Oldroyd AGS, Callen JP, Chinoy H, Chung L, Fiorentino D, Gordon P, Machado PM, McHugh N, Selva-O’Callaghan A, Schmidt J, Tansley SL, Vleugels RA, Werth VP; International Myositis Assessment and Clinical Studies Group Cancer Screening Expert Group; Amato AA, Anderson H, Andrade-Ortega L, Ascherman DP, Benveniste O, Cavagna L, Charles-Shoeman C, Chong BF, Christopher-Stine L, Clarke JT, Crosbie EJ, Crosbie PAJ, Danoff S, Dastmalchi M, de Visser M, Dellaripa PF, Diederichsen LP, Dimachkie MM, Ensrud E, Ernste FC, Evans DGR, Fujimoto M, García-De La Torre I, García-Kutzbach A, Griger Z, Gupta L, Hudson M, Iannone F, Isenberg D, Jorizzo JL, Kurtz HE, Kuwana M, Limaye V, Lundberg IE, Mammen AL, Mann H, Mastaglia FL, McWilliams L, Mecoli CA, Meloni F, Miller FW, Moghadam-Kia S, Moiseev SK, Muro Y, Nagy-Vincze M, Naylor CN, Needham M, Nishino I, Oddis CV, Paik JJ, Raaphorst J, Rider LG, Rojas-Serrano J, Saketkoo LA, Schiffenbauer A, Shinjo SK, Shobha V, Song YW, Tillett T, Troyanov Y, van der Kooi AJ, Vázquez-Del Mercado M, Vencovský J, Wang Q, Ytterberg SR; Aggarwal R.
International Guideline for Idiopathic Inflammatory Myopathy-Associated Cancer Screening: an International Myositis Assessment and Clinical Studies Group (IMACS) initiative. Nat Rev Rheumatol. 19(12):805-817. Dec, 2023. Epub 2023 Nov 9. (Review)
Maruo Y, Saito Y, Nishino I, Takeda A.
Successful treatment of frequent premature ventricular contractions and non-sustained ventricular tachycardia with verapamil and flecainide in RYR1-related myopathy: a case report. Eur Heart J Case Rep. 2023 Oct 13;7(10):ytad509. eCollection 2023 Oct.
Eura N, Noguchi S, Ogasawara M, Kumutpongpanich T, Hayashi S, Nishino I; OPDM/OPMD Image Study Group.
Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy. J Neurol. 2023 Dec;270(12):5988-5998. Epub 2023 Aug 27.
Esteller D, Schiava M, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schöser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis. J Neurol. 2023 Dec;270(12):5849-5865. Epub 2023 Aug 21.
Schiava M, Ikenaga C, Topf A, Caballero-Ávila M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar-Quiles R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas-Morales R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini-Bettolo C, Diaz-Manera J, Weihl CC.
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy. Neurol Genet. 2023 Aug 15;9(5):e200093. eCollection 2023 Oct.
Mori-Yoshimura M, Suzuki N, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M.
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan. Orphanet J Rare Dis. 2023 Aug 11;18(1):241.
Tanboon J, Needham M, Mozaffar T, Stenzel W, Nishino I.
Editorial: Inflammatory muscle diseases: an update. Front Neurol. 14:1259275. Aug, 2023. eCollection 2023. (Review)
Fujita Y, Kuwashima S, Sakurai R, Suzuki A, Imataka G, Matsuda H, Ishida K, Matsushita T, Nishino I, Yoshihara S.
Whole-body MRI revealed generalized subcutaneous oedema in a patient with juvenile dermatomyositis. Rheumatol Adv Pract. 2023 Jul 28;7(2):rkad063. eCollection 2023.
Nomiya H, Hamano T, Takaku N, Sasaki H, Usui K, Sanada S, Yamaguchi T, Kitazaki Y, Endo Y, Kamisawa T, Enomoto S, Shirafuji N, Matsunaga A, Ueno A, Ikawa M, Yamamura O, Hasegawa M, Kimura H, Nishino I, Nakamoto Y.
Magnetic resonance imaging findings of the lower limb muscles in anti-mitochondrial M2 antibody-positive myositis. Neuromuscul Disord. 2023 Sep;33(9):74-80. Epub 2023 Jul 25.
Nagatomo Y, Yoshizawa S, Oya Y, Nishino I.
