Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

Mutations in the postsynaptic scaffolding gene SHANK2 have recently been identified in individuals with autism spectrum disorder (ASD) and intellectual disability. However, the cellular and physiological consequences of these mutations in neurons remain unknown. We have analyzed the functional impac...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Berkel, Simone, Tang, Wannan, Treviño, Mario, Vogt, Miriam, Obenhaus, Horst Andreas, Gass, Peter, Scherer, Stephen Wayne, Sprengel, Rolf, Schratt, Gerhard, Rappold, Gudrun Anna
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2012
Gaiak:
Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3276277/
https://ncbi.nlm.nih.gov/pubmed/21994763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr470
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