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Journal Abstract Search

492 related items for PubMed ID: 17489949

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  • 5. Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia.
    McCabe DJ, Ryan F, Moore DP, McQuaid S, King MD, Kelly A, Daly K, Barton DE, Murphy RP.
    J Neurol; 2000 May; 247(5):346-55. PubMed ID: 10896266
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  • 7. 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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  • 9. Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.
    Zühlke CH, Dalski A, Habeck M, Straube K, Hedrich K, Hoeltzenbein M, Konstanzer A, Hellenbroich Y, Schwinger E.
    Eur J Hum Genet; 2004 Nov; 12(11):979-82. PubMed ID: 15340363
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  • 11. Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
    Bartolo C, Mendell JR, Prior TW.
    Am J Med Genet; 1998 Oct 12; 79(5):396-9. PubMed ID: 9779809
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  • 12. 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 12; 6(2):82-8. PubMed ID: 16581313
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  • 16. An unusual association of a rare variant of Friedreich's ataxia with type-I neurofibromatosis in a Nigerian Fulani family: a 5-year follow-up study.
    Ahmed H, Falope ZF.
    West Afr J Med; 1999 Apr 12; 18(2):133-8. PubMed ID: 10504872
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  • 17. Early onset of Friedreich's ataxia in a compound heterozygote.
    McGovern MC, Stewart M, Morrison PJ, Webb D, Hawkins S.
    Arch Dis Child; 2000 Jul 12; 83(1):74-5. PubMed ID: 10869006
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  • 18. Mapping of mutation causing Friedreich's ataxia to human chromosome 9.
    Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura Y, von Gabain A, Farrall M, Williamson R.
    Nature; 1988 Jul 21; 334(6179):248-50. PubMed ID: 2899844
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  • 19. [Friedreich's disease in the department of neurology in Dakar].
    Ndiaye M, Ndao AK, Sene-Diouf F, Diop AG, Diagne M, Thiam A, Ndiaye MM, Ndiaye IP.
    Dakar Med; 2000 Jul 21; 45(2):151-3. PubMed ID: 15779173
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