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2002 11
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Page 1
Did you mean ariyoshi iida[Author] (12 results)?
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: iida a. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Myoglobinopathy affecting facial and oropharyngeal muscles.
Hama Y, Mori-Yoshimura M, Aizawa K, Oya Y, Nakamura H, Inoue M, Iida A, Sato N, Nonaka I, Nishino I, Takahashi Y. Hama Y, et al. Among authors: iida a. Neuromuscul Disord. 2022 Jun;32(6):516-520. doi: 10.1016/j.nmd.2022.02.010. Epub 2022 Feb 24. Neuromuscul Disord. 2022. PMID: 35527200
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z. Deng J, et al. Among authors: iida a. Am J Hum Genet. 2020 Jun 4;106(6):793-804. doi: 10.1016/j.ajhg.2020.04.011. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413282 Free PMC article.
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group; Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A. Kumutpongpanich T, et al. Among authors: iida a. JAMA Neurol. 2021 Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509. JAMA Neurol. 2021. PMID: 34047774 Free PMC article.
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.
Nishimori Y, Iida A, Ogasawara M, Okubo M, Yonenobu Y, Kinoshita M, Sugie K, Noguchi S, Nishino I. Nishimori Y, et al. Among authors: iida a. Neurol Genet. 2021 Dec 17;8(1):e649. doi: 10.1212/NXG.0000000000000649. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34934811 Free PMC article.
An autopsied case of ADSSL1 myopathy.
Motoda A, Takahashi T, Watanabe C, Tachiyama Y, Ochi K, Saito Y, Iida A, Nishino I, Maruyama H. Motoda A, et al. Among authors: iida a. Neuromuscul Disord. 2021 Nov;31(11):1220-1225. doi: 10.1016/j.nmd.2021.07.011. Epub 2021 Jul 20. Neuromuscul Disord. 2021. PMID: 34635388
Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis.
Kawai Y, Watanabe Y, Omae Y, Miyahara R, Khor SS, Noiri E, Kitajima K, Shimanuki H, Gatanaga H, Hata K, Hattori K, Iida A, Ishibashi-Ueda H, Kaname T, Kanto T, Matsumura R, Miyo K, Noguchi M, Ozaki K, Sugiyama M, Takahashi A, Tokuda H, Tomita T, Umezawa A, Watanabe H, Yoshida S, Goto YI, Maruoka Y, Matsubara Y, Niida S, Mizokami M, Tokunaga K. Kawai Y, et al. Among authors: iida a. PLoS Genet. 2023 Dec 7;19(12):e1010625. doi: 10.1371/journal.pgen.1010625. eCollection 2023 Dec. PLoS Genet. 2023. PMID: 38060463 Free PMC article.
RILPL1-related OPDM is absent in a Japanese cohort.
Eura N, Iida A, Ogasawara M, Hayashi S, Noguchi S, Nishino I. Eura N, et al. Among authors: iida a. Am J Hum Genet. 2022 Nov 3;109(11):2088-2089. doi: 10.1016/j.ajhg.2022.10.005. Am J Hum Genet. 2022. PMID: 36332612 Free PMC article. No abstract available.
SLC4A2 Deficiency Causes a New Type of Osteopetrosis.
Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S, Guo L. Xue JY, et al. Among authors: iida a. J Bone Miner Res. 2022 Feb;37(2):226-235. doi: 10.1002/jbmr.4462. Epub 2021 Nov 11. J Bone Miner Res. 2022. PMID: 34668226 Free article.
113 results