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Page 1
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: takeuchi h. 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
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: takeuchi h. 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
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: takeuchi h. Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332381
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Okubo M, Doi H, Fukai R, Fujita A, Mitsuhashi S, Hashiguchi S, Kishida H, Ueda N, Morihara K, Ogasawara A, Kawamoto Y, Takahashi T, Takahashi K, Nakamura H, Kunii M, Tada M, Katsumoto A, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Suzuki J, Ito Y, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F. Okubo M, et al. Among authors: takeuchi h. Ann Neurol. 2019 Dec;86(6):962-968. doi: 10.1002/ana.25586. Epub 2019 Oct 22. Ann Neurol. 2019. PMID: 31433517
Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy".
Doi H, Okubo M, Fukai R, Fujita A, Mitsuhashi S, Takahashi K, Kunii M, Tada M, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F. Doi H, et al. Among authors: takeuchi h. Ann Neurol. 2020 Sep;88(3):642-643. doi: 10.1002/ana.25819. Epub 2020 Jul 8. Ann Neurol. 2020. PMID: 32542787 No abstract available.
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. Among authors: takeuchi h. Clin Genet. 2018 Aug;94(2):232-238. doi: 10.1111/cge.13371. Epub 2018 Jun 8. Clin Genet. 2018. PMID: 29700822
Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.
Hamanaka K, Takahashi K, Miyatake S, Mitsuhashi S, Hamanoue H, Miyaji Y, Fukai R, Doi H, Fujita A, Imagawa E, Iwama K, Nakashima M, Mizuguchi T, Takata A, Miyake N, Takeuchi H, Tanaka F, Matsumoto N. Hamanaka K, et al. Among authors: takeuchi h. Clin Genet. 2018 Aug;94(2):274-275. doi: 10.1111/cge.13369. Epub 2018 May 21. Clin Genet. 2018. PMID: 29782645 No abstract available.
Adult-onset vocal cord paralysis in slow-channel congenital myasthenic syndrome.
Nakamura H, Komiya H, Uematsu E, Nakae Y, Tanaka K, Kunii M, Tada M, Joki H, Koyano S, Matsumoto N, Doi H, Takeuchi H, Tanaka F. Nakamura H, et al. Among authors: takeuchi h. Neurol Clin Pract. 2019 Oct;9(5):e45-e47. doi: 10.1212/CPJ.0000000000000599. Neurol Clin Pract. 2019. PMID: 31750034 Free PMC article. No abstract available.
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
Kunii M, Doi H, Hashiguchi S, Matsuishi T, Sakai Y, Iai M, Okubo M, Nakamura H, Takahashi K, Katsumoto A, Tada M, Takeuchi H, Ishikawa T, Miyake N, Saitsu H, Matsumoto N, Tanaka F. Kunii M, et al. Among authors: takeuchi h. J Neurol Sci. 2020 Sep 15;416:117047. doi: 10.1016/j.jns.2020.117047. Epub 2020 Jul 17. J Neurol Sci. 2020. PMID: 32736238
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. Among authors: takeuchi h. Mol Brain. 2021 Mar 23;14(1):59. doi: 10.1186/s13041-021-00770-1. Mol Brain. 2021. PMID: 33757575 Free PMC article.
3,794 results