Uy GGGC, Noguchi S, Hayashi S, Takahashi Y, Nishino I.
Muscle Imaging Patterns and Variant-Specific Progression in DNM2-Related Centronuclear Myopathy. Muscle Nerve. 2026 Sep 25. [Online ahead of print]
Yamada K, Ogata S, Yaguchi H, Fujii S, Nomura T, Kudo A, Eguchi K, Uwatoko H, Shirai S, Takahashi-Iwata I, Matsushima M, Hamanaka K, Miyatake S, Nishino I, Goto YI, Matsumoto N, Yabe I.
Mitochondrial Dysfunction in Digenic TBP/STUB1 Spinocerebellar Ataxia. Mov Disord Clin Pract. 2026 Sep 21. [Online ahead of print]
Sattler KM, Paleo BJ, Roth MN, Bradley KE, Winkler MN, Yoshioka W, Nishino I, Lepper C, Crowe KE.
Assessment of Lectin Staining Biomarkers for GNE Myopathy Gene Therapy. Muscle Nerve. 2026 Sep 21. [Online ahead of print]
Ueda NK, Mimaki M, Wang Z, Mizuno Y, Namai Y, Nishino I, Goto YI.
Twelve Japanese patients with POLG-related disorders: Population-specific genetic differences of POLG variants in Japan and Europe. Brain Dev. 2026 Sep 11;48(6):104590. [Online ahead of print]
Lauletta A, Torchia E, Schwarz JM, Garibaldi M, Kleefeld F, Laforet P, Liewluck T; 294th ENMC workshop participants.
294th ENMC international workshop: Diagnosis and management of paraproteinemic myopathies focusing on sporadic late-onset nemaline myopathy (SLONM) and light-chain (AL) amyloid myopathy. 27th -29th March 2026, Hoofddorp, The Netherlands. Neuromuscul Disord. 2026 Aug 12;67:107394. [Online ahead of print]
Iida A, Funaguma S, Nishino I.
THE1 repeats: Ancient endogenous retroviruses rampaging behind sarcoid myopathy. J Hum Genet. 2026 Sep 3. [Online ahead of print] (Review)
Tsujimoto S, Hayashi K, Sato M, Hamada T, Suzuki A, Nakaya Y, Miura T, Nishino I, Yoshioka W, Kobayashi Y.
Inclusion-Body Myopathy with Paget Disease of the Bone and Frontotemporal Dementia (IBMPFD) with SCN4A Mutation: Modifying Factor or Not? Diagnostics (Basel). 2026 Sep 3;16(17):2833.
Todorow V, Lornage X, Hayashi S, Grandi FC, Clerc Z, Lainé J, Ney M, Lemaitre M, Rouxel C, Kondili M, Smeriglio P, Oh H, Kato M, Eura N, Saito Y, De Los Reyes FVA, Noguchi S, Schoser B, Furling D, Nishino I, Meinke P, Rau F.
MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1. Nat Commun. 2026 Aug 6;17(1):9476.
Komatsu H, Komaki S, Maeda M, Kubota A, Yuasa M, Kurokawa M, Morishima R, Uruha S, Uruha A, Nishino I, Hamada M, Toda T, Satake W.
Successful Bortezomib-Lenalidomide-Dexamethasone Therapy in a 72-Year-Old Patient With Sporadic Late-Onset Nemaline Myopathy Associated With Monoclonal Gammopathy of Muscle Significance. Muscle Nerve. 2026 Sep;74(3):756-758. Epub 2026 Jul 10.
Hata T, Ogawa N, Yabata H, Kobashi S, Nakayama M, Ishigaki H, Yamakawa I, Itoh Y, Nishino I, Urushitani M.
Case of concurrent ALS and human T-cell leukaemia virus type 1-associated myositis. BMJ Case Rep. 2026 Jul 7;19(7):e270944.
Saito T, Shigemura T, Yamanaka A, Yabe M, Nishino I, Nakazawa Y.
