| 1 | BEAN1, SCA31
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| Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis.
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| Niimi Y, Takahashi M, Sugawara E, Umeda S, Obayashi M, Sato N, Ishiguro T, Higashi M, Eishi Y, Mizusawa H, Ishikawa K.
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| Neuropathology 33(6):600-11. doi: 10.1111/neup.12032. Epub 2013 Apr 22.
2013
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| 2 | DFNB10, SCA31
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| Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
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| Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H.
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| Am J Hum Genet 85(5):544-57. Epub 2009 Oct 29.PMID: 19878914 2009
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| 3 | SCA31
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| Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.
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| Amino T, Ishikawa K, Toru S, Ishiguro T, Sato N, Tsunemi T, Murata M, Kobayashi K, Inazawa J, Toda T, Mizusawa H.
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| J Hum Genet 52(8):643-9. Epub 2007 Jul 5.PMID: 17611710 2007
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| 4 | SCA31
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| Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.
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| Basri R, Yabe I, Soma H, Sasaki H.
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| J Hum Genet 52(10):848-55. Epub 2007 Sep 5.PMID: 17805477 2007
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| 5 | PLEKHG4, SCA31, SCA4
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| 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.
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| 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.
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| Am J Hum Genet 77(2):280-96. Epub 2005 Jul 6. 2005
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| 6 | SCA31
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| Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.
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| Hirano R, Takashima H, Okubo R, Tajima K, Okamoto Y, Ishida S, Tsuruta K, Arisato T, Arata H, Nakagawa M, Osame M, Arimura K.
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| Neurogenetics 5(4):215-21. Epub 2004 Sep 29.PMID: 15455264 2004
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