Cecilia Bouzat

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 · 266 citations · Full text

Channelopathies, Slow-channel Myasthenic Syndrome, Molecular Physiology +6

Coupling of agonist binding to channel gating in an ACh-binding protein linked to an ion channel

Cecilia Bouzat, Fernanda Gumilar, Guillermo Spitzmaul et al. · Nature · 2004 · 264 citations · Full text

Protein Function, Molecular Physiology, Signal Transduction +15

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

Kinji Ohno, David Hutchinson, Margherita Milone et al. · Proceedings of the National Academy of Sciences · 1995 · 259 citations · Full text

Structural basis of the different gating kinetics of fetal and adult acetylcholine receptors

Cecilia Bouzat, Nina Bren, Steven M. Sine · Neuron · 1994 · 148 citations

Molecular Physiology, Neurophysiology, Medicine +11

End‐plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit

Andrew G. Engel, Kinji Ohno, Cecilia Bouzat et al. · Annals of Neurology · 1996 · 147 citations · Full text