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312 related items for PubMed ID: 17357132

  • 1. Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.
    Nozaki H, Ikeuchi T, Kawakami A, Kimura A, Koide R, Tsuchiya M, Nakmura Y, Mutoh T, Yamamoto H, Nakao N, Sahashi K, Nishizawa M, Onodera O.
    Mov Disord; 2007 Apr 30; 22(6):857-62. PubMed ID: 17357132
    [Abstract] [Full Text] [Related]

  • 2. 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.
    Ouyang Y, Sakoe K, Shimazaki H, Namekawa M, Ogawa T, Ando Y, Kawakami T, Kaneko J, Hasegawa Y, Yoshizawa K, Amino T, Ishikawa K, Mizusawa H, Nakano I, Takiyama Y.
    J Neurol Sci; 2006 Sep 25; 247(2):180-6. PubMed ID: 16780885
    [Abstract] [Full Text] [Related]

  • 3. Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.
    Hirano R, Takashima H, Okubo R, Okamoto Y, Maki Y, Ishida S, Suehara M, Hokezu Y, Arimura K.
    J Hum Genet; 2009 Jul 25; 54(7):377-81. PubMed ID: 19444286
    [Abstract] [Full Text] [Related]

  • 4. Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese.
    Onodera Y, Aoki M, Mizuno H, Warita H, Shiga Y, Itoyama Y.
    Neurology; 2006 Oct 10; 67(7):1300-2. PubMed ID: 17030774
    [Abstract] [Full Text] [Related]

  • 5. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.
    Ikeuchi T, Takano H, Koide R, Horikawa Y, Honma Y, Onishi Y, Igarashi S, Tanaka H, Nakao N, Sahashi K, Tsukagoshi H, Inoue K, Takahashi H, Tsuji S.
    Ann Neurol; 1997 Dec 10; 42(6):879-84. PubMed ID: 9403480
    [Abstract] [Full Text] [Related]

  • 6. Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan.
    Hayashi M, Adachi Y, Mori M, Nakano T, Nakashima K.
    Acta Neurol Scand; 2007 Aug 10; 116(2):123-7. PubMed ID: 17661799
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 60(6):858-63. PubMed ID: 12810491
    [Abstract] [Full Text] [Related]

  • 8. Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan.
    Yoshida K, Shimizu Y, Morita H, Okano T, Sakai H, Ohata T, Matsumoto N, Nakamura K, Tazawa K, Ohara S, Tabata K, Inoue A, Sato S, Shimojima Y, Hattori T, Ushiyama M, Ikeda S.
    Cerebellum; 2009 Mar 10; 8(1):46-51. PubMed ID: 18855094
    [Abstract] [Full Text] [Related]

  • 9. [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 10; 41(1):18-23. PubMed ID: 11433762
    [Abstract] [Full Text] [Related]

  • 10. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.
    Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H.
    Am J Hum Genet; 2005 Aug 10; 77(2):280-96. PubMed ID: 16001362
    [Abstract] [Full Text] [Related]

  • 11. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
    Hiramoto K, Kawakami H, Inoue K, Seki T, Maruyama H, Morino H, Matsumoto M, Kurisu K, Sakai N.
    Mov Disord; 2006 Sep 10; 21(9):1355-60. PubMed ID: 16763984
    [Abstract] [Full Text] [Related]

  • 12. Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?
    Sura T, Eu-Ahsunthornwattana J, Youngcharoen S, Busabaratana M, Dejsuphong D, Trachoo O, Theerasasawat S, Tunteeratum A, Noparutchanodom C, Tunlayadechanont S.
    J Hum Genet; 2009 May 10; 54(5):284-8. PubMed ID: 19329990
    [Abstract] [Full Text] [Related]

  • 13. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.
    Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM.
    Ann Neurol; 2005 Mar 10; 57(3):349-54. PubMed ID: 15732118
    [Abstract] [Full Text] [Related]

  • 14. [Molecular and clinical features in spinocerebellar ataxia type 6 (SCA6) in Japanese].
    Ikeuchi T.
    Nihon Rinsho; 1999 Apr 10; 57(4):891-5. PubMed ID: 10222785
    [Abstract] [Full Text] [Related]

  • 15. [Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia].
    Zhou Y, Song X, Yi J, Jiang H, Wang J, Liao S, Tang B.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Dec 10; 25(6):646-8. PubMed ID: 19065522
    [Abstract] [Full Text] [Related]

  • 16. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).
    Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schöls L, Riess O.
    Ann Neurol; 2003 Sep 10; 54(3):367-75. PubMed ID: 12953269
    [Abstract] [Full Text] [Related]

  • 17. 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 10; 55(1):97-104. PubMed ID: 14705117
    [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 10; 61(8):1242-8. PubMed ID: 15313841
    [Abstract] [Full Text] [Related]

  • 19. A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.
    Ohata T, Yoshida K, Sakai H, Hamanoue H, Mizuguchi T, Shimizu Y, Okano T, Takada F, Ishikawa K, Mizusawa H, Yoshiura KI, Fukushima Y, Ikeda SI, Matsumoto N.
    J Hum Genet; 2006 Aug 10; 51(5):461-466. PubMed ID: 16614795
    [Abstract] [Full Text] [Related]

  • 20. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients.
    Maruyama H, Izumi Y, Morino H, Oda M, Toji H, Nakamura S, Kawakami H.
    Am J Med Genet; 2002 Jul 08; 114(5):578-83. PubMed ID: 12116198
    [Abstract] [Full Text] [Related]

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