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Journal Abstract Search

99 related items for PubMed ID: 15514925

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations.
    Pandolfo M.
    Methods Mol Med; 2006 Dec; 126():197-216. PubMed ID: 16930014
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
    Zhu D, Burke C, Leslie A, Nicholson GA.
    Mov Disord; 2002 May; 17(3):585-9. PubMed ID: 12112211
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Friedreich's ataxia: clinical heterogeneity in two sisters.
    Armani M, Zortea M, Pastorello E, Lombardi S, Tonello S, Zuliani L, Rigoni MT, Trevisan CP.
    Neurol Sci; 2006 Jun 15; 27(2):140-2. PubMed ID: 16816915
    [Abstract] [Full Text] [Related]

  • 9. Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.
    McDaniel DO, Keats B, Vedanarayanan VV, Subramony SH.
    Mov Disord; 2001 Nov 15; 16(6):1153-8. PubMed ID: 11748752
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 59(2):296-300. PubMed ID: 11843702
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 12. 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 12; 247(5):346-55. PubMed ID: 10896266
    [Abstract] [Full Text] [Related]

  • 13. Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene.
    Klopstock T, Chahrokh-Zadeh S, Holinski-Feder E, Meindl A, Gasser T, Pongratz D, Müller-Felber W.
    Acta Neuropathol; 1999 Feb 12; 97(2):139-42. PubMed ID: 9928824
    [Abstract] [Full Text] [Related]

  • 14. [Unusual molecular changes in two families with Friedreich's ataxia].
    González MC, Díaz-Golpe V, Hernández L, Martin S, Fernández F.
    Neurologia; 2003 Sep 12; 18(7):392-5. PubMed ID: 14505249
    [Abstract] [Full Text] [Related]

  • 15. Uncommon features in Cuban families affected with Friedreich ataxia.
    Cruz-Mariño T, González-Zaldivar Y, Laffita-Mesa JM, Almaguer-Mederos L, Aguilera-Rodríguez R, Almaguer-Gotay D, Rodríguez-Labrada R, Canales-Ochoa N, Macleod P, Velázquez-Pérez L.
    Neurosci Lett; 2010 Mar 19; 472(2):85-9. PubMed ID: 20109528
    [Abstract] [Full Text] [Related]

  • 16. 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 19; 12(11):979-82. PubMed ID: 15340363
    [Abstract] [Full Text] [Related]

  • 17. 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 19; 68(Pt 3):189-95. PubMed ID: 15180699
    [Abstract] [Full Text] [Related]

  • 18. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature.
    Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH.
    Arch Neurol; 2005 Dec 19; 62(12):1865-9. PubMed ID: 16344344
    [Abstract] [Full Text] [Related]

  • 19. Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset.
    Lamba LD, Ciotti P, Giribaldi G, Di Maria E, Varese A, Di Stadio M, Schenone A, Mandich P, Bellone E.
    Eur Neurol; 2009 Dec 19; 61(4):240-3. PubMed ID: 19182486
    [No Abstract] [Full Text] [Related]

  • 20. Friedreich's ataxia: a clinical and genetic analysis.
    Reddy PL, Grewal RP.
    Clin Neurol Neurosurg; 2007 Feb 19; 109(2):200-2. PubMed ID: 17049722
    [Abstract] [Full Text] [Related]

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