Matsukawa T, Eguchi K, Nishino I, Okada K, Oshimi K, Miyagishima T.
Light-chain amyloid myopathy isolated to skeletal muscles: A case report. Clin Case Rep. 2020 Sep 8;8(12):2869-2873. eCollection 2020 Dec.
Fukazawa R, Cho M, Hidaka Y, Takezawa H, Ogasawara M, Nishino I, Fujii A.
A case of sporadic late‐onset nemaline myopathy without monoclonal gammopathy of unknown significance/human immunodeficiency virus successfully treated with intravenous gamma globulin. Clin Exp Neuroimmunol. Online. 2020 Nov.
Ogasawara M, Nakagawa E, Takeshita E, Hamanaka K, Miyatake S, Matsumoto N, Sasaki M.
Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report. Mol Syndromol. 2020 Nov;11(4):232-237. Epub 2020 Sep 1.
Ikeda T, Takeuchi H, Takahashi K, Nakamura H, Kunii M, Katsumoto A, Tada M, Higashiyama Y, Hibiya T, Suzuki S, Nishino I, Koyano S, Doi H, Tanaka F.
Tonsillectomy Improved Therapeutic Response in Anti-SRP Myopathy With Chronic Tonsillitis. Front Immunol. 2020 Nov 24;11:595480. eCollection 2020.
Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I.
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. Acta Neuropathol Commun. 2020 Nov 25;8(1):204.
Donkervoort S, Kutzner CE, Hu Y, Lornage X, Rendu J, Stojkovic T, Baets J, Neuhaus SB, Tanboon J, Maroofian R, Bolduc V, Mroczek M, Conijn S, Kuntz NL, Töpf A, Monges S, Lubieniecki F, McCarty RM, Chao KR, Governali S, Böhm J, Boonyapisit K, Malfatti E, Sangruchi T, Horkayne-Szakaly I, Hedberg-Oldfors C, Efthymiou S, Noguchi S, Djeddi S, Iida A, di Rosa G, Fiorillo C, Salpietro V, Darin N, Fauré J, Houlden H, Oldfors A, Nishino I , de Ridder W, Straub V, Pokrzywa W, Laporte J, Foley AR, Romero NB, Ottenheijm C, Hoppe T, Bönnemann CG.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores. Am J Hum Genet. 2020 Dec 3;107(6):1078-1095. Epub 2020 Nov 19.
Morimoto N, Morimoto M, Takahashi Y, Takamiya M, Nishino I, Abe K.
A case of type 1 facioscapulohumeral muscular dystrophy (FSHD) with restrictive ventilatory defect and congestive heart failure. eNeurologicalSci. 2020 Oct 15;21:100284. eCollection 2020 Dec.
Ogasawara M, Ogawa M, Nonaka I, Hayashi S, Noguchi S, Nishino I.
Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease. J Neuropathol Exp Neurol. 2020 Dec 4;79(12):1370-1375.
Sugihara H, Teramoto N, Nakamura K, Shiga T, Shirakawa T, Matsuo M, Ogasawara M, Nishino I, Matsuwaki T, Nishihara M, Yamanouchi K.
Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy. Sci Rep. 2020 Oct 12;10(1):16385.
Kitazawa M, Hayashi S, Imamura M, Takeda S, Oishi Y, Kaneko-Ishino T, Ishino F.
Deficiency and overexpression of Rtl1 in the mouse cause distinct muscle abnormalities related to Temple and Kagami-Ogata syndromes. Development. 2020 Sep 2;147(21):dev185918.
Sanz-Morello B, Pfisterer U, Winther Hansen N, Demharter S, Thakur A, Fujii K, Levitskii SA, Montalant A, Korshunova I, Mammen PP, Kamenski P, Noguchi S, Aldana BI, Hougaard KS, Perrier JF, Khodosevich K.
Complex IV subunit isoform COX6A2 protects fast-spiking interneurons from oxidative stress and supports their function. EMBO J. 2020 Sep 15;39(18):e105759. Epub 2020 Aug 3.
