CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
Top Cited Papers
- 1 November 2009
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 85 (5) , 655-666
- https://doi.org/10.1016/j.ajhg.2009.10.004
Abstract
No abstract availableKeywords
This publication has 52 references indexed in Scilit:
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genesNature, 2009
- A Functional Genetic Link between Distinct Developmental Language DisordersNew England Journal of Medicine, 2008
- Neuroligins and neurexins link synaptic function to cognitive diseaseNature, 2008
- Structural Variation of Chromosomes in Autism Spectrum DisorderAmerican Journal of Human Genetics, 2008
- Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility GenePublished by Elsevier ,2008
- Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum DisordersAmerican Journal of Human Genetics, 2008
- A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of AutismAmerican Journal of Human Genetics, 2008
- Disruption of Neurexin 1 Associated with Autism Spectrum DisorderAmerican Journal of Human Genetics, 2008
- Crucial Role of Drosophila Neurexin in Proper Active Zone Apposition to Postsynaptic Densities, Synaptic Growth, and Synaptic TransmissionNeuron, 2007
- Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersNature Genetics, 2006