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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: koyano s. Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332381
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
Kameyama S, Mizuguchi T, Doi H, Koyano S, Okubo M, Tada M, Shimizu H, Fukuda H, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Misawa K, Miyatake S, Kanai K, Tanaka F, Matsumoto N. Kameyama S, et al. Among authors: koyano s. Genomics. 2022 Sep;114(5):110469. doi: 10.1016/j.ygeno.2022.110469. Epub 2022 Aug 27. Genomics. 2022. PMID: 36041634 Free article.
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: koyano 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.
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: koyano 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
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Miyatake S, Yoshida K, Koshimizu E, Doi H, Yamada M, Miyaji Y, Ueda N, Tsuyuzaki J, Kodaira M, Onoue H, Taguri M, Imamura S, Fukuda H, Hamanaka K, Fujita A, Satoh M, Miyama T, Watanabe N, Kurita Y, Okubo M, Tanaka K, Kishida H, Koyano S, Takahashi T, Ono Y, Higashida K, Yoshikura N, Ogata K, Kato R, Tsuchida N, Uchiyama Y, Miyake N, Shimohata T, Tanaka F, Mizuguchi T, Matsumoto N. Miyatake S, et al. Among authors: koyano s. Brain. 2022 Apr 29;145(3):1139-1150. doi: 10.1093/brain/awab363. Brain. 2022. PMID: 35355059
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: koyano s. Mol Brain. 2021 Mar 23;14(1):59. doi: 10.1186/s13041-021-00770-1. Mol Brain. 2021. PMID: 33757575 Free PMC article.
152 results