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749 results

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Page 1
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.
Mori-Yoshimura M, Suzuki N, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M. Mori-Yoshimura M, et al. Among authors: nishino i. Orphanet J Rare Dis. 2023 Aug 11;18(1):241. doi: 10.1186/s13023-023-02850-y. Orphanet J Rare Dis. 2023. PMID: 37568154 Free PMC article. Clinical Trial.
Clinical characteristics of dysphagic inclusion body myositis.
Taira K, Mori-Yoshimura M, Yamamoto T, Oya Y, Nishino I, Takahashi Y. Taira K, et al. Among authors: nishino i. Neuromuscul Disord. 2023 Feb;33(2):133-138. doi: 10.1016/j.nmd.2022.11.008. Epub 2022 Nov 29. Neuromuscul Disord. 2023. PMID: 36575104 Free article.
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.
Suzuki N, Mori-Yoshimura M, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M. Suzuki N, et al. Among authors: nishino i. J Neuromuscul Dis. 2023;10(4):555-566. doi: 10.3233/JND-230029. J Neuromuscul Dis. 2023. PMID: 37125562 Free PMC article. Clinical Trial.
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, 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. Kume K, et al. Among authors: nishino i. Am J Hum Genet. 2023 Jul 6;110(7):1086-1097. doi: 10.1016/j.ajhg.2023.05.014. Epub 2023 Jun 19. Am J Hum Genet. 2023. PMID: 37339631 Free PMC article.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
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, Schoser 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. Esteller D, et al. Among authors: nishino i. J Neurol. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 Free PMC article.
Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.
Yamada K, Yaguchi H, Abe M, Ishikawa K, Tanaka D, Oshima Y, Kudo A, Uwatoko H, Shirai S, Takahashi-Iwata I, Matsushima M, Nishino I, Yabe I. Yamada K, et al. Among authors: nishino i. Clin Neurol Neurosurg. 2023 May;228:107670. doi: 10.1016/j.clineuro.2023.107670. Epub 2023 Mar 13. Clin Neurol Neurosurg. 2023. PMID: 36996668 Free article. No abstract available.
Immune-mediated Necrotizing Myopathy in a Patient with Microscopic Polyangiitis.
Umemoto D, Kanzawa Y, Nakamura T, Nishino I, Mizuki S, Ohnishi J, Nakajima T, Ishimaru N, Kinami S. Umemoto D, et al. Among authors: nishino i. Intern Med. 2024 May 15;63(10):1485-1490. doi: 10.2169/internalmedicine.2583-23. Epub 2023 Oct 6. Intern Med. 2024. PMID: 37813608 Free article.
749 results