Anti-mitochondrial antibody-mediated myopathy with cardiac involvement: reply. Eur Heart J Case Rep. 2023 Jul 25;7(8):ytad348. eCollection 2023 Aug.
Ohara H, Hosokawa M, Awaya T, Hagiwara A, Kurosawa R, Sako Y, Ogawa M, Ogasawara M, Noguchi S, Goto Y, Takahashi R, Nishino I, Hagiwara M.
Branchpoints as potential targets of exon-skipping therapies for genetic disorders. Mol Ther Nucleic Acids. 2023 Jul 17;33:404-412. eCollection 2023 Sep 12.
Yamashita S, Tawara N, Zhang Z, Nakane S, Sugie K, Suzuki N, Nishino I, Aoki M.
Pathogenic role of anti-cN1A autoantibodies in sporadic inclusion body myositis. J Neurol Neurosurg Psychiatry. 2023 Dec;94(12):1018-1024. Epub 2023 Jul 14.
Oyama M, Ohnuki Y, Uruha A, Saito Y, Nishimori Y, Suzuki S, Inoue M, Tanboon J, Okiyama N, Shiina T, Nishino I, Suzuki S.
Association Between HLA Alleles and Autoantibodies in Dermatomyositis Defined by Sarcoplasmic Expression of Myxovirus Resistance Protein A. J Rheumatol. 2023 Sep;50(9):1159-1164. Epub 2023 Jun 15.
Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H.
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis. Am J Hum Genet. 2023 Jul 6;110(7):1086-1097. Epub 2023 Jun 19.
Haji S, Miyamoto R, Morino H, Osaki Y, Tsuji S, Nishino I, Abe M, Izumi Y.
Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion. Neurol Genet. 2023 May 9;9(3):e200070. eCollection 2023 Jun.
Tanboon J, El Sherif R, Inoue M, Okubo M, Malfatti E, Nishino I.
A 53-year-old man with a 16-year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging. Brain Pathol. 2023 Sep;33(5):e13171. Epub 2023 May 31.
Yoshida T, Yamazaki H, Nishimori Y, Takamatsu N, Fukushima K, Osaki Y, Taniguchi Y, Nozaki T, Kumon Y, Albayda J, Nishino I, Izumi Y.
Correlation of muscle ultrasound with clinical and pathological findings in idiopathic inflammatory myopathies. Muscle Nerve. 2023 Jul;68(1):39-47. Epub 2023 Apr 28.
Suzuki N, Mori-Yoshimura M, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M.
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan. J Neuromuscul Dis. 2023;10(4):555-566.
Tokuda N, Tsuji Y, Inoue M, Nishino I, Makino M.
A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile). Cureus. 2023 Apr 19; 15(4): e37824.
Terayama A, Yoshikawa K, Michiura T, Fujii K, Inada R, Mitsui Y, Nishino I, Nagai Y.
A case of thymoma-associated myasthenia gravis accompanied with myositis showing the clusters of histiocyte along the fascicles in perimysium. Clin Neurol Neurosurg. 2023 Jun;229:107715. Epub 2023 Apr 11.
Chan SHS, Nishino I.
CHKB-Related Muscular Dystrophy. GeneReviews [Internet]. 2023 Mar 30. (Review)
Motegi H, Kirino Y, Morishita R, Nishino I, Suzuki S.
Overlap syndrome with antibodies against multiple transfer-RNA components presenting antisynthetase syndrome. Neuromuscul Disord. 2023 May;33(5):405-409. Epub 2023 Mar 17.
Yamada K, Yaguchi H, Abe M, Ishikawa K, Tanaka D, Oshima Y, Kudo A, Uwatoko H, Shirai S, Takahashi-Iwata I, Matsushima M, Nishino I, Yabe I.
Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant. Clin Neurol Neurosurg. 2023 May;228:107670. Epub 2023 Mar 13.
Tanboon J, Inoue M, Hirakawa S, Tachimori H, Hayashi S, Noguchi S, Okiyama N, Fujimoto M, Suzuki S, Nishino I.
Muscle pathology of antisynthetase syndrome according to antibody subtypes. Brain Pathol. 2023 Jul;33(4):e13155. Epub 2023 Mar 7.
Yamashita S, Nagatoshi A, Takeuchi Y, Nishino I, Ueda M.
Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy. Neuropathology. 2023 Oct;43(5):408-412. Epub 2023 Mar 2.
