Using iPS cell-derived neurons to uncover cellular phenotypes associated with Timothy Syndrome

Monogenic neurodevelopmental disorders provide key insights into the pathogenesis of disease and help us understand how specific genes control the development of the human brain. Timothy syndrome is caused by a missense mutation in the L-type calcium channel Ca(v)1.2 that is associated with developm...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Paşca, Sergiu P., Portmann, Thomas, Voineagu, Irina, Yazawa, Masayuki, Shcheglovitov, Oleksandr, Paşca, Anca M., Cord, Branden, Palmer, Theo D., Chikahisa, Sachiko, Seiji, Nishino, Bernstein, Jonathan A., Hallmayer, Joachim, Geschwind, Daniel H., Dolmetsch, Ricardo E.
Format: Artigo
Sprog:Inglês
Udgivet: 2011
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3517299/
https://ncbi.nlm.nih.gov/pubmed/22120178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nm.2576
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker