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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: yuge k. Sci Adv. 2020 Dec 18;6(51):eabd7197. doi: 10.1126/sciadv.abd7197. Print 2020 Dec. Sci Adv. 2020. PMID: 33355142 Free PMC article.
A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.
Yuge K, Iwama K, Yonee C, Matsufuji M, Sano N, Saikusa T, Yae Y, Yamashita Y, Mizuguchi T, Matsumoto N, Matsuishi T. Yuge K, et al. Brain Dev. 2018 Jun;40(6):493-497. doi: 10.1016/j.braindev.2018.02.002. Epub 2018 Mar 12. Brain Dev. 2018. PMID: 29544889
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N. Iwama K, et al. Among authors: yuge k. J Med Genet. 2019 Jun;56(6):396-407. doi: 10.1136/jmedgenet-2018-105775. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842224
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome.
Nabatame S, Tanigawa J, Tominaga K, Kagitani-Shimono K, Yanagihara K, Imai K, Ando T, Tsuyusaki Y, Araya N, Matsufuji M, Natsume J, Yuge K, Bratkovic D, Arai H, Okinaga T, Matsushige T, Azuma Y, Ishihara N, Miyatake S, Kato M, Matsumoto N, Okamoto N, Takahashi S, Hattori S, Ozono K. Nabatame S, et al. Among authors: yuge k. J Neurol Sci. 2023 Apr 15;447:120597. doi: 10.1016/j.jns.2023.120597. Epub 2023 Mar 2. J Neurol Sci. 2023. PMID: 36965413 Free article.
150 results