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. 2024 Mar 1. [Online ahead of print]
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)