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Page 1
RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.
Wada T, Doi H, Okubo M, Tada M, Ueda N, Suzuki H, Tominaga W, Koike H, Komiya H, Kubota S, Hashiguchi S, Nakamura H, Takahashi K, Kunii M, Tanaka K, Miyaji Y, Higashiyama Y, Koshimizu E, Miyatake S, Katsuno M, Fujii S, Takahashi H, Matsumoto N, Takeuchi H, Tanaka F. Wada T, et al. Among authors: hashiguchi s. Ann Neurol. 2024 Mar;95(3):607-613. doi: 10.1002/ana.26848. Epub 2023 Dec 27. Ann Neurol. 2024. PMID: 38062616
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: hashiguchi 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.
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: hashiguchi s. Clin Genet. 2018 Aug;94(2):232-238. doi: 10.1111/cge.13371. Epub 2018 Jun 8. Clin Genet. 2018. PMID: 29700822
A Case of McLeod Syndrome with A Novel XK Missense Mutation.
Komiya H, Takasu M, Hashiguchi S, Uematsu E, Fukai R, Tanaka K, Tada M, Joki H, Takahashi T, Koyano S, Doi H, Takeuchi H, Tanaka F. Komiya H, et al. Among authors: hashiguchi s. Mov Disord Clin Pract. 2018 Apr 6;5(3):333-336. doi: 10.1002/mdc3.12614. eCollection 2018 May-Jun. Mov Disord Clin Pract. 2018. PMID: 30800707 Free PMC article. No abstract available.
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. Neurobiol Dis. 2019 Oct;130:104516. doi: 10.1016/j.nbd.2019.104516. Epub 2019 Jun 20. Neurobiol Dis. 2019. PMID: 31229688
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: hashiguchi s. Ann Neurol. 2019 Dec;86(6):962-968. doi: 10.1002/ana.25586. Epub 2019 Oct 22. Ann Neurol. 2019. PMID: 31433517
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: hashiguchi s. 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: hashiguchi s. Mol Brain. 2021 Mar 23;14(1):59. doi: 10.1186/s13041-021-00770-1. Mol Brain. 2021. PMID: 33757575 Free PMC article.
233 results