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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: hashiguchi a. Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332381
[Mitochondrial encephalomyopathy with elderly onset of psychiatric disorder].
Moriyama H, Ichiki M, Arime T, Hashiguchi A, Kanda N, Ikeda K, Takashima H, Higuchi I, Osame M, Arimura K. Moriyama H, et al. Among authors: hashiguchi a. Nihon Naika Gakkai Zasshi. 2007 Nov 10;96(11):2536-8. doi: 10.2169/naika.96.2536. Nihon Naika Gakkai Zasshi. 2007. PMID: 18069310 Japanese. No abstract available.
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: hashiguchi a. Neurogenetics. 2012 Nov;13(4):359-65. doi: 10.1007/s10048-012-0338-5. Epub 2012 Aug 1. Neurogenetics. 2012. PMID: 22847150
288 results