Saito K - Search Results

1

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.

Abe A, Numakura C, Saito K, Koide H, Oka N, Honma A, Kishikawa Y, Hayasaka K. Abe A, et al. Among authors: saito k. J Hum Genet. 2009 Feb;54(2):94-7. doi: 10.1038/jhg.2008.13. Epub 2009 Jan 16. J Hum Genet. 2009. PMID: 19158810

2

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N. Ono S, et al. Among authors: saito k. J Hum Genet. 2012 May;57(5):338-41. doi: 10.1038/jhg.2012.23. Epub 2012 Mar 8. J Hum Genet. 2012. PMID: 22399141

3

Charcot-Marie-Tooth disease type 4C in Japan: report of a case.

Iguchi M, Hashiguchi A, Ito E, Toda K, Urano M, Shimizu Y, Takeuchi C, Saito K, Takashima H, Uchiyama S. Iguchi M, et al. Among authors: saito k. Muscle Nerve. 2013 Feb;47(2):283-6. doi: 10.1002/mus.23540. Epub 2012 Dec 28. Muscle Nerve. 2013. PMID: 23281072

4

INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.

Toyota K, Ogino D, Hayashi M, Taki M, Saito K, Abe A, Hashimoto T, Umetsu K, Tsukaguchi H, Hayasaka K. Toyota K, et al. Among authors: saito k. J Peripher Nerv Syst. 2013 Mar;18(1):97-8. doi: 10.1111/jns5.12014. J Peripher Nerv Syst. 2013. PMID: 23521651 No abstract available.

5

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H. Kato M, et al. Among authors: saito k. Epilepsia. 2013 Jul;54(7):1282-7. doi: 10.1111/epi.12200. Epub 2013 Apr 26. Epilepsia. 2013. PMID: 23621294 Free article.

6

A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.

Kubo Y, Nishio H, Saito K. Kubo Y, et al. Among authors: saito k. J Hum Genet. 2015 May;60(5):233-9. doi: 10.1038/jhg.2015.16. Epub 2015 Feb 26. J Hum Genet. 2015. PMID: 25716911

7

Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.

Kitamura Y, Kondo E, Urano M, Aoki R, Saito K. Kitamura Y, et al. Among authors: saito k. J Hum Genet. 2016 Nov;61(11):931-942. doi: 10.1038/jhg.2016.79. Epub 2016 Jun 30. J Hum Genet. 2016. PMID: 27357428

8

Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.

Kobayashi K, Kato R, Kondo-Iida E, Taniguchi-Ikeda M, Osawa M, Saito K, Toda T. Kobayashi K, et al. Among authors: saito k. J Hum Genet. 2017 Nov;62(11):945-948. doi: 10.1038/jhg.2017.71. Epub 2017 Jul 6. J Hum Genet. 2017. PMID: 28680109

9

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H. Yuan JH, et al. Among authors: saito k. J Hum Genet. 2018 Mar;63(3):281-287. doi: 10.1038/s10038-017-0388-5. Epub 2018 Jan 10. J Hum Genet. 2018. PMID: 29321516

10

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Taniguchi K, et al. Among authors: saito k. Hum Mol Genet. 2003 Mar 1;12(5):527-34. doi: 10.1093/hmg/ddg043. Hum Mol Genet. 2003. PMID: 12588800

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