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A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N. Higashiyama Y, et al. Among authors: fukai r. Mov Disord. 2013 Apr;28(4):552-3. doi: 10.1002/mds.25296. Epub 2013 Jan 16. Mov Disord. 2013. PMID: 23325613 No abstract available.
Co-occurrence of 22q11 deletion syndrome and HDR syndrome.
Fukai R, Ochi N, Murakami A, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N. Fukai R, et al. Am J Med Genet A. 2013 Oct;161A(10):2576-81. doi: 10.1002/ajmg.a.36083. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918631
Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series.
Yasuda Y, Hashimoto R, Fukai R, Okamoto N, Hiraki Y, Yamamori H, Fujimoto M, Ohi K, Taniike M, Mohri I, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N, Takeda M. Yasuda Y, et al. Among authors: fukai r. Ann Gen Psychiatry. 2014 Aug 6;13:22. doi: 10.1186/s12991-014-0022-2. eCollection 2014. Ann Gen Psychiatry. 2014. PMID: 25126106 Free PMC article.
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N. Saitsu H, et al. Among authors: fukai r. Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966631 Free PMC article.
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.
Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, Miyake N, Matsumoto N. Imagawa E, et al. Among authors: fukai r. Hum Genome Var. 2015 Sep 17;2:15034. doi: 10.1038/hgv.2015.34. eCollection 2015. Hum Genome Var. 2015. PMID: 27081543 Free PMC article.
112 results