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103 related items for PubMed ID: 10416231

  • 1. [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; ; 28(10):964-6. PubMed ID: 10416231
    [Abstract] [Full Text] [Related]

  • 2. [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]

  • 3. 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]

  • 4. Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion.
    Bauer PO, Matoska V, Zumrova A, Boday A, Doi H, Marikova T, Goetz P.
    J Appl Genet; 2005 Feb; 46(3):325-8. PubMed ID: 16110192
    [Abstract] [Full Text] [Related]

  • 5. [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 Feb; 67(2):147-50. PubMed ID: 17593599
    [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. The parkinsonian phenotype of spinocerebellar ataxia type 2.
    Lu CS, Wu Chou YH, Kuo PC, Chang HC, Weng YH.
    Arch Neurol; 2004 Jan 12; 61(1):35-8. PubMed ID: 14732617
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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]

  • 10. 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 12; 250(6):668-71. PubMed ID: 12796826
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Fluorescent multiplex PCR--fast method for autosomal dominant spinocerebellar ataxias screening.
    Bauer PO, Kotliarova SE, Matoska V, Musova Z, Hedvicakova P, Boday A, Tomek A, Nukina N, Goetz P.
    Genetika; 2005 Jun 15; 41(6):830-7. PubMed ID: 16080609
    [Abstract] [Full Text] [Related]

  • 13. Identification of CAG repeat-containing genes expressed in human brain as candidate genes for autosomal dominant spinocerebellar ataxias and other neurodegenerative diseases.
    Tachikawa M, Nagai Y, Nakamura K, Kobayashi K, Fujiwara T, Han HJ, Nakabayashi Y, Ichikawa Y, Goto J, Kanazawa I, Nakamura Y, Toda T.
    J Hum Genet; 2002 Jun 15; 47(6):275-8. PubMed ID: 12111376
    [Abstract] [Full Text] [Related]

  • 14. Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis.
    Infante J, Combarros O, Volpini V, Corral J, Llorca J, Berciano J.
    Acta Neurol Scand; 2005 Jun 15; 111(6):391-9. PubMed ID: 15876341
    [Abstract] [Full Text] [Related]

  • 15. [Clinical features of autosomal dominant spinocerebellar ataxias genetically unclassified into any known triplet-repeat diseases].
    Aoki K, Kawata A, Suda M, Hirai S.
    Rinsho Shinkeigaku; 2001 Jan 15; 41(1):18-23. PubMed ID: 11433762
    [Abstract] [Full Text] [Related]

  • 16. [Clinical characteristics and molecular biology of hereditary spinocerebellar ataxia type 7: study of 3 Chinese families].
    Song XW, Tang BS, Jiang H, Shen L, Yang Q, Liao SS, Li QH, Liang XC, Tang JG.
    Zhonghua Yi Xue Za Zhi; 2006 Jul 04; 86(25):1755-8. PubMed ID: 17054842
    [Abstract] [Full Text] [Related]

  • 17. Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7).
    Hugosson T, Gränse L, Ponjavic V, Andréasson S.
    Ophthalmic Genet; 2009 Mar 04; 30(1):1-6. PubMed ID: 19172503
    [Abstract] [Full Text] [Related]

  • 18. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
    Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Dürr A, Brice A.
    Ann Neurol; 2004 Jan 04; 55(1):97-104. PubMed ID: 14705117
    [Abstract] [Full Text] [Related]

  • 19. [Clinical and genetic studies of a family from Peru affected by spinocerebellar ataxia type 7].
    Castañeda MA, Avalos C, Jerí FR.
    Rev Neurol; 2004 Jan 04; 31(10):923-8. PubMed ID: 11244684
    [Abstract] [Full Text] [Related]

  • 20. [Type 8 spinocerebellar ataxia. A report of a family].
    Sempere AP, Millán JM, Royo-Vilanova C, Medrano V.
    Rev Neurol; 2004 Jan 04; 33(2):150-2. PubMed ID: 11562876
    [Abstract] [Full Text] [Related]

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