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Journal Abstract Search

132 related items for PubMed ID: 17611710

  • 1.
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  • 2. 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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  • 3. 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; 77(2):280-96. PubMed ID: 16001362
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  • 5. 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
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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 Sep 25; 51(4):363-367. PubMed ID: 16491300
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  • 9. 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 25; 116(2):123-7. PubMed ID: 17661799
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  • 12. 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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  • 14. [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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  • 17. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia.
    Nagaoka U, Takashima M, Ishikawa K, Yoshizawa K, Yoshizawa T, Ishikawa M, Yamawaki T, Shoji S, Mizusawa H.
    Neurology; 2000 May 23; 54(10):1971-5. PubMed ID: 10822439
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  • 18. Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic.
    Hellenbroich Y, Bernard V, Zühlke C.
    J Neurol; 2008 Apr 23; 255(4):612-3. PubMed ID: 18293026
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