Gain-of-Function ADCY5 Mutations in Familial Dyskinesia with Facial Myokymia

OBJECTIVE: To identify the cause of childhood onset involuntary paroxysmal choreiform and dystonic movements in 2 unrelated sporadic cases and to investigate the functional effect of missense mutations in adenylyl cyclase 5 (ADCY5) in sporadic and inherited cases of autosomal dominant familial dyski...

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Gepubliceerd in:Ann Neurol
Hoofdauteurs: Chen, Ying-Zhang, Friedman, Jennifer R., Chen, Dong-Hui, Chan, Guy C.-K., Bloss, Cinnamon S., Hisama, Fuki M., Topol, Sarah E., Carson, Andrew R., Pham, Phillip H., Bonkowski, Emily S., Scott, Erick R., Lee, Janel K., Zhang, Guangfa, Oliveira, Glenn, Xu, Jian, Zeeland, Ashley A. Scott-Van, Chen, Qi, Levy, Samuel, Topol, Eric J., Storm, Daniel, Swanson, Phillip D., Bird, Thomas D., Schork, Nicholas J., Raskind, Wendy H., Torkamani, Ali
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2014
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4457323/
https://ncbi.nlm.nih.gov/pubmed/24700542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24119
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