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A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Taniguchi M, Murayama K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F. Kunii M, et al. J Hum Genet. 2015 Apr;60(4):187-91. doi: 10.1038/jhg.2015.7. Epub 2015 Feb 5. J Hum Genet. 2015. PMID: 25652355 Review.
[Autosomal recessive spinocerebellar ataxias in Japan].
Tanaka F, Doi H, Kunii M. Tanaka F, et al. Among authors: kunii m. Rinsho Shinkeigaku. 2016 Jun 22;56(6):395-9. doi: 10.5692/clinicalneurol.cn-000879. Epub 2016 May 14. Rinsho Shinkeigaku. 2016. PMID: 27181749 Review. Japanese.
Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis.
Tada M, Doi H, Koyano S, Kubota S, Fukai R, Hashiguchi S, Hayashi N, Kawamoto Y, Kunii M, Tanaka K, Takahashi K, Ogawa Y, Iwata R, Yamanaka S, Takeuchi H, Tanaka F. Tada M, et al. Among authors: kunii m. Am J Pathol. 2018 Feb;188(2):507-514. doi: 10.1016/j.ajpath.2017.10.007. Epub 2017 Nov 9. Am J Pathol. 2018. PMID: 29128563 Free article.
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
Doi H, Koyano S, Miyatake S, Nakajima S, Nakazawa Y, Kunii M, Tomita-Katsumoto A, Oda K, Yamaguchi Y, Fukai R, Ikeda S, Kato R, Ogata K, Kubota S, Hayashi N, Takahashi K, Tada M, Tanaka K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogi T, Aihara M, Takeuchi H, Matsumoto N, Tanaka F. Doi H, et al. Among authors: kunii m. J Hum Genet. 2018 Apr;63(4):417-423. doi: 10.1038/s10038-017-0408-5. Epub 2018 Feb 5. J Hum Genet. 2018. PMID: 29403087
Cerebrospinal fluid level of Nogo receptor 1 antagonist lateral olfactory tract usher substance (LOTUS) correlates inversely with the extent of neuroinflammation.
Takahashi K, Takeuchi H, Kurihara Y, Doi H, Kunii M, Tanaka K, Nakamura H, Fukai R, Tomita-Katsumoto A, Tada M, Higashiyama Y, Joki H, Koyano S, Takei K, Tanaka F. Takahashi K, et al. Among authors: kunii m. J Neuroinflammation. 2018 Feb 17;15(1):46. doi: 10.1186/s12974-018-1084-x. J Neuroinflammation. 2018. PMID: 29454354 Free PMC article.
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.
Kunii M, Doi H, Ishii Y, Ohba C, Tanaka K, Tada M, Fukai R, Hashiguchi S, Kishida H, Ueda N, Kudo Y, Kugimoto C, Nakano T, Udaka N, Miyatake S, Miyake N, Saitsu H, Ito Y, Takahashi K, Nakamura H, Tomita-Katsumoto A, Takeuchi H, Koyano S, Matsumoto N, Tanaka F. Kunii M, et al. Clin Genet. 2018 Aug;94(2):232-238. doi: 10.1111/cge.13371. Epub 2018 Jun 8. Clin Genet. 2018. PMID: 29700822
Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease.
Yamaura G, Higashiyama Y, Kusama K, Kunii M, Tanaka K, Koyano S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Iwahashi Y, Joki H, Matsumoto N, Doi H, Tanaka F. Yamaura G, et al. Among authors: kunii m. Intern Med. 2019 Sep 15;58(18):2715-2719. doi: 10.2169/internalmedicine.2126-18. Epub 2019 Jun 7. Intern Med. 2019. PMID: 31178479 Free PMC article.
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42.
Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F. Hashiguchi S, et al. Among authors: kunii m. Neurobiol Dis. 2019 Oct;130:104516. doi: 10.1016/j.nbd.2019.104516. Epub 2019 Jun 20. Neurobiol Dis. 2019. PMID: 31229688
70 results