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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Ishiura H, et al. Among authors: saito y. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
Lewy body-related alpha-synucleinopathy in aging.
Saito Y, Ruberu NN, Sawabe M, Arai T, Kazama H, Hosoi T, Yamanouchi H, Murayama S. Saito Y, et al. J Neuropathol Exp Neurol. 2004 Jul;63(7):742-9. doi: 10.1093/jnen/63.7.742. J Neuropathol Exp Neurol. 2004. PMID: 15290899
[Parkinson disease with dementia--responsible locus for dementia].
Murayama S, Saito Y, Ishii K, Mitani K, Kanemaru K, Yamanouchi H, Kurisaki H, Imafuku I. Murayama S, et al. Among authors: saito y. Rinsho Shinkeigaku. 2004 Nov;44(11):824-6. Rinsho Shinkeigaku. 2004. PMID: 15651303 Review. Japanese.
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. Ishikawa K, et al. Among authors: saito y. Am J Hum Genet. 2005 Aug;77(2):280-96. doi: 10.1086/432518. Epub 2005 Jul 6. Am J Hum Genet. 2005. PMID: 16001362 Free PMC article.
9,427 results