2024-03-01

原著

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. 56(3):395-407. Mar, 2024 doi: 10.1038/s41588-023-01651-0. PMID: 38429495
 

2024-03-01

原著

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. 10(2):e200137. Mar, 2024. eCollection 2024 Apr. doi: 10.1212/NXG.0000000000200137. PMID: 38544966
 

2024-02-01

総説・著書

Tanboon J, Nishino I: Autosomal Recessive Limb-Girdle Muscular Dystrophies. Principles and Practice of the Muscular Dystrophies, (Editors: Pushpa Narayanaswami, Teerin Liewluck), Humana Press, USA, pp 93–121. Feb, 2024 doi: 10.1007/978-3-031-44009-0_6
 

2024-02-01

総説・著書

Ogasawara M, Nishino I:  Oculopharyngodistal Myopathy. Principles and Practice of the Muscular Dystrophies, (Editors: Pushpa Narayanaswami, Teerin Liewluck), Humana Press, USA, pp 213–220. Feb, 2024 doi: 10.1007/978-3-031-44009-0_13
 

2024-02-01

原著

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. 51(2):301-306. Feb, 2024 doi: 10.1111/1346-8138.17000. PMID: 37830399
 

2024-01-01

総説・著書

Eura N, Ogasawara M, Nishino I: Recent topics of oculopharyngodistal myopathy. Neurol Clin Neurosci. 12(1): 10-15. Jan, 2024 doi:10.1111/ncn3.12680

 

2024-01-01

原著

Saito Y, Ishiyama A, Saito Y, Komaki H, Sasaki M: Myelin abnormalities in merosin-deficient congenital muscular dystrophy. Muscle Nerve. 69(1):55-63.Jan, 2024 doi: 10.1002/mus.28002. PMID: 37933889
 

2023-12-01

学会発表

Nishino I: Keynote lecture GNE- Myopathy. Herbsttagung des Referenzzentrums für Neuromuskuläre Erkrankungen（Autumn Conference of the Reference Center for Neuromuscular Diseases）(Online), Germany, 12.1, 2023.

2023-12-01

総説・著書

Oldroyd AGS, Callen JP, Chinoy H, Chung L, Fiorentino D, Gordon P, Machado PM, McHugh N, Selva-O’Callaghan A, Schmidt J, Tansley SL, Vleugels RA, Werth VP; International Myositis Assessment and Clinical Studies Group Cancer Screening Expert Group; Amato AA, Anderson H, Andrade-Ortega L, Ascherman DP, Benveniste O, Cavagna L, Charles-Shoeman C, Chong BF, Christopher-Stine L, Clarke JT, Crosbie EJ, Crosbie PAJ, Danoff S, Dastmalchi M, de Visser M, Dellaripa PF, Diederichsen LP, Dimachkie MM, Ensrud E, Ernste FC, Evans DGR, Fujimoto M, García-De La Torre I, García-Kutzbach A, Griger Z, Gupta L, Hudson M, Iannone F, Isenberg D, Jorizzo JL, Kurtz HE, Kuwana M, Limaye V, Lundberg IE, Mammen AL, Mann H, Mastaglia FL, McWilliams L, Mecoli CA, Meloni F, Miller FW, Moghadam-Kia S, Moiseev SK, Muro Y, Nagy-Vincze M, Naylor CN, Needham M, Nishino I, Oddis CV, Paik JJ, Raaphorst J, Rider LG, Rojas-Serrano J, Saketkoo LA, Schiffenbauer A, Shinjo SK, Shobha V, Song YW, Tillett T, Troyanov Y, van der Kooi AJ, Vázquez-Del Mercado M, Vencovský J, Wang Q, Ytterberg SR; Aggarwal R: International Guideline for Idiopathic Inflammatory Myopathy-Associated Cancer Screening: an International Myositis Assessment and Clinical Studies Group (IMACS) initiative. Nat Rev Rheumatol. 19(12):805-817. Dec, 2023 doi: 10.1038/s41584-023-01045-w. PMID: 37945774
 

2023-12-01

原著

Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schöser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis. J Neurol. 270(12):5849-5865. Dec, 2023 doi: 10.1007/s00415-023-11862-4. PMID: 37603075