Art

J-GLOBAL ID：201602210166966126   Reference number：16A0780358

Recent advances in congenital myasthenic syndromes

先天性筋無力症候群における最近の進歩

Author (3)： Ohno Kinji (Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Ohkawara Bisei (Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Ito Mikako (Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan)
Material： Clinical and Experimental Neuroimmunology (Web)  (Clin Exp Neuroimmunol (Web))
Volume： 7  Issue： 3  Page： 246-259  Publication year： 2016 
JST Material Number： U0510A  ISSN： 1759-1961  Document type： Article
Article type： 文献レビュー  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *congenital disease ,...
Semi thesaurus term： *Myasthenic Syndromes, Congenital ,...

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Author keywords (3)： acetylcholine receptor ,  congenital myasthenic syndrome ,  neuromuscular junction

JST classification (1)： Nervous system diseases  (GN03000O)

Reference (116)：

• Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A, Vincent A. Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nat Med. 2001; 7: 365-8.
• Higuchi O, Hamuro J, Motomura M, Yamanashi Y. Autoantibodies to low-density lipoprotein receptorrelated protein 4 in myasthenia gravis. Ann Neurol. 2011; 69: 418-22.
• Gasperi C, Melms A, Schoser B, et al. Anti-agrin autoantibodies in myasthenia gravis. Neurology. 2014; 82: 1976-83.
• Zhang B, Shen C, Bealmear B, et al. Autoantibodies to agrin in myasthenia gravis patients. PLoS One. 2014; 9: e91816.
• Ohno K, Hutchinson DO, Milone M, et al. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc Natl Acad Sci USA. 1995; 92: 758-62.

Terms in the title (1)： 先天性筋無力症候群