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Journal Abstract Search

179 related items for PubMed ID: 26301374

  • 1. Atypical Presentation for Friedreich Ataxia in a Child.
    Caron E, Burns D, Castro D, Iannaccone ST.
    J Clin Neuromuscul Dis; 2015 Sep; 17(1):13-7. PubMed ID: 26301374
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 3. Exonic deletions of FXN and early-onset Friedreich ataxia.
    Anheim M, Mariani LL, Calvas P, Cheuret E, Zagnoli F, Odent S, Seguela C, Marelli C, Fritsch M, Delaunoy JP, Brice A, Dürr A, Koenig M.
    Arch Neurol; 2012 Jul; 69(7):912-6. PubMed ID: 22409940
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  • 4. 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; 57(3):349-55. PubMed ID: 26906906
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  • 5. 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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  • 6. 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 15; 16(9):1015-8. PubMed ID: 22691228
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  • 8. 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 15; 79(3):485-95. PubMed ID: 26704351
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  • 11. Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation.
    Verma R, Gupta M.
    BMJ Case Rep; 2012 Dec 14; 2012():. PubMed ID: 23242090
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  • 12. Clinical features of Friedreich ataxia.
    Delatycki MB, Corben LA.
    J Child Neurol; 2012 Sep 14; 27(9):1133-7. PubMed ID: 22752493
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  • 14. Molecular and clinical investigation of Iranian patients with Friedreich ataxia.
    Salehi MH, Houshmand M, Aryani O, Kamalidehghan B, Khalili E.
    Iran Biomed J; 2014 Sep 14; 18(1):28-33. PubMed ID: 24375160
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  • 15. Clinical and Molecular Features of First Mexican Friedreich's Ataxia Patients with Compound Heterozygous FXN Mutations.
    Boll MC, Gasca-Saldaña D, Mayén-Lobo YG, Dávila-Ortiz de Montellano DJ, Monroy-Jaramillo N.
    Neurol India; 2021 Sep 14; 69(5):1363-1367. PubMed ID: 34747814
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  • 16. Friedreich's ataxia presenting as adult-onset spastic paraparesis.
    Gates PC, Paris D, Forrest SM, Williamson R, Gardner RJ.
    Neurogenetics; 1998 Aug 14; 1(4):297-9. PubMed ID: 10732807
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