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LRRK2 P755L variant in sporadic Parkinson's disease.
Tomiyama H, Mizuta I, Li Y, Funayama M, Yoshino H, Li L, Murata M, Yamamoto M, Kubo SI, Mizuno Y, Toda T, Hattori N. Tomiyama H, et al. Among authors: toda t. J Hum Genet. 2008;53(11-12):1012-1015. doi: 10.1007/s10038-008-0336-5. Epub 2008 Oct 16. J Hum Genet. 2008. PMID: 18923807
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.
Kanagawa M, Nishimoto A, Chiyonobu T, Takeda S, Miyagoe-Suzuki Y, Wang F, Fujikake N, Taniguchi M, Lu Z, Tachikawa M, Nagai Y, Tashiro F, Miyazaki J, Tajima Y, Takeda S, Endo T, Kobayashi K, Campbell KP, Toda T. Kanagawa M, et al. Among authors: toda t. Hum Mol Genet. 2009 Feb 15;18(4):621-31. doi: 10.1093/hmg/ddn387. Epub 2008 Nov 18. Hum Mol Genet. 2009. PMID: 19017726 Free PMC article.
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
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. Sato N, et al. Among authors: toda t. Am J Hum Genet. 2009 Nov;85(5):544-57. doi: 10.1016/j.ajhg.2009.09.019. Epub 2009 Oct 29. Am J Hum Genet. 2009. PMID: 19878914 Free PMC article.
1,383 results