Okubo M, Ogawa M, Eura N, Inoue YU, Dewa KI, Owa T, Miyashita S, Murakami T, Nakamura H, Hayashi S, Nonaka I, Ogata K, Hoshino M, Inoue T, Nishino I, Noguchi S.
SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells. Brain. 2026 Feb 18:awaf348. [Online ahead of print]
Minekawa E, Oto Y, Muro Y, Nishino I, Fukuda T, Yoshida K, Ukichi T.
Acute muscle injury and subcutaneous edema in a patient with anti-nuclear matrix protein-2 antibody positive dermatomyositis sine dermatitis: A Case Report. Intern Med. 2026 Feb 17. [Online ahead of print]
Boivin M, Yu J, Eura N, Schmitt L, Pietri D, Grandgirard E, Goetz-Reiner P, Plassard D, Nahy C, Maglott A, Morlet B, Gao C, Lefebvre E, Philipps M, Eberling P, Pichot A, Rossolillo P, Thibault C, Oulad-Abdelghani M, Nishino I, Yang K, Wang N, Wang Z, Deng J, Charlet-Berguerand N.
GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy. Nat Genet. 2026 Feb 17. [Online ahead of print]
Johari M, Folland C, Saito Y, Oud MM, Parmar JM, Töpf A, Kurbatov S, Ampleeva M, Zakharova EY, Chekmareva IA, Shirokova KS, Atiakshin D, van Beek R, Gardeitchik T, Kamsteeg EJ, Medici E, Donker Kaat L, Nemoto J, Komaki H, Okabe T, Kimoto Y, Tokito T, Nakanowatari M, Oya Y, Bruels CC, Stafki SA, Estrella EA, Littel HR, Kunkel LM, Kang PB, Osei-Owusu I, Pais L, O'Leary M, Austin-Tse C, O'Donnell-Luria A, Mangilog B, Genetti CA, Valivullah ZM, Radio FC, D'Amico A, Ciolfi A, Tartaglia M, Perrin A, Van Goethem C, Sole G, Martin-Négrier ML, Cossée M, Milic Rasic V, Kovacevic G, Kosac A, Moreno CAM, Gontijo Camelo C, Zanoteli E, Habib C, Fahey MC, Beggs AH, Poulsen NS, Vissing J, Straub V, Savarese M, Tasca G, Voermans NC, Laing NG, Udd B, Nishino I, Ravenscroft G.
Missense variants in TUBA4A cause myo-tubulinopathies. Brain. 2026 Feb 12:awag059. [Online ahead of print]
Murakami A, Abe H, Kikuchi T, Kidani S, Nishikawa Y, Isayama T, Matsuzawa S, Sato S, Nakashima R, Okiyama N, Fujimoto M, Nishino I, Kuwana M.
Development of enzyme-linked immunosorbent assays for the detection of myositis-specific autoantibodies against signal recognition particle, nuclear matrix protein 2, and small ubiquitin-like modifier activating enzyme. Mod Rheumatol. 2026 Feb 10:roag003. [Online ahead of print]
Iida A, Funaguma S, Nishino I.
Ectopic co-expression of canonical and LINE1 and THE1A-exonizing IL23R transcripts in sarcoid myopathy. J Hum Genet. 2026 Jan 13. [Online ahead of print]
Shimazaki R, Noguchi S, Hayashi S, Nishino I.
Imaging Features of Skeletal Muscle and Their Correlation With Clinical Findings in Emery-Dreifuss Muscular Dystrophy Caused by EMD Variants. Muscle Nerve. 2026 Mar;73(3):471-479. Epub 2026 Jan 7.
Shimazaki R, Noguchi S, Yoshioka W, Takizawa H, Takahashi Y, Hayashi S, Nishino I.
Muscle imaging of patients with RYR1-related myopathies and its significance to clinical features. Neuromuscul Disord. 2025 Nov;56-57:106275. Epub 2025 Nov 6.
Gerlach Melhedegaard E, Rostedt F, Gineste C, Seaborne RA, Dugdale HF, Belhac V, Zanoteli E, Lawlor MW, Mack DL, Wallgren-Pettersson C, Hessel AL, Jungbluth H, Laporte J, Saito Y, Nishino I, Ochala J, Laitila J.
Myosin inhibition partially rescues the myofibre proteome in X-linked myotubular myopathy. JCI Insight. 2025 Nov 4;10(24):e194868. eCollection 2025 Dec 22.
Ishida R, Eura N, Nishimori Y, Yamanaka A, Sugata M, Kiriyama T, Nishino I, Sugie K.
A case of asymptomatic hyperCKemia for 40 years leading to a diagnosis of treatable immune-mediated necrotizing myopathy. Neuromuscul Disord. 2025 Nov;56-57:106215. Epub 2025 Sep 15.
Tsujihata T, Miyake H, Iwai-Kanai E, Sumiyoshi S, Kubo T, Nishino I, Hatta K.
Microscopic Polyangiitis Initially Suspected of Being Anti-synthetase Syndrome. Intern Med. 2026 Feb 15;65(4):601-605. Epub 2025 Jul 24