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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: kita y. Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332381
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
Obayashi M, Stevanin G, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger N, Vighetto A, Desestret V, Tesson C, Wichmann HE, Illig T, Huttenlocher J, Kita Y, Izumi Y, Mizusawa H, Schöls L, Klopstock T, Brice A, Ishikawa K, Dürr A. Obayashi M, et al. Among authors: kita y. J Neurol Neurosurg Psychiatry. 2015 Sep;86(9):986-95. doi: 10.1136/jnnp-2014-309153. Epub 2014 Dec 4. J Neurol Neurosurg Psychiatry. 2015. PMID: 25476002
A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
Kawarai T, Tajima A, Kuroda Y, Saji N, Orlacchio A, Terasawa H, Shimizu H, Kita Y, Izumi Y, Mitsui T, Imoto I, Kaji R. Kawarai T, et al. Among authors: kita y. J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):656-62. doi: 10.1136/jnnp-2014-309828. Epub 2015 Jul 8. J Neurol Neurosurg Psychiatry. 2016. PMID: 26157035
[Acute myelitis associated with anti-neutral glycolipid antibody].
Terasawa H, Shimuzu H, Uehara T, Kita Y, Shima S, Mutoh T. Terasawa H, et al. Among authors: kita y. Rinsho Shinkeigaku. 2019 Jan 30;59(1):33-36. doi: 10.5692/clinicalneurol.cn-001219. Epub 2018 Dec 29. Rinsho Shinkeigaku. 2019. PMID: 30606995 Japanese.
1,540 results