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Journal Abstract Search

160 related items for PubMed ID: 16614795

  • 1. 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; 51(5):461-466. PubMed ID: 16614795
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  • 2. 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; 8(1):46-51. PubMed ID: 18855094
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  • 3. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.
    Amino T, Ishikawa K, Toru S, Ishiguro T, Sato N, Tsunemi T, Murata M, Kobayashi K, Inazawa J, Toda T, Mizusawa H.
    J Hum Genet; 2007 Mar; 52(8):643-649. PubMed ID: 17611710
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  • 7. Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.
    Wieczorek S, Arning L, Alheite I, Epplen JT.
    J Hum Genet; 2006 Mar; 51(4):363-367. PubMed ID: 16491300
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  • 8. 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; 116(2):123-7. PubMed ID: 17661799
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  • 9. 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
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  • 11. [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 30; 25(6):646-8. PubMed ID: 19065522
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  • 13. 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 30; 54(7):377-81. PubMed ID: 19444286
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  • 14. Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.
    Basri R, Yabe I, Soma H, Sasaki H.
    J Hum Genet; 2007 Jul 30; 52(10):848-855. PubMed ID: 17805477
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  • 15. Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan.
    Li M, Ishikawa K, Toru S, Tomimitsu H, Takashima M, Goto J, Takiyama Y, Sasaki H, Imoto I, Inazawa J, Toda T, Kanazawa I, Mizusawa H.
    J Hum Genet; 2003 Jul 30; 48(3):111-8. PubMed ID: 12624721
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  • 16. Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.
    Hirano R, Takashima H, Okubo R, Tajima K, Okamoto Y, Ishida S, Tsuruta K, Arisato T, Arata H, Nakagawa M, Osame M, Arimura K.
    Neurogenetics; 2004 Dec 30; 5(4):215-21. PubMed ID: 15455264
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  • 17. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.
    Chung MY, Lu YC, Cheng NC, Soong BW.
    Brain; 2003 Jun 30; 126(Pt 6):1293-9. PubMed ID: 12764052
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  • 18. On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA.
    Ishikawa K, Mizusawa H.
    Neuropathology; 2006 Aug 30; 26(4):352-60. PubMed ID: 16961073
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  • 19. Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.
    Pujana MA, Volpini V, Gratacós M, Corral J, Banchs I, Sánchez A, Genís D, Cervera C, Estivill X.
    J Med Genet; 1998 Feb 30; 35(2):99-102. PubMed ID: 9507387
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  • 20. The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.
    Cagnoli C, Brussino A, Di Gregorio E, Brusco A, Stevanin G, Durr A, Brice A.
    Mov Disord; 2007 Apr 15; 22(5):752-3. PubMed ID: 17290458
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