Concepedia

Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

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

The American Journal of Human Genetics · 2002 · 238 citations · 52 references

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52

Defective Neuromuscular Synaptogenesis in Agrin-Deficient Mutant Mice

Medha Gautam, Peter G. Noakes, Lisa M. Moscoso et al. · Cell · 1996 · 925 citations · Full text

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Agrin Acts via a MuSK Receptor Complex

David J. Glass, David C. Bowen, Trevor N. Stitt et al. · Cell · 1996 · 658 citations · Full text

, , +17

Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice

Medha Gautam, Peter G. Noakes, Jacqueline L. Mudd et al. · Nature · 1995 · 541 citations

, , +16

Maintenance of Acetylcholine Receptor Number by Neuregulins at the Neuromuscular Junction in Vivo

Alfred Sandrock, Stuart E. Dryer, Kenneth M. Rosen et al. · Science · 1997 · 272 citations

, , +17

Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

Steven M. Sine, Kinji Ohno, Cecilia Bouzat et al. · Neuron · 1995 · 267 citations · Full text

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