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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S. Guo L, et al. Among authors: yokota t. Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982609 Free PMC article.
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: yokota t. 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.
Deletion of vitamin E enhances phenotype of Alzheimer disease model mouse.
Nishida Y, Yokota T, Takahashi T, Uchihara T, Jishage K, Mizusawa H. Nishida Y, et al. Among authors: yokota t. Biochem Biophys Res Commun. 2006 Nov 24;350(3):530-6. doi: 10.1016/j.bbrc.2006.09.083. Epub 2006 Sep 26. Biochem Biophys Res Commun. 2006. PMID: 17026966
Skeletal muscle MRI in complex regional pain syndrome.
Nishida Y, Saito Y, Yokota T, Kanda T, Mizusawa H. Nishida Y, et al. Among authors: yokota t. Intern Med. 2009;48(4):209-12. doi: 10.2169/internalmedicine.48.1611. Epub 2009 Feb 16. Intern Med. 2009. PMID: 19218770 Free article.
2,328 results