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 Apr 8:101431. [Online ahead of print]
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 Mar 28;50:105346. [Online ahead of print]
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.
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.
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.