Nakamura K, Ortuste-Quiroga HP, Horii N, Fujimaki S, Moroishi T, Nakayama KI, Hino S, Saito Y, Nishino I, Ono Y.
Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy. J Clin Invest. 2025 Jul 1:e181881. [Online ahead of print]
Elrefaei E, Yamazaki S, Yazawa I, Takahashi Y, Ito N, Hayashiji N, Nishida Y, Nishino I, Takashima S, Shintani Y.
LSMEM2, Localized at the Neuromuscular Junction, Modulates Mitochondrial Integration in Skeletal Muscles. FASEB J. 2025 Jun 30;39(12):e70609.
Kato D, Sato Y, Mitsunaga K, Aoyama H, Okiyama N, Nishino I, Tomiita M, Inoue Y.
Pediatric immune-mediated necrotizing myopathy with anti-SRP antibodies targeting 19, 68, and 72 kda subunits. Pediatr Rheumatol Online J. 2025 Jun 19;23(1):67.
Miyata A, Shijo T, Izumi R, Yamazaki E, Sugeno N, Suzuki N, Nishino I, Asano Y, Aoki M.
An HTLV-1 carrier with sporadic late-onset nemaline myopathy accompanied by skin lesions indicating indolent adult T-cell leukemia/lymphoma and Sjögren's syndrome: a case report and literature review. Neuromuscul Disord. 2025 Jun 13;52:105417. [Online ahead of print]
Kulsirichawaroj P, Chanvanichtrakool M, Wattanadilokchatkun P, Pho-Iam T, Limwongse C, Likasitwattanakul S, Boonyapisit K, Sanmaneechai O, Nishino I, Shotelersuk V, Han J, Zuchner S.
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods. Pediatr Res. 2025 Jun 10. [Online ahead of print]
Mukasa R, Ogata S, Kiyosawa N, Shibutani T, Kashimoto Y, Watanabe K, Kusama M, Takizawa H, Sato N, Nishino I, Mori-Yoshimura M.
LAG3 Is Expressed on Muscle-Infiltrating Cytotoxic T Cells, but Scarce on Circulating T Cells, in Patients With Inclusion Body Myositis. Muscle Nerve. 2025 Jun 9. [Online ahead of print]
Ohira M, Takao M, Nishino I.
Crossed Facial Muscle Atrophy in Facioscapulohumeral Muscular Dystrophy. Ann Neurol. 2025 Jul;98(1):199-200. Epub 2025 May 27.
Hama Y, Sano T, Oya Y, Matsumoto C, Nakayama Y, Saito Y, Iida A, Shibuya M, Saito Y, Nishino I, Takahashi Y, Takao M.
Two Brothers With ADSS1 Myopathy: A Report of Clinical, Radiological, and Autopsy Findings. Neuropathology. 2025 Apr 30. [Online ahead of print]
Lee SA, Ogawa M, Saito Y, Shimazaki R, Awaya T, Hosokawa M, Kurosawa R, Ohara H, Takeuchi A, Hayashi S, Goto YI, Hagiwara M, Nishino I, Noguchi S.
Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies. Genet Med. 2025 Jul;27(7):101431. Epub 2025 Apr 8.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Natera-de Benito D, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG.
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T. Brain. 2025 Apr 3:awaf116. [Online ahead of print]
Matsumura T, Hashimoto H, Takizawa H, Yoshioka W, Mori-Yoshimura M, Saito Y, Nishino I, Nakamura H.
Clinical and genetic characteristics based on the Japanese patient registry for facioscapulohumeral muscular dystrophy: a nationwide analysis. Neuromuscul Disord. 2025 May;50:105346. Epub 2025 Mar 28.
Takaku N, Hayashi K, Suzuki A, Nakaya Y, Sato M, Miura T, Nishino I, Kobayashi Y.
Dysphagia During Pharyngeal and Esophageal Phase of Seronegative Immune-Mediated Necrotizing Myopathy: A Case Report. Cureus. 2025 Mar 22;17(3):e81018. eCollection 2025 Mar.
Suzuki N, Mori-Yoshimura M, Nishino I, Aoki M.
