Inoue M, Tanboon J, Okubo M, Theerawat K, Saito Y, Ogasawara M, Indrawati LA, Uruha A, Okiyama N, Fujimoto M, Suzuki S, Nishino I.
Absence of sarcoplasmic MxA expression in antisynthetase syndrome in cohort of 194 cases. Neuropathol Appl Neurobiol. 2019 Apr 8. [Epub ahead of print]
Pogoryelova O, Urtizberea JA, Argov Z, Nishino I, Lochmüller H; ENMC workshop study group.
237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018. Neuromuscul Disord. 2019 Mar 2. [Epub ahead of print]
Ozawa K, Mochizuki K, Manabe Y, Yoshikura N, Shimohata T, Nishino I, Goto YI.
Reply to: Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype. Doc Ophthalmol. 2019 Mar 30. [Epub ahead of print]
Nishikawa A, Iida A, Hayashi S, Okubo M, Oya Y, Yamanaka G, Takahashi I, Nonaka I, Noguchi S, Nishino I.
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. Mol Genet Genomic Med. 2019 Mar 18:e621. [Epub ahead of print]
Seki M, Uruha A, Ohnuki Y, Kamada S, Noda T, Onda A, Ohira M, Isami A, Hiramatsu S, Hibino M, Nakane S, Noda S, Yutani S, Hanazono A, Yaguchi H, Takao M, Shiina T, Katsuno M, Nakahara J, Matsubara S, Nishino I, Suzuki S.
Inflammatory myopathy associated with PD-1 inhibitors. J Autoimmun. 2019 Mar 9. [Epub ahead of print]
Matsumoto C, Mori-Yoshimura M, Noguchi S, Endo Y, Oya Y, Murata M, Nishino I, Takahashi Y.
Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation. Brain Dev. 2019 May;41(5):470-473. Epub 2019 Mar 4.
Pogoryelova O, Wilson IJ, Mansbach H, Argov Z, Nishino I, Lochmüller H.
GNE genotype explains 20% of phenotypic variability in GNE myopathy. Neurol Genet. 2019 Feb 1;5(1):e308. eCollection
Nakamura K, Shibuya K, Nishino I, Kuwabara S.
Dropped Head in Sporadic Late-onset Nemaline Myopathy. Intern Med. 2019 Feb 25. [Epub ahead of print]
Onda A, Miyagawa S, Takahashi N, Gochi M, Takagi M, Nishino I, Suzuki S, Oishi C, Yaguchi H.
Pembrolizumab-induced Ocular Myasthenia Gravis with Anti-titin Antibody and Necrotizing Myopathy. Intern Med. 2019 Feb 1. [Epub ahead of print]
Ozawa K, Mochizuki K, Manabe Y, Yoshikura N, Shimohata T, Nishino I, Goto YI.
Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome. Doc Ophthalmol. 2019 Apr;138(2):147-152. Epub 2019 Jan 30.
Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J.
Correction: GNE myopathy in Chinese population: hotspot and novel mutations. J Hum Genet. 2019 Mar;64(3):269.
Mukai T, Mori-Yoshimura M, Nishikawa A, Hokkoku K, Sonoo M, Nishino I, Takahashi Y.
Emery-Dreifuss Muscular Dystrophy-Related Myopathy with TMEM43 Mutations. Muscle Nerve. 2019 Feb;59(2):E5-E7. Epub 2018 Nov 13.