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The Journal of Biological Chemistry|January 2, 2004
C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapseLewis M Kimbell, Kinji Ohno, Andrew G Engel, et al.Chemico-Biological Interactions|September 18, 2012
Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravisKinji Ohno, Mikako Ito, Yu Kawakami, et al.International Journal of Molecular Sciences|February 25, 2023
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive ReviewKinji Ohno, Bisei Ohkawara, Xin-Ming Shen, et al.Human Molecular Genetics|March 26, 2003
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndromeKinji Ohno, Menachem Sadeh, Ilan Blatt, et al.The Journal of Clinical Investigation|April 10, 2008
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gatingXin-Ming Shen, Taku Fukuda, Kinji Ohno, et al.Human Molecular Genetics|September 23, 2008
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndromeAkio Masuda, Xin-Ming Shen, Mikako Ito, et al.JAMA Neurology|June 9, 2015
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related MyastheniaDuygu Selcen, Bisei Ohkawara, Xin-Ming Shen, et al.Human Molecular Genetics|January 17, 2009
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndromeYang Bian, Akio Masuda, Tohru Matsuura, et al.Annals of Clinical and Translational Neurology|March 9, 2023
Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myastheniaXin-Ming Shen, Tomohiko Nakata, Seiji Mizuno, et al.The EMBO Journal|May 8, 2004
Choline acetyltransferase structure reveals distribution of mutations that cause motor disordersYiying Cai, Ciarán N Cronin, Andrew G Engel, et al.Pageof 31