Yoshioka W, Miyasaka N, Okubo R, Shimizu R, Takahashi Y, Oda Y, Nishino I, Nakamura H, Mori-Yoshimura M.
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan. Orphanet J Rare Dis. 2020 Sep 11;15(1):245.
Ohara M, Saito Y, Watanabe M, Mizutani S, Kobayashi M, Iida A, Nishino I, Fujigasaki H.
An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant. eNeurologicalSci. 2020 Aug 26;21:100268. eCollection 2020 Dec.
Hamaguchi M, Kokubun N, Inoue M, Komagamine T, Aoki R, Nishino I, Hirata K.
A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy. Neuromuscul Disord. 2020 Sep;30(9):727-731. Epub 2020 Aug 1.
Tanboon J, Uruha A, Stenzel W, Nishino I.
Where are we moving in the classification of idiopathic inflammatory myopathies? Curr Opin Neurol.2020 Oct;33(5):590-603.
Oyama M, Ohnuki Y, Inoue M, Uruha A, Yamashita S, Yutani S, Tanboon J, Nakahara J, Suzuki S, Shiina T, Nishino I, Suzuki S.
HLA-DRB1 allele and autoantibody profiles in Japanese patients with inclusion body myositis. PLoS One. 2020 Aug 18;15(8):e0237890. eCollection 2020.
Indrawati LA, Iida A, Tanaka Y, Honma Y, Mizoguchi K, Yamaguchi T, Ikawa M, Hayashi S, Noguchi S, Nishino I.
Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES. Neuromuscul Disord. 2020 Aug;30(8):674-679. Epub 2020 Jun 13.
Fuseya Y, Sakurai T, Miyahara JI, Sato K, Kaji S, Saito Y, Takahashi M, Nishino I, Fukuda T, Sugie H, Yamashita H.
A Case of Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations. Intern Med. 2020 Nov 1;59(21):2729-2732. Epub 2020 Jul 14.
Liang WC, Wang CH, Chen WZ, Kuo YT, Lin HF, Suzuki S, Nishino I, Jong YJ.
Treatment experience of Taiwanese patients with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy. Kaohsiung J Med Sci. 2020 Aug;36(8):649-655. Epub 2020 Jul 14.
Mori-Yoshimura M, Oya Y, Komaki H, Segawa K, Minami N, Saito Y, Nishino I, Takahashi Y.
Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report. J Neuromuscul Dis. 2020;7(4):425-431.
Saito Y, Nishikawa A, Iida A, Mori-Yoshimura M, Oya Y, Ishiyama A, Komaki H, Nakamura S, Fujikawa S, Kanda T, Yamadera M, Sakiyama H, Hayashi S, Nonaka I, Noguchi S, Nishino I.
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features. Neurology. 2020 Sep 15;95(11):e1500-e1511. Epub 2020 Jul 9.
Moulay G, Lainé J, Lemaître M, Nakamori M, Nishino I, Caillol G, Mamchaoui K, Julien L, Dingli F, Loew D, Bitoun M,Leterrier C, Furling D, Vassilopoulos S.
Alternative Splicing of Clathrin Heavy Chain Contributes to the Switch From Coated Pits to Plaques. J Cell Biol. 2020 Sep 7;219(9):e201912061.
Liang WC, Jong YJ, Wang CH, Wang CH, Tian X, Chen WZ, Kan TM, Minami N, Nishino I, Wong LC.
Clinical, Pathological, Imaging, and Genetic Characterization in a Taiwanese Cohort With Limb-Girdle Muscular Dystrophy. Orphanet J Rare Dis. 2020 Jun 23;15(1):160.
Kinboshi M, Nakaoka H, Morimoto Y, Yoshida T, Kuzume D, Shiraga M, Ishida M, Yamasaki M, Saito Y, Nishino I.
Collagen Ⅵ‐related myopathy with subacute presentation of hypercapnic respiratory failure following pneumonia. Neurol Clin Neurosci. 2020 Sep 20;8(5):320-322.