Takahashi Y, Morimoto N, Nada T, Morimoto M, Eura N, Minami N, Nishino I.
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion. J Neuromuscul Dis. 2023;10(3):459-463.
Miyashita K, Ii Y, Matsuyama H, Niwa A, Kawana Y, Shibata S, Minami N, Nishino I, Tomimoto H.
Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient: A Case Report. Intern Med. 2023 Oct 15;62(20):3027-3031. Epub 2023 Feb 15
Ohnuki Y, Suzuki S, Uruha A, Oyama M, Suzuki S, Kulski JK, Nishino I, Shiina T.
Association of immune-mediated necrotizing myopathy with HLA polymorphisms. HLA. 2023 May;101(5):449-457. Epub 2023 Jan 15.
Sasaki R, Yunoki T, Nakano Y, Fukui Y, Takemoto M, Morihara R, Katsuyama E, Nishino I, Yamashita T.
A young female case of asymptomatic immune-mediated necrotizing myopathy: a potential diagnostic option of antibody testing for rhabdomyolysis． Neuromuscul Disord. 2023 Feb;33(2):183-186. Epub 2022 Dec 24.
Ikeda K, Yamamoto D, Usui K, Takeuchi H, Oka N, Katoh N, Yazaki M, Kametani F, Nishino I, Hisahara S.
Transthyretin Variant Amyloidosis with a TTR A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy. Intern Med. 2023 Aug 1;62(15):2261-2266. Epub 2022 Dec 21.
Inoue M, Noguchi S, Inoue YU, Iida A, Ogawa M, Bengoechea R, Pittman SK, Hayashi S, Watanabe K, Hosoi Y, Sano T, Takao M, Oya Y, Takahashi Y, Miyajima H, Weihl CC, Inoue T, Nishino I.
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4. Acta Neuropathol. 2023 Feb;145(2):235-255. Epub 2022 Dec 13.
Taira K, Mori-Yoshimura M, Yamamoto T, Oya Y, Nishino I, Takahashi Y.
Clinical characteristics of dysphagic inclusion body myositis. Neuromuscul Disord. 2023 Feb;33(2):133-138. Epub 2022 Nov 29.
Mouri M, Kanamori T, Tanaka E, Hiratoko K, Okubo M, Inoue M, Morio T, Shimizu M, Nishino I, Okiyama N, Mori M.
Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developing during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case report. Mod Rheumatol Case Rep. 2023 Jun 19;7(2):404-409.
Kurashige T, Morino H, Ueno H, Murao T, Watanabe T, Hinoi T, Nishino I, Torii T, Maruyama H.
Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients. J Hum Genet. 2023 Feb;68(2):91-95. Epub 2022 Nov 7.
Matsui N, Takahara M, Yamazaki H, Takamatsu N, Osaki Y, Kaji R, Nishino I, Yamashita S, Izumi Y.
Case of anti-NT5c1A antibody-seropositive inclusion body myositis associated with severe dysphagia and prominent forearm weakness. Neurol Clin Neurosci. 2023 Jan;11(1): 46-48.
Munekane A, Ohsawa Y, Okubo M, Nagai T, Nishimura H, Nishino I, Sunada Y.
Becker Muscular Dystrophy Accompanied by Anti-HMGCR Antibody-positive Immune-mediated Necrotizing Myopathy. Intern Med. 2023 May 1;62(9):1345-1349. Epub 2022 Sep 21.
Okubo M, Noguchi S, Awaya T, Hosokawa M, Tsukui N, Ogawa M, Hayashi S, Komaki H, Mori-Yoshimura M, Oya Y, Takahashi Y, Fukuyama T, Funato M, Hosokawa Y, Kinoshita S, Matsumura T, Nakamura S, Oshiro A, Terashima H, Nagasawa T, Sato T, Shimada Y, Tokita Y, Hagiwara M, Ogata K, Nishino I.
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy. Hum Genet. 2023 Jan;142(1):59-71. Epub 2022 Sep 1.
Kainaga M, Sasaki T, Kitamura M, Nakayama T, Masuda K, Kakuta Y, Nishino I, Imafuku I.
Inflammatory Myopathy Associated with Anti-mitochondrial Antibody-negative Primary Biliary Cholangitis Diagnosed by a Liver Biopsy: A Case Report. Intern Med. 2023 Mar 1;62(5):797-802. Epub 2022 Aug 10.