Skip to Main Content

Paper Details

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Ann Neurol
93
2014
A726T, ADCY5, FDFM, T, adenylyl, adenylyl cyclase, adenylyl cyclase 5, autosomal dominant familial dyskinesia with facial myokymia, c.1252C, c.1252C>T, c.2176G, c.2176G>A, cAMP, child, cyclic adenosine monophosphate, facial myokymia, familial dyskinesia with, human, movement disorders, p.R418W, parent, paroxysmal choreiform and dystonic movements, patients, rare disorders
Adenylyl Cyclases, Adolescent, Cyclic AMP, Dystonic Disorders, Facial Nerve Diseases, Female, Green Fluorescent Proteins, HEK293 Cells, Humans, Models, Molecular, Mutagenesis, Site-Directed, Mutation, Missense, Transfection
Author NameAffiliation
Ying-Zhang ChenUniversity of Washington
  • 1 - 1

Datasets

Release 1.2