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Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tsuburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N. Mizuguchi T, et al. Among authors: fukuda h. Brain. 2021 May 7;144(4):1103-1117. doi: 10.1093/brain/awab021. Brain. 2021. PMID: 33791773
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: fukuda 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: fukuda 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.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Uchiyama Y, et al. Among authors: fukuda h. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33131168
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy.
Ishihara T, Okamoto T, Saida K, Saitoh Y, Oda S, Sano T, Yoshida T, Morita Y, Fujita A, Fukuda H, Miyake N, Mizuguchi T, Saito Y, Sekijima Y, Matsumoto N, Takahashi Y. Ishihara T, et al. Among authors: fukuda h. Neurol Genet. 2020 Nov 19;6(6):e531. doi: 10.1212/NXG.0000000000000531. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33324757 Free PMC article. No abstract available.
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tsuburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N. Mizuguchi T, et al. Among authors: fukuda h. Brain. 2021 Sep 4;144(8):e67. doi: 10.1093/brain/awab183. Brain. 2021. PMID: 34037746 No abstract available.
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion.
Yamada H, Okanishi T, Okazaki T, Oguri M, Fukuda H, Uchiyama Y, Mizuguchi T, Matsumoto N, Maegaki Y. Yamada H, et al. Among authors: fukuda h. Brain Dev. 2022 Jan;44(1):68-72. doi: 10.1016/j.braindev.2021.07.007. Epub 2021 Jul 29. Brain Dev. 2022. PMID: 34332824
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.
Fukuda H, Yamaguchi D, Nyquist K, Yabuki Y, Miyatake S, Uchiyama Y, Hamanaka K, Saida K, Koshimizu E, Tsuchida N, Fujita A, Mitsuhashi S, Ohbo K, Satake Y, Sone J, Doi H, Morihara K, Okamoto T, Takahashi Y, Wenger AM, Shioda N, Tanaka F, Matsumoto N, Mizuguchi T. Fukuda H, et al. Clin Epigenetics. 2021 Nov 13;13(1):204. doi: 10.1186/s13148-021-01192-5. Clin Epigenetics. 2021. PMID: 34774111 Free PMC article.
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: fukuda h. Brain. 2022 Apr 29;145(3):1139-1150. doi: 10.1093/brain/awab363. Brain. 2022. PMID: 35355059
3,514 results