchard JP, Lemieux B, Mathieu J, Vanasse M, Seni MH, Graham G, Andermann F, Andermann E, Melançon SB, Keats BJ, Di Donato S, Pandolfo M.
    Ann Neurol; 1997 May; 41(5):675-82. PubMed ID: 9153531
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  • 26. Complete FXN deletion in a patient with Friedreich's ataxia.
    van den Ouweland AM, van Minkelen R, Bolman GM, Wouters CH, Becht-Noordermeer C, Deelen WH, Deelen-Manders JM, Ippel EP, Saris J, Halley DJ.
    Genet Test Mol Biomarkers; 2012 Sep; 16(9):1015-8. PubMed ID: 22691228
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  • 28. 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; 68(Pt 3):189-95. PubMed ID: 15180699
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  • 29. A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.
    Anjomani Virmouni S, Ezzatizadeh V, Sandi C, Sandi M, Al-Mahdawi S, Chutake Y, Pook MA.
    Dis Model Mech; 2015 Mar; 8(3):225-35. PubMed ID: 25681319
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  • 34. Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia.
    Colombo R, Carobene A.
    Hum Genet; 2000 Apr; 106(4):455-8. PubMed ID: 10830915
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  • 35. A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus.
    Smeyers P, Monrós E, Vílchez J, Lopez-Arlandis J, Prieto F, Palau F.
    Hum Genet; 1996 Jun; 97(6):824-8. PubMed ID: 8641704
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  • 36. GAA repeat polymorphism in Turkish Friedreich's ataxia patients.
    Yilmaz MB, Koç AF, Kasap H, Güzel AI, Sarica Y, Süleymanova D.
    Int J Neurosci; 2006 May; 116(5):565-74. PubMed ID: 16644517
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  • 37. GAA repeat instability in Friedreich ataxia YAC transgenic mice.
    Al-Mahdawi S, Pinto RM, Ruddle P, Carroll C, Webster Z, Pook M.
    Genomics; 2004 Aug; 84(2):301-10. PubMed ID: 15233994
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  • 38. Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes.
    Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, Gosselin F, Bouchard JP, Melançon SB.
    Am J Med Genet; 1996 Sep 06; 64(4):594-601. PubMed ID: 8870928
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  • 39. Atypical Presentation for Friedreich Ataxia in a Child.
    Caron E, Burns D, Castro D, Iannaccone ST.
    J Clin Neuromuscul Dis; 2015 Sep 06; 17(1):13-7. PubMed ID: 26301374
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  • 40. 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 06; 57(3):349-55. PubMed ID: 26906906
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