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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: ueda n. 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.
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K. Ozaki K, et al. Among authors: ueda n. JAMA Neurol. 2015 Jul;72(7):797-805. doi: 10.1001/jamaneurol.2015.0610. JAMA Neurol. 2015. PMID: 26010696
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: ueda n. Clin Genet. 2018 Aug;94(2):232-238. doi: 10.1111/cge.13371. Epub 2018 Jun 8. Clin Genet. 2018. PMID: 29700822
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: ueda n. Ann Neurol. 2019 Dec;86(6):962-968. doi: 10.1002/ana.25586. Epub 2019 Oct 22. Ann Neurol. 2019. PMID: 31433517
PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan.
Daida K, Nishioka K, Li Y, Yoshino H, Shimada T, Dougu N, Nakatsuji Y, Ohara S, Hashimoto T, Okiyama R, Yokochi F, Suzuki C, Tomiyama M, Kimura K, Ueda N, Tanaka F, Yamada H, Fujioka S, Tsuboi Y, Uozumi T, Takei T, Matsuzaki S, Shibasaki M, Kashihara K, Kurisaki R, Yamashita T, Fujita N, Hirata Y, Ii Y, Wada C, Eura N, Sugie K, Higuchi Y, Kojima F, Imai H, Noda K, Shimo Y, Funayama M, Hattori N. Daida K, et al. Among authors: ueda n. Neurobiol Aging. 2021 Jan;97:147.e1-147.e9. doi: 10.1016/j.neurobiolaging.2020.07.004. Epub 2020 Jul 13. Neurobiol Aging. 2021. PMID: 32771225
1,497 results