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Journal Abstract Search

1152 related items for PubMed ID: 8596916

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  • 25. New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.
    Monticelli A, Giacchetti M, De Biase I, Pianese L, Turano M, Pandolfo M, Cocozza S.
    Hum Genet; 2004 Apr; 114(5):458-63. PubMed ID: 14767759
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  • 27. 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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  • 28. Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates.
    Lamont PJ, Davis MB, Wood NW.
    Brain; 1997 Apr; 120 ( Pt 4)():673-80. PubMed ID: 9153129
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  • 32. Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.
    McCormack ML, Guttmann RP, Schumann M, Farmer JM, Stolle CA, Campuzano V, Koenig M, Lynch DR.
    J Neurol Neurosurg Psychiatry; 2000 May; 68(5):661-4. PubMed ID: 10766903
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  • 33. Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A).
    Ahmad I, Kamai A, Zahra S, Kapoor H, Kumar Srivastava A, Faruq M.
    Stem Cell Res; 2024 Jun; 77():103382. PubMed ID: 38484450
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  • 35. Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations.
    Pandolfo M.
    Methods Mol Med; 2006 Jun; 126():197-216. PubMed ID: 16930014
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  • 37. Origin and instability of GAA repeats: insights from Alu elements.
    Chauhan C, Dash D, Grover D, Rajamani J, Mukerji M.
    J Biomol Struct Dyn; 2002 Oct; 20(2):253-63. PubMed ID: 12354077
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  • 40. Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia.
    Houshmand M, Panahi MS, Nafisi S, Soltanzadeh A, Alkandari FM.
    Mitochondrion; 2006 Apr; 6(2):82-8. PubMed ID: 16581313
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