Yuasa I - Search Results

1

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

Guillard M, Wada Y, Hansikova H, Yuasa I, Vesela K, Ondruskova N, Kadoya M, Janssen A, Van den Heuvel LP, Morava E, Zeman J, Wevers RA, Lefeber DJ. Guillard M, et al. Among authors: yuasa i. J Inherit Metab Dis. 2011 Aug;34(4):901-6. doi: 10.1007/s10545-011-9311-y. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431619 Free PMC article.

2

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.

Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: yuasa i. Clin Genet. 2015 May;87(5):455-60. doi: 10.1111/cge.12417. Epub 2014 May 24. Clin Genet. 2015. PMID: 24784932

3

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.

Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: yuasa i. Hum Mutat. 2013 Dec;34(12):1708-14. doi: 10.1002/humu.22446. Epub 2013 Oct 15. Hum Mutat. 2013. PMID: 24115232

4

Cutis laxa with frontoparietal cortical malformation: a novel type of congenital disorder of glycosylation.

Okanishi T, Saito Y, Yuasa I, Miura M, Nagata I, Maegaki Y, Ohno K. Okanishi T, et al. Among authors: yuasa i. Eur J Paediatr Neurol. 2008 May;12(3):262-5. doi: 10.1016/j.ejpn.2007.08.006. Epub 2008 Jan 9. Eur J Paediatr Neurol. 2008. PMID: 18187349

5

[CDG syndrome(congenital disorders of glycosylation)].

Yuasa I, Ohno K. Yuasa I, et al. Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):493-5. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11032006 Review. Japanese. No abstract available.

6

Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.

Yokoi K, Nakajima Y, Ohye T, Inagaki H, Wada Y, Fukuda T, Sugie H, Yuasa I, Ito T, Kurahashi H. Yokoi K, et al. Among authors: yuasa i. JIMD Rep. 2019;43:85-90. doi: 10.1007/8904_2018_108. Epub 2018 May 12. JIMD Rep. 2019. PMID: 29752652 Free PMC article.

7

Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.

Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y. Kondo I, et al. Among authors: yuasa i. Clin Genet. 1999 Jan;55(1):50-4. doi: 10.1034/j.1399-0004.1999.550109.x. Clin Genet. 1999. PMID: 10066032

8

Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.

Ono H, Sakura N, Yamashita K, Yuasa I, Ohno K. Ono H, et al. Among authors: yuasa i. Brain Dev. 2003 Oct;25(7):525-8. doi: 10.1016/s0387-7604(03)00063-9. Brain Dev. 2003. PMID: 13129599

9

Monozygotic twins discordant for Klippel-Feil syndrome.

Toyoshima M, Maegaki Y, Yuasa I, Ohno K. Toyoshima M, et al. Among authors: yuasa i. Pediatr Neurol. 2006 Jan;34(1):76-8. doi: 10.1016/j.pediatrneurol.2005.07.003. Pediatr Neurol. 2006. PMID: 16376286

10

Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.

Okazaki T, Saito Y, Ueda R, Awashima T, Nishimura Y, Yuasa I, Shinohara Y, Adachi K, Sasaki M, Nanba E, Maegaki Y. Okazaki T, et al. Among authors: yuasa i. Brain Dev. 2017 Jan;39(1):67-71. doi: 10.1016/j.braindev.2016.07.004. Epub 2016 Jul 30. Brain Dev. 2017. PMID: 27485793

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