Kakiuchi K, Unoda K, Nakajima H, Nishino I, Arawaka S.
Paraspinal amyotrophy in DNM-2-related centronuclear myopathy. J Neurol Sci. 2019 Oct 16;407(2019):116537. [Epub ahead of print]
Minamiyama S, Ueda S, Nakashima R, Yamakado H, Sakato Y, Yamashita H, Sawamoto N, Fujimoto R, Nishino I, Urushitani M, Mimori T, Takahashi R.
Thigh muscle MRI findings in myopathy associated with anti-mitochondrial antibody. Muscle Nerve. 2019 Oct 6. [Epub ahead of print]
Okano S, Shimada S, Tanaka R, Okayama A, Kajihama A, Suzuki N, Nakau K, Takahashi S, Matsumoto N, Saitsu H, Tanboon J, Nishino I, Azuma H.
Life-threatening muscle complications of COL4A1-related disorder. Brain Dev. 2019 Sep 18. [Epub ahead of print]
Donkervoort S, Dowling JJ, Laporte J, MacArthur D, Bönnemann CG, Nishino I; 214th ENMC workshop participants.
214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscul Disord. 2019 Aug;29(8):644-650. Epub 2019 Jul 13.
Hanna MG, Badrising UA, Benveniste O, Lloyd TE, Needham M, Chinoy H, Aoki M, Machado PM, Liang C, Reardon KA, de Visser M, Ascherman DP, Barohn RJ, Dimachkie MM, Miller JAL, Kissel JT, Oskarsson B, Joyce NC, Van den Bergh P, Baets J, De Bleecker JL, Karam C, David WS, Mirabella M, Nations SP, Jung HH, Pegoraro E, Maggi L, Rodolico C, Filosto M, Shaibani AI, Sivakumar K, Goyal NA, Mori-Yoshimura M, Yamashita S, Suzuki N, Katsuno M, Murata K, Nodera H, Nishino I, Romano CD, Williams VSL, Vissing J, Auberson LZ, Wu M, de Vera A, Papanicolaou DA, Amato AA; RESILIENT Study Group.
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial. Lancet Neurol. 2019 Sep;18(9):834-844.
Tanboon J, Nishino I.
Classification of idiopathic inflammatory myopathies: pathology perspectives. Curr Opin Neurol. 2019 Oct;32(5):704-714.
Takeguchi-Kikuchi S, Hayasaka T, Katayama T, Kano K, Takahashi K, Saito T, Sawada J, Minoshima A, Sakamoto N, Akasaka K, Miyokawa N, Nishino I, Ishibashi-Ueda H, Hasebe N.
Anti-signal Recognition Particle Antibody-positive Necrotizing Myopathy with Secondary Cardiomyopathy: The First Myocardial Biopsy- and Multimodal Imaging-proven Case. Intern Med. 2019 Jul 10. [Epub ahead of print]
Yu M, Zhu Y, Xie Z, Zheng Y, Xiao J, Zhang W, Nishino I, Yuan Y, Wang Z.
Novel TTN mutations and muscle imaging characteristics in congenital titinopathy. Ann Clin Transl Neurol. 2019 Jul;6(7):1311-1318. Epub 2019 Jul 1.
Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S.
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet. 2019 Aug;51(8):1222-1232. Epub 2019 Jul 22.
Ueno T, Suzuki C, Nishino I, Tomiyama M.
Dropped Head Syndrome Caused by Immune-mediated Necrotizing Myopathy. Intern Med. 2019 Jul 22. [Epub ahead of print]
Suzuki N, Mori-Yoshimura M, Yamashita S, Nakano S, Murata KY, Mori M, Inamori Y, Matsui N, Kimura E, Kusaka H, Kondo T, Ito H, Higuchi I, Hashiguchi A, Nodera H, Kaji R, Tateyama M, Izumi R, Ono H, Kato M, Warita H, Takahashi T, Nishino I, Aoki M.
The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan. Orphanet J Rare Dis. 2019 Jun 26;14(1):155.
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 myxovirus resistance protein A (MxA) expression in antisynthetase syndrome in a cohort of 194 cases. Neuropathol Appl Neurobiol. 2019 Aug;45(5):523-524.
Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N.
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genet Med. 2019 Jul;21(7):1629-1638. Epub 2018 Nov 23.
Tanboon J, Sanmaneechai O, Charuvanij S, Sangruchi T, Galindo-Feria AS, Lundberg IE, Ohnuki Y, Shiina T, Suzuki S, Nishino I.
Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble. Neuromuscul Disord. 2019 Jul;29(7):543-548. Epub 2019 May 23.
Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I.
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. Ann Neurol. 2019 Aug;86(2):193-202. Epub 2019 Jul 2.
Ishitsuka Y, Inoue S, Furuta JI, Koguchi-Yoshioka H, Nakamura Y, Watanabe R, Okiyama N, Fujisawa Y, Enokizono T, Hiroko F, Suzuki H, Nishino I, Kosaki K, Fujimoto M.
Sweat Retention Anhidrosis Associated with Tubular Aggregate Myopathy. Br J Dermatol. 2019 May 30. [Epub ahead of print]
Der Vartanian A, Quétin M, Michineau S, Auradé F, Hayashi S, Dubois C, Rocancourt D, Drayton-Libotte B, Szegedi A, Buckingham M, Conway SJ, Gervais M, Relaix F.
PAX3 Confers Functional Heterogeneity in Skeletal Muscle Stem Cell Responses to Environmental Stress. Cell Stem Cell. 2019 Jun 6;24(6):958-973.e9. Epub 2019 Apr 18.
Miyazaki M, Mori-Yoshimura M, Yamamoto T, Oya Y, Saito Y, Nishino I, Takahashi Y.
Chronic sarcoid myopathy mimicking sporadic inclusion body myositis. Clin Neurol Neurosurg. 2019 Jul;182:84-86. Epub 2019 May 6.
Shimomura H, Lee T, Tanaka Y, Awano H, Itoh K, Nishino I, Takeshima Y.
Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy. Hum Genome Var. 2019 Apr 26;6:21. eCollection
Funayama K, Shimizu H, Tanaka H, Kawachi I, Nishino I, Matsui K, Takahashi N, Koyama A, Katsuragi-Go R, Higuchi R, Aoyama T, Watanabe H, Kakita A, Takatsuka H.
An autopsy case of peliosis hepatis with X-linked myotubular myopathy. Leg Med (Tokyo). 2019 Apr 18;38:77-82.
Uchino S, Iida A, Sato A, Ishikawa K, Mimaki M, Nishino I, Goto YI.
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome. Hum Genome Var. 2019 Apr 19;6:19. eCollection
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 May;29(5):401-410.
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 Jun;138(3):257-258. Epub 2019 Mar 30.
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.
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 Jun;100:105-113. Epub 2019 Mar 10.
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 Jul 1;58(13):1967-1968. Epub 2019 Feb 25.
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 Jun 1;58(11):1635-1638. Epub 2019 Feb 1.
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.
Uruha A, Allenbach Y, Charuel JL, Musset L, Aussy A, Boyer O, Mariampillai K, Landon-Cardinal O, Rasmussen C, Bolko L, Maisonobe T, Leonard-Louis S, Suzuki S, Nishino I, Stenzel W, Benveniste O.
Diagnostic potential of sarcoplasmic myxovirus resistance protein A expression in subsets of dermatomyositis. Neuropathol Appl Neurobiol. 2019 Aug;45(5):513-522.