Oyama M, Holzer MT, Ohnuki Y, Saito Y, Nishimori Y, Suzuki S, Shiina T, Leonard-Louis S, Benveniste O, Schneider U, Stenzel W, Nishino I, Suzuki S, Uruha A.
Pathologic Features of Anti-Ku Myositis. Neurology. 2024 Apr 23;102(8):e209268. Epub 2024 Mar 28.
El Sherif R, Saito Y, Awaya T, Noguchi S, Nishino I.
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD. Neurol Genet. 2024 Mar 25;10(2):e200137. eCollection 2024 Apr.
Komaki S, Kubota A, Katsuse K, Kitamura A, Maeda M, Matsukawa T, Eura N, Saito Y, Nishino I, Toda T.
A Case of a Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a de novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3. Intern Med. 2024 Mar 18. [Online ahead of print]
Lilleker JB, Naddaf E, Saris CGJ, Schmidt J, de Visser M, Weihl CC; 272nd ENMC workshop participants; Alexandersson H, Alfano L, Allenbach Y, Badrising U, Benveniste O, Bhai S, De Bleecker J, Breeveld MC, Chinoy H, Diederichsen L, Dimachkie M, Greenberg C, Chinoy H, Diederichsen L, Dimachkie M, Greenberg S, Johari M, Lilleker J, Lindgren U, Lloyd T, Machado P, Mozaffar T, Mischke R, Naddaf E, Needham M, Nishino I, Oldfors A, Saris C, Schmidt J, Stenzel W, Tasca G, de Visser M, Weihl C.
272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16-18 June 2023, Hoofddorp, The Netherlands. Neuromuscul Disord. 2024 Mar 7;37:36-51. [Online ahead of print]
Hamaguchi T, Nishino I, Hirano Y, Uchida N, Fujita-Nakata M, Nakanishi M, Sakai T, Asahina M.
Sporadic Late-onset Nemaline Myopathy Associated with Sjögren's Syndrome: A Case Report. Intern Med. 2024 Mar 4. [Online ahead of print]
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet. Mar;56(3):395-407. Epub 2024 Mar 1.
Izumi R, Warita H, Niihori T, Furusawa Y, Nakano M, Oya Y, Kato K, Shiga T, Ikeda K, Suzuki N, Nishino I, Aoki Y, Aoki M.
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps. Cerebellum. 2024 Feb 7. [Online ahead of print]
Konishi R, Ichimura Y, Tanaka R, Miyahara H, Okune M, Miyamoto M, Hara M, Iwabuchi A, Takada H, Nakagishi Y, Mizuta M, Kaneko S, Shimizu M, Morio T, Nishino I, Nomura T, Okiyama N.
Possible correlation between serum interleukin-8 levels and the activity of myositis in anti-NXP2 antibody-positive dermatomyositis. Immunol Med. 2024 Jan 4:1-6. [Online ahead of print]
Saito Y, Ishiyama A, Saito Y, Komaki H, Sasaki M.
Myelin abnormalities in merosin-deficient congenital muscular dystrophy. Muscle Nerve. 2024 Jan;69(1):55-63. Epub 2023 Nov 7.
Fujisaki M, Kasamatsu H, Nishimura K, Yoshida Y, Muneishi Y, Yamaguchi T, Nishino I, Konishi R, Ichimura Y, Okiyama N, Oyama N, Hasegawa M.
A case of anti-SAE1/2 antibody-positive dermatomyositis with extensive panniculitis: A possible cutaneous manifestation of treatment resistance. J Dermatol. 2024 Feb;51(2):301-306. Epub 2023 Oct 13.
Eura N, Ogasawara M, Nishino I.
Recent topics of oculopharyngodistal myopathy. Neurol Clin Neurosci. 2024 Jan;12(1):10-15. (総説)