Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

Kinji Ohno, Andrew G. Engel, Xin Ming Shen, Duygu Selcen, Joan Brengman, C. Michel Harper, Akira Tsujino, Margherita Milone

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191 Scopus citations

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Neuroscience

Biochemistry, Genetics and Molecular Biology