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326 related items for PubMed ID: 15122543

  • 1. [Spinocerebellar ataxia type 7: clinical and molecular genetic analysis of a Mexican family].
    Rolón Lacarriere O, Rasmussen Almaraz A, Hernández Cruz H, Carranza del Río J, González Cruz M, Gutiérrez Moctezuma J.
    Rev Neurol; ; 38(8):736-40. PubMed ID: 15122543
    [Abstract] [Full Text] [Related]

  • 2. [Spinocerebellar ataxia 7. Clinical and genetic investigation in an Argentine family].
    Rojas JI, Romano M, Patrucco L, Zurru MC, Igarreta P, Cristiano E.
    Medicina (B Aires); 2007; 67(2):147-50. PubMed ID: 17593599
    [Abstract] [Full Text] [Related]

  • 3. [Spinocerebellar ataxia type VII (AEC 7). Report of a Spanish family with the disease].
    Mayo D, Yusta A, Vázquez JM, García-Ruiz P, Robledo M, Benítez J.
    Rev Neurol; 2007; 28(10):964-6. PubMed ID: 10416231
    [Abstract] [Full Text] [Related]

  • 4. [Molecular genetic diagnosis and clinical analysis of spinocerebellar ataxia type 7].
    Xie QY, Liang XL, Li XH, Feng YQ.
    Di Yi Jun Yi Da Xue Xue Bao; 2004 Jan; 24(1):62-5. PubMed ID: 14724100
    [Abstract] [Full Text] [Related]

  • 5. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.
    Oda M, Maruyama H, Komure O, Morino H, Terasawa H, Izumi Y, Imamura T, Yasuda M, Ichikawa K, Ogawa M, Matsumoto M, Kawakami H.
    Arch Neurol; 2004 Feb; 61(2):209-12. PubMed ID: 14967767
    [Abstract] [Full Text] [Related]

  • 6. Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.
    Babovic-Vuksanovic D, Snow K, Patterson MC, Michels VV.
    Am J Med Genet; 1998 Oct 12; 79(5):383-7. PubMed ID: 9779806
    [Abstract] [Full Text] [Related]

  • 7. [A familial case of spinocerebellar ataxia type 8 (SCA 8)--its clinical findings and an issue about the genetic basis].
    Hokezu Y, Takiyama Y, Sakoe K, Nagamatsu K.
    Rinsho Shinkeigaku; 2000 Nov 12; 40(11):1116-21. PubMed ID: 11332193
    [Abstract] [Full Text] [Related]

  • 8. Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.
    Mutesa L, Pierquin G, Segers K, Vanbellinghen JF, Gahimbare L, Bours V.
    J Trop Pediatr; 2008 Oct 12; 54(5):350-2. PubMed ID: 18499737
    [Abstract] [Full Text] [Related]

  • 9. Focal dystonia as a presenting sign of spinocerebellar ataxia 17.
    Hagenah JM, Zühlke C, Hellenbroich Y, Heide W, Klein C.
    Mov Disord; 2004 Feb 12; 19(2):217-20. PubMed ID: 14978680
    [Abstract] [Full Text] [Related]

  • 10. Spinocerebellar ataxia type 2 in a Turkish family.
    Dirik E, Yiş U, Başak N, Soydan E, Hüdaoğlu O, Ozgönül F.
    J Child Neurol; 2007 Jul 12; 22(7):891-4. PubMed ID: 17715286
    [Abstract] [Full Text] [Related]

  • 11. Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.
    Lee WY, Jin DK, Oh MR, Lee JE, Song SM, Lee EA, Kim GM, Chung JS, Lee KH.
    Arch Neurol; 2003 Jun 12; 60(6):858-63. PubMed ID: 12810491
    [Abstract] [Full Text] [Related]

  • 12. Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable.
    Gupta SN, Marks HG.
    J Neurol Sci; 2008 Jan 15; 264(1-2):173-6. PubMed ID: 17720198
    [Abstract] [Full Text] [Related]

  • 13. Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.
    Lindquist SG, Nørremølle A, Hjermind LE, Hasholt L, Nielsen JE.
    J Neurol Sci; 2006 Feb 15; 241(1-2):95-8. PubMed ID: 16310805
    [Abstract] [Full Text] [Related]

  • 14. [Molecular analysis of the CAG repeat among patients with Type-2 spinocerebellar ataxia in the Mexican population].
    Magaña JJ, Vergara MD, Sierra-Martínez M, García-Jiménez E, Rodríguez-Antonio F, Gómez Mdel R, Valdés-Flores M, Cisneros B.
    Gac Med Mex; 2008 Feb 15; 144(5):413-8. PubMed ID: 19043961
    [Abstract] [Full Text] [Related]

  • 15. [Type 8 spinocerebellar ataxia. A report of a family].
    Sempere AP, Millán JM, Royo-Vilanova C, Medrano V.
    Rev Neurol; 2008 Feb 15; 33(2):150-2. PubMed ID: 11562876
    [Abstract] [Full Text] [Related]

  • 16. [Clinical and genetic studies of a family from Peru affected by spinocerebellar ataxia type 7].
    Castañeda MA, Avalos C, Jerí FR.
    Rev Neurol; 2008 Feb 15; 31(10):923-8. PubMed ID: 11244684
    [Abstract] [Full Text] [Related]

  • 17. [Clinico-genetic study of type I spinocerebelllar ataxia].
    Svetel M, Culjković B, Sternić N, Dragasević B, Stojković I, Romac S, Kostić VS.
    Srp Arh Celok Lek; 1999 Feb 15; 127(5-6):157-62. PubMed ID: 10500422
    [Abstract] [Full Text] [Related]

  • 18. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.
    Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A.
    Arch Neurol; 2004 Aug 15; 61(8):1242-8. PubMed ID: 15313841
    [Abstract] [Full Text] [Related]

  • 19. Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7).
    Hugosson T, Gränse L, Ponjavic V, Andréasson S.
    Ophthalmic Genet; 2009 Mar 15; 30(1):1-6. PubMed ID: 19172503
    [Abstract] [Full Text] [Related]

  • 20. Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.
    Hellenbroich Y, Bubel S, Pawlack H, Opitz S, Vieregge P, Schwinger E, Zühlke C.
    J Neurol; 2003 Jun 15; 250(6):668-71. PubMed ID: 12796826
    [Abstract] [Full Text] [Related]

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