Awano H, Saito Y, Shimizu M, Sekiguchi K, Niijima S, Matsuo M, Maegaki Y, Izumi I, Kikuchi C, Ishibashi M, Okazaki T, Komaki H, Iijima K, Nishino I.
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients. J Clin Neurosci. 2021 Oct; 92: 215-221.
Kawazoe T, Tobisawa S, Sugaya K, Uruha A, Miyamoto K, Komori T, Goto YI, Nishino I, Yoshihashi H, Mizuguchi T, Matsumoto N, Egawa N, Kawata A, Isozaki E.
Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions. Intern Med. 2021 Aug 24. [Online ahead of print]
Takenaka-Ninagawa N, Kim J, Zhao M, Sato M, Jonouchi T, Goto M, Yoshioka CKB, Ikeda R, Harada A, Sato T, Ikeya M, Uezumi A, Nakatani M, Noguchi S, Sakurai H.
Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice. Stem Cell Res Ther. 2021 Aug 9;12(1):446.
Yamazawa T, Kobayashi T, Kurebayashi N, Konishi M, Noguchi S, Inoue T, Inoue YU, Nishino I, Mori S, Iinuma H, Manaka N, Kagechika H, Uryash A, Adams J, Lopez JR, Liu X, Diggle C, Allen PD, Kakizawa S, Ikeda K, Lin B, Ikemi Y, Nunomura K, Nakagawa S, Sakurai T, Murayama T.
A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke. Nat Commun. 2021 Jul 13;12(1):4293.
Nishii YS, Noto YI, Yasuda R, Kitaoji T, Ashida S, Tanaka E, Minami N, Nishino I, Mizuno T.
A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation. BMC Neurol. 2021 Jul 5;21(1):265.
Fujise K, Okubo M, Abe T, Yamada H , Nishino I, Noguchi S, Takei K, Takeda T.
Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy. J Biol Chem. 2021 Jan-Jun;296:100077. Epub 2020 Nov 21.
Takizawa H, Mori-Yoshimura M, Minami N, Murakami N, Yatabe K, Taira K, Hashimoto Y, Aoki Y, Nishino I, Takahashi Y.
A symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophy. Neuromuscul Disord. 2021 Jul;31(7):666-672. Epub 2021 Apr 27.
Inoue M, Saito Y, Yonekawa T, Ogawa M, Iida A, Nishino I, Noguchi S.
Causative variant profile of collagen VI-related dystrophy in Japan. Orphanet J Rare Dis. 2021 Jun 24;16(1):284.
Ichimura Y, Konishi R, Shobo M, Inoue S, Okune M, Maeda A, Tanaka R, Kubota N, Matsumoto I, Ishii A, Tamaoka A, Shimbo A, Mori M, Morio T, Kishi T, Miyamae T, Tanboon J, Inoue M, Nishino I, Fujimoto M, Nomura T, Okiyama N.
Anti-nuclear matrix protein 2 antibody-positive inflammatory myopathies represent extensive myositis without dermatomyositis-specific rash. Rheumatology (Oxford). 2021 Jun 21:keab518. [Online ahead of print]
Tanboon J, Uruha A, Arahata Y, Dittmayer C, Schweizer L, Goebel HH, Nishino I, Stenzel W.
Inflammatory features in sporadic late-onset nemaline myopathy are independent from monoclonal gammopathy. Brain Pathol. 2021 May;31(3):e12962.
Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I and OPDM_LRP12 Study Group.
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes. JAMA Neurol. 2021 Jul 1;78(7):853-863.
Asaoka K, Watanabe Y, Itoh K, Hosono N, Hirota T, Ikawa M, Yamaguchi T, Hatta S, Imamura Y, Nishino I, Yamauchi T, Iwasaki H.
A case of eosinophilic fasciitis without skin manifestations: A case report in a patient with lupus and literature review. Clin Rheumatol. 2021 Jun;40(6):2477-2483. Epub 2020 Sep 24.
Nogami K, Maruyama Y, Sakai-Takemura F, Motohashi N, Elhussieny A, Imamura M, Miyashita S, Ogawa M, Noguchi S, Tamura Y, Kira JI, Aoki Y, Takeda S, Miyagoe-Suzuki Y.
Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice. Hum Mol Genet. 2021 May 31;30(11):1006-1019.
Lee T, Tokunaga S, Taniguchi N, Misaki M, Shimomura H, Nishino I, Itoh K, Takeshima Y.
Underlying diseases in sporadic presentation of high creatine kinase levels in girls. Clin Chim Acta.2021 Aug;519:198-203. Epub 2021 May 7.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB.
A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 May 6;108(5):840-856. Epub 2021 Apr 15.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021 Jun 22;144(5):1451-1466.
Takahashi F, Sawada J, Minoshima A, Sakamoto N, Ono T, Akasaka K, Takei H, Nishino I, Hasebe N.
Antimitochondrial Antibody-associated Myopathy with Slowly Progressive Cardiac Dysfunction. Intern Med. 2021 Apr 1;60(7):1035-1041. Epub 2020 Oct 28.
Inoue-Shibui A, Niihori T, Kobayashi M, Suzuki N, Izumi R, Warita H, Hara K, Shirota M, Funayama R, Nakayama K, Nishino I, Aoki M, Aoki Y.
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy. J Hum Genet. 2021 Mar 20. [Online ahead of print]
Kataoka S, Kawashima N, Okuno Y, Muramatsu H, Miwata S, Narita K, Hamada M, Murakami N, Taniguchi R, Ichikawa D, Kitazawa H, Suzuki K, Nishikawa E, Narita A, Nishio N, Yamamoto H, Fukasawa Y, Kato T, Yamamoto H, Natsume J, Kojima S, Nishino I, Taketani T, Ohnishi H, Takahashi Y.
Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor. J Allergy Clin Immunol. 2021 Aug;148(2):639-644. Epub 2021 Mar 13.
Bardhan M, Polavarapu K, Bevinahalli NN, Veeramani PK, Anjanappa RM, Arunachal G, Shingavi L, Vengalil S, Nashi S, Chawla T, Nagabushana D, Mohan D, Horvath R, Nishino I, Atchayaram N.
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. J Hum Genet. 2021 Aug;66(8):813-823. Epub 2021 Mar 12.
Sugiyama A, Onishi Y, Ito K, Shibuya K, Nakamura K, Oda F, Nishino I, Suzuki S, Kuwabara S.
Marked Respiratory Failure in an Ambulant Patient with Immune-mediated Necrotizing Myopathy and Anti-Kv1.4 and Anti-titin Antibodies. Intern Med. 2021 Aug 15;60(16):2671-2675. Epub 2021 Mar 1.
Ono E, Ishii A, Higashi Y, Koita N, Ayaki T, Tanigaki K, Takayanagi S, Kondo N, Sakai K, Endo S, Yokoi H, Matsubara T, Minamiguchi S, Nishino I, Takahashi R, Yanagita M.
Monoclonal gammopathy of renal significance (MGRS)-related AL amyloidosis complicated by amyloid myopathy: a case report. BMC Nephrol. 2021 Feb 27;22(1):74.
Matsuzono K, Kumutpongpanich T, Kubota K, Okuyama T, Furuya K, Yagisawa T, Horikiri A, Igarashi T, Miura K, Ozawa T, Mashiko T, Shimazaki H, Koide R, Tanaka R, Shimizu H, Imai Y, Kario K, Nishino I, Fujimoto S.
Noteworthy Cardiovascular Involvement with Sporadic Late-onset Nemaline Myopathy. Intern Med. 2021 Jul 15;60(14):2327-2332. Epub 2021 Feb 22.
Amato AA, Hanna MG, Machado PM, Badrising UA, Chinoy H, Benveniste O, Karanam AK, Wu M, Tankó LB, Schubert-Tennigkeit AA, Papanicolaou DA, Lloyd TE, Needham M, 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, Aoki M, Katsuno M, Morihata H, Murata K, Nodera H, Nishino I, Romano CD, Williams VSL, Vissing J, Auberson LZ; RESILIENT Study Extension Group.
Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-Term Extension of RESILIENT. Neurology.Mar 23;96(12):e1595-e1607. Epub 2021 Feb 17.
Taira K, Mori-Yoshimura M, Yamamoto T, Sajima K, Takizawa H, Shinmi J, Oya Y, Nito T, Nishino I, Takahashi Y.
More prominent fibrosis of the cricopharyngeal muscle in inclusion body myositis. J Neurol Sci.2021 Mar 15;422:117327. Epub 2021 Jan 23.
Kano K, Yamanaka G, Muramatsu K, Morichi S, Ishida Y, Takamatsu T, Suzuki S, Miyajima T, Nakagawa E, Nishino I, Kawashima H.
Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review. Am J Med Genet A. 2021 Feb;185(2):579-583. Epub 2020 Nov 30.
Hayashi Y, Iwasaki Y, Yoshikura N, Yamada M, Kimura A, Inuzuka T, Miyahara H, Goto Y, Nishino I, Yoshida M, Shimohata T.
Clinicopathological findings of a mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome overlap patient with a novel m.3482A>G mutation in MT-ND1. Neuropathology. 2021 Feb;41(1):84-90. Epub 2020 Dec 9.
Tanboon J, Inoue M, Hirakawa S, Tachimori H, Hayashi S, Noguchi S, Suzuki S, Okiyama N, Fujimoto M, Nishino I.
Pathological features of anti-Mi-2 dermatomyositis. Neurology. 2021 Jan 19;96(3):e448-e459. Epub 2020 Dec 4.
Toki T, Shimizu-Motohashi Y, Komaki H, Takeshita E, Ishiyama A, Saito T, Mori-Yoshimura M, Sumitomo N, Hirasawa-Inoue A, Nakagawa E, Nishino I, Goto YI, Sasaki M.
Hyperglycemic Crisis in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS). Pediatr Neurol. 2021 Jan;114:1-4. Epub 2020 Sep 30.
Tanboon J, Nishino I.
COVID-19-associated myositis may be dermatomyositis. Muscle Nerve. 2021 Jan;63(1):E9-E10. Epub 2020 Nov 15.
Taira K, Yamamoto T, Mori-Yoshimura M, Sajima K, Takizawa H, Shinmi J, Oya Y, Nishino I, Takahashi Y.
Cricopharyngeal bar on videofluoroscopy: high specificity for inclusion body myositis. J Neurol.2021 Mar;268(3):1016-1024. Epub 2020 Sep 26.
Ando T, Nakamura R, Kuru S, Yokoi D, Atsuta N, Koike H, Suzuki M, Hara K, Iguchi Y, Harada Y, Yoshida Y, Hattori M, Murakami A, Noda S, Kimura S, Sone J, Nakamura T, Goto Y, Mano K, Okada H, Okuda S, Nishino I, Ogi T, Sobue G, Katsuno M.
The wide-ranging clinical and genetic features in Japanese families with valosin-containing protein proteinopathy. Neurobiol Aging. 2021 Apr;100:120.e1-120.e6. Epub 2020 Nov 14.