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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: sato a. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
[Creutzfeldt-Jakob Disease].
Sato A. Sato A. No Shinkei Geka. 2021 Mar;49(2):407-412. doi: 10.11477/mf.1436204406. No Shinkei Geka. 2021. PMID: 33762465 Japanese.
[Autoimmune Encephalitis/Meningitis].
Sato A. Sato A. No Shinkei Geka. 2021 Mar;49(2):401-406. doi: 10.11477/mf.1436204405. No Shinkei Geka. 2021. PMID: 33762464 Japanese.
Acute psychiatric symptoms in a young woman with anti-N-methyl D-aspartate receptor encephalitis: A case of successful early diagnosis and therapeutic intervention.
Tominaga M, Morikawa K, Yamamoto H, Ogawa Y, Kamimura N, Tsuneki I, Yahata T, Tamura M, Yanase T, Sato A, Shibuya H, Kurabayashi T. Tominaga M, et al. Among authors: sato a. Clin Case Rep. 2022 Feb 7;10(2):e05420. doi: 10.1002/ccr3.5420. eCollection 2022 Feb. Clin Case Rep. 2022. PMID: 35154729 Free PMC article.
5,264 results