Relevance of anti-Ku antibodies in Ku-positive myositis with a necrotizing myopathy-like phenotype: a pediatric case report. Neuromuscul Dis. 2026 Jul;64:106461. Epub 2026 May 22
De Los Reyes FVA, Hayashi S, Noguchi S, Nishino I.
Whole-Body Muscle Computed Tomography Study of Desminopathy-A Case Series. Muscle Nerve. 2026 Jul;74(1):173-186. Epub 2026 May 9.
Tsuchiya T, Takahashi Y, Kato K, Hamaguchi M, Matsuda H, Nishino I, Kokubun N, Suzuki K.
Intranuclear Filamentous Inclusions in Oculopharyngeal Muscular Dystrophy. Neurol Clin Neurosci. 2026 Sep;14(5): 435-436. Epub 2026 May 30.
Yagita K, Takizawa H, Sano T, Nakayama Y, Ogasawara M, Nishino I, Ohya Y, Takahashi Y, Takao M.
Neuronal and glial intranuclear inclusions in a patient with oculopharyngodistal myopathy associated with noncoding GGC repeat expansions in GIPC1. Clin Neuropathol. 2026 May-Jun;45(3):107-114.
Kurebayashi N, Kodama M, Inoue H, Konishi M, Sugihara M, Murayama T, Ishida R, Ishii K, Mori S, Endo Y, Zeng X, Inoue YU, Inoue T, Noguchi S, Nishio H, Nakashima E, Suzuki N, Nakaya N, Sato R, Otori Y, Tsutsumi A, Takahashi M, Oka T, Ogawa H, Kanamitsu K, Kusuhara H, Yokoyama U, Kurokawa J, Kagechika H, Sakurai T.
A novel selective stabilizer of the ryanodine receptor 2 prevents stress-induced ventricular arrhythmias without impairing cardiac function. Br J Pharmacol. 2026 Aug;183(15):4321-4343. Epub 2026 Apr 27.
Shimazaki R, Noguchi S, Yoshioka W, Takizawa H, Oya Y, Takahashi Y, Sato N, Kimura Y, Hayashi S, Nishino I.
Spatiotemporal Patterns of Fat Replacement in SELENON-Related Myopathy: A Whole-Body Imaging Study. Muscle Nerve. 2026 Jul;74(1):38-46. Epub 2026 Apr 13.
Eura N, Noguchi S, Ogawa M, Sonehara K, Yamanaka A, Kurashige T, Hayashi S, Okada Y, Sugie K, Nishino I.
Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status. Genome Med. 2026 Mar 27;18(1):33.
Kido K, Miyoshi H, Ikeda T, Xia G, Sumii A, Otsuki S, Mukaida K, Sotomaru Y, Noguchi S, Tsutsumi YM.
Evaluation of clinically relevant sevoflurane concentrations in the development of malignant hyperthermia in an Ryr1 mutant mouse model. BMC Anesthesiol. 2026 Mar 24;26(1):277.
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 Mar 5;149(3):1007-1022.
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 Mar;58(3):517-529. Epub 2026 Feb 17.
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 Jun 30;36(4):604-609.
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 Jun;71(6):391-395. Epub 2026 Jan 13.
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.
Nagao N, Asanuma YF, Inayoshi F, Okamoto K, Okumura N, Iwasaki Y, Mimura T, Nishino I, Akiyama Y.
Anti-signal recognition particle antibody-positive immune-mediated necrotizing myopathy with inclusion body myositis-like features in a patient with human immunodeficiency virus and syphilis infection. Mod Rheumatol Case Rep. 2026 Jan 6;10(1):rxag025.
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.
Shimazaki R, Noguchi S, Takizawa H, Oya Y, Takahashi Y, Komaki H, Arahata H, Hayashi S, Nishino I.
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related Myopathies. Ann Clin Transl Neurol. 2026 Apr;13(4):724-735. Epub 2025 Nov 18.
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