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Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.
Matsuda Y, Morino H, Miyamoto R, Kurashige T, Kume K, Mizuno N, Kanaya Y, Tada Y, Ohsawa R, Yokota K, Shimozawa N, Maruyama H, Kawakami H. Matsuda Y, et al. Neurol Genet. 2020 Jan 16;6(1):e396. doi: 10.1212/NXG.0000000000000396. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042923 Free PMC article.
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H. Morino H, et al. Among authors: matsuda y. Neurology. 2014 Nov 25;83(22):2054-61. doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29. Neurology. 2014. PMID: 25355836 Free PMC article.
Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation.
Kurashige T, Morino H, Matsuda Y, Mukai T, Murao T, Toko M, Kume K, Ohsawa R, Torii T, Tokinobu H, Maruyama H, Kawakami H. Kurashige T, et al. Among authors: matsuda y. J Neurol Neurosurg Psychiatry. 2020 Feb;91(2):220-222. doi: 10.1136/jnnp-2019-321279. Epub 2019 Aug 20. J Neurol Neurosurg Psychiatry. 2020. PMID: 31431468 No abstract available.
Optineurin regulates osteoblastogenesis through STAT1.
Mizuno N, Iwata T, Ohsawa R, Ouhara K, Matsuda S, Kajiya M, Matsuda Y, Kume K, Tada Y, Morino H, Yoshimoto T, Ueki Y, Mihara K, Sotomaru Y, Takeda K, Munenaga S, Fujita T, Kawaguchi H, Shiba H, Kawakami H, Kurihara H. Mizuno N, et al. Among authors: matsuda s, matsuda y. Biochem Biophys Res Commun. 2020 May 14;525(4):889-894. doi: 10.1016/j.bbrc.2020.03.028. Epub 2020 Mar 12. Biochem Biophys Res Commun. 2020. PMID: 32171527
Aggressive periodontitis and NOD2 variants.
Mizuno N, Kume K, Nagatani Y, Matsuda S, Iwata T, Ouhara K, Kajiya M, Takeda K, Matsuda Y, Tada Y, Ohsawa R, Morino H, Mihara K, Fujita T, Kawaguchi H, Shiba H, Kawakami H, Kurihara H. Mizuno N, et al. Among authors: matsuda s, matsuda y. J Hum Genet. 2020 Oct;65(10):841-846. doi: 10.1038/s10038-020-0777-z. Epub 2020 May 19. J Hum Genet. 2020. PMID: 32424308
3,899 results