2023-12-01

原著

Eura N, Noguchi S, Ogasawara M, Kumutpongpanich T, Hayashi S, Nishino I; OPDM/OPMD Image Study Group: Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy. J Neurol. 270(12):5988-5998. Dec, 2023 doi: 10.1007/s00415-023-11906-9. PMID: 37634163
 

2023-12-01

原著

Yamashita S, Tawara N, Zhang Z, Nakane S, Sugie K, Suzuki N, Nishino I, Aoki M: Pathogenic role of anti-cN1A autoantibodies in sporadic inclusion body myositis. J Neurol Neurosurg Psychiatry. 94(12):1018-1024. Dec, 2023 doi: 10.1136/jnnp-2023-331474.PMID: 37451693
 

2023-11-18

学会発表

Nishino I: Inflammatory Myopathies-Pathological Perspectives. Neuromuscular Update for Practising Neurologists (Hotel Westin, Powai) Mumbai, India, 11.18, 2023 (11.17-11.19)

2023-11-01

原著

高橋義秋, 髙宮資宜, 市村裕輝, 沖山奈緒子, 西野一三, 森本展年：著明なびまん性皮下浮腫と嚥下障害を呈した抗nuclear matrix protein 2抗体陽性皮膚炎欠如型皮膚筋炎の2例. Rinsho Shinkeigaku. 63(11):737-742. Nov, 2023 doi: 10.5692/clinicalneurol.cn-001863. PMID: 37880118

 

2023-10-16

学会発表

Nishino I: Challenges in muscle disease in Asia –Recent discoveries and future direction. The XXVI World Congress of Neurology (WCN 2023), (Palais des congress de Montreal), Montreal, Canada, 10.16, 2023 (10.15-10.19)

2023-10-07

学会発表

Johari M, Folland C, Saito Y, Oud M, Töpf A, Kurbatov S, StudyGroup T, Pais L, Cairns A, Kang P, Straub V, Beggs A, Fahey M, Cossée M, Voermans N, Udd B, Laing N, Nishino I, Tartaglia M, Ravenscroft G: A novel class of Tubulinopathies - Mutations in TUBA4A cause primary skeletal muscle disorders. 28th International Congress of the World Muscle Society (Charleston Convention Center), Charleston, USA, 10.7, 2023 (10.3-10.7)

2023-10-07

学会発表

Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu S, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H: CGG repeat expansion in LRP12 causes both amyotrophic lateral sclerosis and oculopharyngodistal myopathy type 1. 28th International Congress of the World Muscle Society (Charleston Convention Center), Charleston, USA, 10.7, 2023 (10.3-10.7)

2023-10-01

原著

Schiava M, Ikenaga C, Topf A, Caballero-Ávila M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar-Quiles R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas-Morales R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini-Bettolo C, Diaz-Manera J, Weihl CC: Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy. Neurol Genet. 9(5):e200093, Aug, 2023. eCollection 2023 Oct. doi: 10.1212/NXG.0000000000200093. PMID: 37588275
 

2023-10-01

原著

Yamashita S, Nagatoshi A, Takeuchi Y, Nishino I, Ueda M: Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy. Neuropathol. 43(5):408-412. Oct, 2023 doi.: 10.1111/neup.12901 PMID: 36864825　
 

2023-10-01

原著

Maruo Y, Saito Y, Nishino I, Takeda A: Successful treatment of frequent premature ventricular contractions and non-sustained ventricular tachycardia with verapamil and flecainide in RYR1-related myopathy: a case report. Eur Heart J Case Rep. 7(10):ytad509. Oct, 2023. eCollection 2023 Oct. doi: 10.1093/ehjcr/ytad509. PMID: 37881357