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KIF1A mutation in a patient with progressive neurodegeneration.
Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: kosaki k. J Hum Genet. 2014 Nov;59(11):639-41. doi: 10.1038/jhg.2014.80. Epub 2014 Sep 25. J Hum Genet. 2014. PMID: 25253658
Late-onset epileptic spasms in a female patient with a CASK mutation.
Nakajiri T, Kobayashi K, Okamoto N, Oka M, Miya F, Kosaki K, Yoshinaga H. Nakajiri T, et al. Among authors: kosaki k. Brain Dev. 2015 Oct;37(9):919-23. doi: 10.1016/j.braindev.2015.02.007. Epub 2015 Mar 9. Brain Dev. 2015. PMID: 25765806 Review.
ALDH18A1-related cutis laxa syndrome with cyclic vomiting.
Nozaki F, Kusunoki T, Okamoto N, Yamamoto Y, Miya F, Tsunoda T, Kosaki K, Kumada T, Shibata M, Fujii T. Nozaki F, et al. Among authors: kosaki k. Brain Dev. 2016 Aug;38(7):678-84. doi: 10.1016/j.braindev.2016.01.003. Epub 2016 Jan 29. Brain Dev. 2016. PMID: 26829900
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Hori I, et al. Among authors: kosaki k. Am J Med Genet A. 2016 Jul;170(7):1863-7. doi: 10.1002/ajmg.a.37653. Epub 2016 Apr 13. Am J Med Genet A. 2016. PMID: 27075689
Truncating mutation in NFIA causes brain malformation and urinary tract defects.
Negishi Y, Miya F, Hattori A, Mizuno K, Hori I, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Negishi Y, et al. Among authors: kosaki k. Hum Genome Var. 2015 Feb 26;2:15007. doi: 10.1038/hgv.2015.7. eCollection 2015. Hum Genome Var. 2015. PMID: 27081522 Free PMC article.
510 results