メディカル・ゲノムセンター(MGC)

2022年04月01日

原著

Sano T, Kawazoe T, Shioya A, Mori-Yoshimura M, Oya Y, Maruo K, Nishino I, Hoshino M, Murayama S, Saito Y: Unique Lewy pathology in myotonic dystrophy type 1. Neuropathology. 42(2):104-116. Apr, 2022 doi: 10.1111/neup.12790. PMID: 35199386

2022年04月01日

原著

Munekane A, Ohsawa Y, Fukuda T, Nishimura H, Nishimatsu SI, Sugie H, Saito Y, Nishino I, Sunada Y: Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency. Intern Med. 61(8):1241-1245. Apr, 2022 doi: 10.2169/internalmedicine.8137-21. PMID: 34615823

2022年04月01日

原著

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: Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nat Commun. 13(1):2306. Apr, 2022 doi: 10.1038/s41467-022-30015-1.PMID: 35484142

2022年04月01日

原著

Nishiyori R, Saito K, Ishibashi M, Matsubara E, Okuhiro K, Takano K, Imadome KI, Takaji R, Nishino I, Nishida H, Daa T, Oki R, Shimizu F, Goto-Umeki M, Goto M, Hatano Y: A case of orofacial swelling accompanied by sarcoid-like reaction due to chronic active Epstein-Barr virus infection. Eur J Dermatol. 32(2):277-278. Apr, 2022 doi: 10.1684/ejd.2022.4248. PMID: 35866916