Nishimori Y, Iida A, Ogasawara M, Okubo M, Yonenobu Y, Kinoshita M, Sugie K, Noguchi S, Nishino I.
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis. Neurol Genet. 2021 Dec 17;8(1):e649. eCollection 2022 Feb.
Harada A, Goto M, Kato A, Takenaka-Ninagawa N, Tanaka A, Noguchi S, Ikeya M, Sakurai H.
Systemic Supplementation of Collagen VI by Neonatal Transplantation of iPSC-Derived MSCs Improves Histological Phenotype and Function of Col6-Deficient Model Mice. Front Cell Dev Biol. 2021 Nov 23;9:790341. eCollection 2021.
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase. Brain. 2021 Oct 22;144(9):2722-2731.
Matsumura T, Inoue K, Toyooka K, Inoue M, Iida A, Saito Y, Nishikawa T, Moriuchi K, Beck G, Nishino I, Fujimura H.
Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors. Neuromuscul Disord. 2021 Dec;31(12):1282-1286. Epub 2021 Oct 9.
Inoue M, Noguchi S, Sonehara K, Nakamura-Shindo K, Taniguchi A, Kajikawa H, Nakamura H, Ishikawa K, Ogawa M, Hayashi S, Okada Y, Kuru S, Iida A, Nishino I.
A recurrent homozygous ACTN2 variant associated with core myopathy. Acta Neuropathol. 2021 Oct;142(4):785-788. Epub 2021 Sep 1.
Liu L, Koike H, Ono T, Hayashi S, Kudo F, Kaneda A, Kagechika H, Manabe I, Nakashima T, Oishi Y.
Identification of a KLF5-dependent program and drug development for skeletal muscle atrophy. Proc Natl Acad Sci U S A. 2021 Aug 31;118(35):e2102895118.
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. Epub 2021 Aug 28.
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.
Yasui T, Nagaoka U, Oya Y, Uruha A, Karashima J, Funai A, Miyamoto K, Matsubara S, Sugaya K, Takahashi K, Inoue M, Okubo M, Sugie K, Nishino I.
Mild form of Danon disease: two case reports. Neuromuscul Disord. 2021 Nov;31(11):1207-1211. Epub 2021 Jul 31.
Motoda A, Takahashi T, Watanabe C, Tachiyama Y, Ochi K, Saito Y, Iida A, Nishino I, Maruyama H.
An autopsied case of ADSSL1 myopathy. Neuromuscul Disord. 2021 Nov;31(11):1220-1225. Epub 2021 Jul 20.
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.
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.
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.
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.
Matsubara T, Saito Y, Kurashige T, Higashihara M, Hasegawa F, Ogasawara M, Iida A, Nishino I, Adachi T, Kubota A, Murayama S.
Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report. eNeurologicalSci. 2021 Jun 4;24:100348. eCollection 2021 Sep.
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.
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.
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.
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.
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 Oct;66(10):965-972. Epub 2021 Mar 20.
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. 2021 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.
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.
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.
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.
Tanboon J, Nishino I.
COVID-19-associated myositis may be dermatomyositis. Muscle Nerve. 2021 Jan;63(1):E9-E10. Epub 2020 Nov 15.
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.
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.
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.
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.
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.