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis. J Neuromuscul Dis. 2025 Mar;12(2):183-194. Epub 2024 Dec 20.
Nishimori Y, Tanboon J, Oyama M, Motegi H, Tomo Y, Oba M, Yamanaka A, Sugie K, Suzuki S, Hayashi S, Noguchi S, Nishino I.
Anti-mitochondrial M2 antibody-positive myositis may be an independent subtype of autoimmune myositis. J Neurol. 2025 Feb 15;272(3):206.
Funaguma S, Iida A, Saito Y, Tanboon J, De Los Reyes FV, Sonehara K, Goto YI, Okada Y, Hayashi S, Nishino I.
Retrotrans-genomics identifies aberrant THE1B endogenous retrovirus fusion transcripts in the pathogenesis of sarcoidosis. Nat Commun. 2025 Feb 7;16(1):1318.
Sumi K, Masuda T, Kondo H, Obayashi K, Takeuchi Y, Harada T, Aso Y, Nishino I, Hatakeyama K, Ikeda Y, Takahashi N, Matsubara E, Kimura N.
Cardiac involvement and anti-striational antibodies in immune-mediated necrotizing myopathy. J Neurol Sci. 2025 Mar 15;470:123414. Epub 2025 Jan 30.
Kim SH, Choi Y, Oh EK, Nishino I, Suzuki S, Suh BC, Shin HY, Kim SW, Yoon BA, Oh SI, Kim YH, Kim H, Lim YM, Baek SH, Shin JY, Seok HY, Lee SA, Choi YC, Park HJ.
Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy. J Clin Neurol. 2025 Jan;21(1):31-39.
Shimazaki R, Saito Y, Awaya T, Minami N, Kurosawa R, Hosokawa M, Ohara H, Hayashi S, Takeuchi A, Hagiwara M, Hayashi YK, Noguchi S, Nishino I.
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy. Orphanet J Rare Dis. 2025 Jan 4;20(1):1.
Dofash LNH, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, Donkervoort S, Bönnemann CG, Sud M, VanNoy GE, Mangilog BE, Pais L, O'Donnell-Luria A, Madruga-Garrido M, Scala M, Fiorillo C, Baratto S, Traverso M, Malfatti E, Bruno C, Zara F, Paradas C, Ogata K, Nishino I, Laing NG, Bryson-Richardson RJ, Cabrera-Serrano M, Ravenscroft G.
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model. Brain. 2025 May 13;148(5):1707-1722.
Sakai K, Yamada S, Higuchi Y, Nishino I.
Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset. Intern Med. 2025 May 15;64(10):1586-1590. Epub 2024 Oct 18.
Nishigaichi A, Amano Y, Sada RM, Miyake H, Maruyama W, Tagawa S, Akebo H, Hatta K, Nishino I.
A Case of Amyloid Myopathy Mimicking Anti-Mi-2 Antibody-Positive Myositis. J Gen Intern Med. 2025 Feb;40(2):479-484. Epub 2024 Sep 9.
Nishikawa Y, Hasegawa K, Abe H, Matsuzawa S, Isayama T, Nakashima R, Saito Y, Nishino I, Kuwana M.
Development of an immunoprecipitation assay for detecting anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies using a non-radioactive biotinylated recombinant protein. Clin Exp Neuroimmunol. 2025 May 8:16(2):88-97.
Naito R, Hiwa R, Inaba R, Murakami K, Kitoh A, Kaku Y, Murata T, Ichimura Y, Okiyama N, Nishino I, Shirakashi M, Onizawa H, Tsuji H, Kitagori K, Akizuki S, Nakashima R, Onishi A, Tanaka M, Yoshifuji H, Morinobu A.
A Case of Vesiculobullous Dermatomyositis with Anti-NXP-2 Antibody without Malignancy. Mod Rheumatol Case Rep. 2025 Jan 16;9(1):84-87.
Komaki S, Kubota A, Katsuse K, Kitamura A, Maeda M, Matsukawa T, Eura N, Saito Y, Nishino I, Toda T.
Response to: Calpainopathy Can Manifest Itself in Not Only Skeletal Muscle but Also the Brain and Myocardium. Intern Med. 2025 Jan 15;64(2):329. Epub 2024 May 30.