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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: kubota s. 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
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. Among authors: kubota s. 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.
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: kubota s. 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.
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: kubota s. Neurobiol Dis. 2019 Oct;130:104516. doi: 10.1016/j.nbd.2019.104516. Epub 2019 Jun 20. Neurobiol Dis. 2019. PMID: 31229688
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.
Nakamura H, Doi H, Mitsuhashi S, Miyatake S, Katoh K, Frith MC, Asano T, Kudo Y, Ikeda T, Kubota S, Kunii M, Kitazawa Y, Tada M, Okamoto M, Joki H, Takeuchi H, Matsumoto N, Tanaka F. Nakamura H, et al. Among authors: kubota s. J Hum Genet. 2020 May;65(5):475-480. doi: 10.1038/s10038-020-0733-y. Epub 2020 Feb 18. J Hum Genet. 2020. PMID: 32066831
SGTA associates with intracellular aggregates in neurodegenerative diseases.
Kubota S, Doi H, Koyano S, Tanaka K, Komiya H, Katsumoto A, Ikeda S, Hashiguchi S, Nakamura H, Fukai R, Takahashi K, Kunii M, Tada M, Takeuchi H, Tanaka F. Kubota S, et al. Mol Brain. 2021 Mar 23;14(1):59. doi: 10.1186/s13041-021-00770-1. Mol Brain. 2021. PMID: 33757575 Free PMC article.
Sensory Ataxic Guillain-Barré Syndrome with Dysgeusia after mRNA COVID-19 Vaccination.
Ogata S, Ishii Y, Asano K, Kobayashi E, Kubota S, Takahashi K, Miyaji Y, Higashiyama Y, Joki H, Doi H, Koga M, Takeuchi H, Tanaka F. Ogata S, et al. Among authors: kubota s. Intern Med. 2022 Jun 1;61(11):1757-1760. doi: 10.2169/internalmedicine.8967-21. Epub 2022 Mar 26. Intern Med. 2022. PMID: 35342134 Free PMC article.
Inhibition of Crmp1 Phosphorylation at Ser522 Ameliorates Motor Function and Neuronal Pathology in Amyotrophic Lateral Sclerosis Model Mice.
Asano T, Nakamura H, Kawamoto Y, Tada M, Kimura Y, Takano H, Yao R, Saito H, Ikeda T, Komiya H, Kubota S, Hashiguchi S, Takahashi K, Kunii M, Tanaka K, Goshima Y, Nakamura F, Takeuchi H, Doi H, Tanaka F. Asano T, et al. Among authors: kubota s. eNeuro. 2022 May 23;9(3):ENEURO.0133-22.2022. doi: 10.1523/ENEURO.0133-22.2022. Print 2022 May-Jun. eNeuro. 2022. PMID: 35523582 Free PMC article.
1,467 results