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Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.
Kimura H, Nakatochi M, Aleksic B, Guevara J, Toyama M, Hayashi Y, Kato H, Kushima I, Morikawa M, Ishizuka K, Okada T, Tsurusaki Y, Fujita A, Miyake N, Ogi T, Takata A, Matsumoto N, Buxbaum J, Ozaki N, Sebat J. Kimura H, et al. Among authors: ogi t. Transl Psychiatry. 2022 Jul 11;12(1):265. doi: 10.1038/s41398-022-02033-6. Transl Psychiatry. 2022. PMID: 35811316 Free PMC 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: ogi t. 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
NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor.
Araki K, Nakamura R, Ito D, Kato K, Iguchi Y, Sahashi K, Toyama M, Hamada K, Okamoto N, Wada Y, Nakamura T, Ogi T, Katsuno M. Araki K, et al. Among authors: ogi t. Epilepsy Res. 2020 Aug;164:106371. doi: 10.1016/j.eplepsyres.2020.106371. Epub 2020 May 22. Epilepsy Res. 2020. PMID: 32485575
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T. Oka Y, et al. Among authors: ogi t. Sci Adv. 2020 Dec 18;6(51):eabd7197. doi: 10.1126/sciadv.abd7197. Print 2020 Dec. Sci Adv. 2020. PMID: 33355142 Free PMC article.
250 results