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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: oya y. 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.
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I. Nishino I, et al. Among authors: oya y. Neurology. 2002 Dec 10;59(11):1689-93. doi: 10.1212/01.wnl.0000041631.28557.c6. Neurology. 2002. PMID: 12473753
FSHD-like patients without 4q35 deletion.
Yamanaka G, Goto K, Ishihara T, Oya Y, Miyajima T, Hoshika A, Nishino I, Hayashi YK. Yamanaka G, et al. Among authors: oya y. J Neurol Sci. 2004 Apr 15;219(1-2):89-93. doi: 10.1016/j.jns.2003.12.010. J Neurol Sci. 2004. PMID: 15050443
GNE myopathy: a prospective natural history study of disease progression.
Mori-Yoshimura M, Oya Y, Yajima H, Yonemoto N, Kobayashi Y, Hayashi YK, Noguchi S, Nishino I, Murata M. Mori-Yoshimura M, et al. Among authors: oya y. Neuromuscul Disord. 2014 May;24(5):380-6. doi: 10.1016/j.nmd.2014.02.008. Epub 2014 Feb 28. Neuromuscul Disord. 2014. PMID: 24656604
280 results