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CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H. Kume K, et al. Am J Hum Genet. 2023 Jul 6;110(7):1086-1097. doi: 10.1016/j.ajhg.2023.05.014. Epub 2023 Jun 19. Am J Hum Genet. 2023. PMID: 37339631 Free PMC article.
Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report.
Fujita K, Matsubara T, Miyamoto R, Sumikura H, Takeuchi T, Maruyama Saladini K, Kawarai T, Nodera H, Udaka F, Kume K, Morino H, Kawakami H, Hasegawa M, Kaji R, Murayama S, Izumi Y. Fujita K, et al. Among authors: kume k. BMC Neurol. 2019 Jul 18;19(1):168. doi: 10.1186/s12883-019-1402-7. BMC Neurol. 2019. PMID: 31319800 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: kume k. 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.
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. Among authors: kume k. Neurol Genet. 2020 Jan 16;6(1):e396. doi: 10.1212/NXG.0000000000000396. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042923 Free PMC article.
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: kume k. 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: kume k. 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
693 results