Yokota Y, Hara M, Akimoto T, Mizoguchi T, Goto YI, Nishino I, Kamei S, Nakajima H.
Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report. BMC Neurol. 2020 Jun 17;20(1):247.
Samukawa M, Nakamura N, Hirano M, Morikawa M, Sakata H, Nishino I, Izumi R, Suzuki N, Kuroda H, Shiga K, Saigoh K, Aoki M, Kusunoki S.
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review. Eur Neurol. 2020;83(3):317-322. Epub 2020 Jun 19.
Cotta A, Carvalho E, da-Cunha-Junior AL, Navarro MM, Menezes MM, Paim JF, Valicek J, Lima MI, Velloso-Filho R, Freire-Lyra MH, Takata RI, Inoue M, Okubo M, Iida A, Nishino I.
Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families. J Neurol Sci. 2020 Aug 15;415:116977. Epub 2020 Jun 5.
Komaki R, Hashimoto Y, Mori-Yoshimura M, Oya Y, Takizawa H, Minami N, Nishino I, Aoki Y, Takahashi Y.
Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report. J Hum Genet. 2020 Oct;65(10):903-909. Epub 2020 Jun 5.
Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM.
Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology.2020 Jun 9;94(23):e2441-e2447. Epub 2020 May 28.
Sasaki R, Ohta Y, Tadokoro K, Matsumoto N, Nomura E, Omote Y, Takemoto M, Hishikawa N, Yamashita T, Kumutpongpanich T, Nishino I, Abe K.
TTN missense variants in two siblings with asymmetric facial and limb weakness. J Neurol Sci. 2020 Aug 15;415:116885. Epub 2020 May 7.
Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z.
Expansion of GGC Repeat in GIPC1 Is Associated With Oculopharyngodistal Myopathy. Am J Hum Genet. 2020 Jun 4;106(6):793-804. Epub 2020 May 14.
Okazaki T, Matsuura K, Kasagi N, Adachi K, Kai M, Okubo M, Nishino I, Nanba E, Maegaki Y.
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants. Hum Genome Var. 2020 Apr 20;7(1):12.
Inoue M, Tanboon J, Hirakawa S, Komaki H, Fukushima T, Awano H, Tajima T, Yamazaki K, Hayashi R, Mori T, Shibuya K, Yamanoi T, Yoshimura H, Ogawa T, Katayama A, Sugai F, Nakayama Y, Yamaguchi S, Hayashi S, Noguchi S, Tachimori H, Okiyama N, Fujimoto M, Nishino I.
Association of Dermatomyositis Sine Dermatitis and With Anti-Nuclear Matrix Protein 2 Autoantibodies. JAMA Neurol. 2020 Jul 1;77(7):872-877.
Kobayashi I, Akioka S, Kobayashi N, Iwata N, Takezaki S, Nakaseko H, Sato S, Nishida Y, Nozawa T, Yamasaki Y, Yamazaki K, Arai S, Nishino I, Mori M.
Clinical practice guidance for juvenile dermatomyositis (JDM) 2018-Update. Mod Rheumatol. 2020 May;30(3):411-423. Epub 2020 Feb 3.
Taira K, Yamamoto T, Mori-Yoshimura M, Fujita S, Oya Y, Nishino I, Takahashi Y.
Obstruction-related dysphagia in inclusion body myositis: Cricopharyngeal bar on videofluoroscopy indicates risk of aspiration. J Neurol Sci. 2020 Jun 15;413:116764. Epub 2020 Feb 29.
Ayaki T, Murata K, Kanazawa N, Uruha A, Ohmura K, Sugie K, Kasagi S, Li F, Mori M, Nakajima R, Sasai T, Nishino I,Satoshi U, Makoto U, Fukumi F, Ito H, Takahashi R.
Myositis with sarcoplasmic inclusions in Nakajo-Nishimura syndrome: a genetic inflammatory myopathy. Neuropathol Appl Neurobiol.2020 Oct;46(6):579-587. Epub 2020 Mar 25.
