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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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Hlavní autoři: Berkel, Simone, Tang, Wannan, Treviño, Mario, Vogt, Miriam, Obenhaus, Horst Andreas, Gass, Peter, Scherer, Stephen Wayne, Sprengel, Rolf, Schratt, Gerhard, Rappold, Gudrun Anna
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2012
Témata:
On-line přístup: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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