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Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Sone J, et al. Among authors: maeda k. Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332381
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
Tokunaga S, Hashiguchi A, Yoshimura A, Maeda K, Suzuki T, Haruki H, Nakamura T, Okamoto Y, Takashima H. Tokunaga S, et al. Among authors: maeda k. Neurogenetics. 2012 Nov;13(4):359-65. doi: 10.1007/s10048-012-0338-5. Epub 2012 Aug 1. Neurogenetics. 2012. PMID: 22847150
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.
Tanabe H, Higuchi Y, Yuan JH, Hashiguchi A, Yoshimura A, Ishihara S, Nozuma S, Okamoto Y, Matsuura E, Ishiura H, Mitsui J, Takashima R, Kokubun N, Maeda K, Asano Y, Sunami Y, Kono Y, Ishigaki Y, Yanamoto S, Fukae J, Kida H, Morita M, Tsuji S, Takashima H. Tanabe H, et al. Among authors: maeda k. J Peripher Nerv Syst. 2018 Mar;23(1):40-48. doi: 10.1111/jns.12252. Epub 2018 Feb 14. J Peripher Nerv Syst. 2018. PMID: 29381233 Free PMC article.
Cerebral Blood Flow in a Patient with Hemiballism.
Maeda K, Sugihara Y. Maeda K, et al. Intern Med. 2018 Jan 15;57(2):289-290. doi: 10.2169/internalmedicine.8836-17. Epub 2017 Nov 1. Intern Med. 2018. PMID: 29093387 Free PMC article. No abstract available.
Lipid Droplets in the Basal Cistern and Ventricles.
Maeda K, Inoue A, Hirano S, Sugihara Y. Maeda K, et al. Intern Med. 2018 Oct 1;57(19):2913-2914. doi: 10.2169/internalmedicine.0851-18. Epub 2018 May 18. Intern Med. 2018. PMID: 29780138 Free PMC article. No abstract available.
5,809 results