Kawazoe T, Uruha A, Mori-Yoshimura M, Saito Y, Ikeda SI, Saji M, Tanimura A, Amano T, Okamoto T, Oya Y, Murata M, Nishino I, Takahashi Y.
A 67-Year-Old Man with Leg Weakness and Hypertrophic Cardiomyopathy. Brain Pathol. 2020 Mar;30(2):427-428.
Taminato T, Mori-Yoshimura M, Miki J, Sasaki R, Sato N, Oya Y, Nishino I, Takahashi Y.
Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review. J Neuromuscul Dis. 2020 Mar;7(2):193-201.
Takeuchi F, Nakamura H, Yonemoto N, Komaki H, Rosales RL, Kornberg AJ, Bretag AH, Dejthevaporn C, Goh KJ, Jong YJ, Kim DS, Khadilkar SV, Shen D, Wong KT, Chai J, Chan SH, Khan S, Ohnmar O, Nishino I , Takeda S, Nonaka I.
Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania. Brain Dev. 2020 Mar;42(3):277-288. Epub 2020 Jan 21.
Kobayashi I, Akioka S, Kobayashi N, Iwata N, Takezaki S, Nakaseko H, Sato S, Nishida Y, Nozawa T, Yamasaki Y, Yamazaki K, Arai S, Nishino I, Mori M.
Clinical practice guidance for juvenile dermatomyositis (JDM) 2018-Update. Mod Rheumatol.2020 May;30(3):411-423.Epub 2020 Feb 3.
Hara A, Amano R, Yokote H, Ijima M, Zeniya S, Uchihara T, Yada S, Masumura M, Takei H, Nishino I, Toru S.
Secondary cardiac involvement in anti-SRP-antibody-positive myopathy: an 87-year-old woman with heart failure symptoms as the first clinical presentation. BMC Neurol. 2020 Jan 17;20(1):29.
Okubo M, Noguchi S, Hayashi S, Nakamura H, Komaki H, Matsuo M, Nishino I.
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy. Hum Genet. 2020 Feb;139(2):247-255. Epub 2020 Jan 9.
Wesner N, Uruha A, Suzuki S, Mariampillai K, Granger B, Champtiaux N, Rigolet A, Schoindre Y, Lejeune S, Guillaume-Jugnot P, Vautier M, Hervier B, Simon A, Granier F, Gallay L, Nishino I, Benveniste O, Allenbach Y.
Anti-RNP antibodies delineate a subgroup of myositis: A systematic retrospective study on 46 patients. Autoimmun Rev.2020 Mar;19(3):102465. Epub 2020 Jan 7.
Lin TY, Chen AD, Chang CH, Liang WC, Minami N, Nishino I, Lai CS.
Severe Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation. Ann Plast Surg. 2020 Jan;84(1S Suppl 1):S84-S88.
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. 2020 Jan;42(1):93-97. Epub 2019 Sep 18.
Shimizu T, Kondo Y, Kanazawa N, Kaneko A, Tominaga N, Nagai M, Iizuka T, Nishino I, Nishiyama K.
Anti-HMGCR myopathy following acute Epstein-Barr virus infection. Muscle Nerve. 2020 Jan;61(1):E5-E8. Epub 2019 Oct 22.
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. 2020 Jan;61(1):81-87. Epub 2019 Nov 8.
El Sherif R, Hussein RS, Nishino I.
"Boule du biceps" in dysferlinopathy. Neurology. 2020 Jan 14;94(2):83-84. Epub 2019 Dec 10.
Palmio J, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, Vihola A, Jokela M, Nakagawa M, Noguchi S, Olivé M, Masingue M, Kerty E, Hackman P, Weihl CC, Nishino I , Udd B.
Mutations in the J domain of DNAJB6 cause dominant distal myopathy. Neuromuscul Disord. 2020 Jan;30(1):38-46. Epub 2019 Nov 19.