Joan M. Brengman

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

Kinji Ohno, Akira Tsujino, Joan M. Brengman et al. · Proceedings of the National Academy of Sciences · 2001 · 265 citations · Full text

Life Sciences, Genetics, Neuroscience +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

Life Sciences, Genetics, Molecular Genetics +17

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

Kinji Ohno, Joan M. Brengman, Akira Tsujino et al. · Proceedings of the National Academy of Sciences · 1998 · 254 citations

Life Sciences, Genetics, Molecular Genetics +13

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

Life Sciences, Genetics, Neuroscience +16

Congenital Myasthenic Syndrome Caused by Decreased Agonist Binding Affinity Due to a Mutation in the Acetylcholine Receptor ε Subunit

Kinji Ohno, Hai-Long Wang, Margherita Milone et al. · Neuron · 1996 · 228 citations · Full text

Life Sciences, Genetics, Pharmacology +15