Concepedia

Identification of pathogenic mutations in the human rapsyn gene

Vanessa Dunne, Ricardo A. Maselli

Journal of Human Genetics · 2003 · 43 citations · 9 references

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References

9

Helix geometry in proteins

David J. Barlow, Janet M. Thornton · Journal of Molecular Biology · 1988 · 1.1K citations

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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

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

Kinji Ohno, Andrew G. Engel, Xin‐Ming Shen et al. · The American Journal of Human Genetics · 2002 · 238 citations · Full text

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The postsynaptic 43k protein clusters muscle nicotinic acetylcholine receptors in xenopus oocytes

Stanley C. Froehner, Charles W. Luetje, Paula Scotland et al. · Neuron · 1990 · 237 citations

, , +16

Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn

Manjunath Ramarao, Jonathan B. Cohen · Proceedings of the National Academy of Sciences · 1998 · 156 citations · Full text

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