Pages that link to "Q24648672"
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The following pages link to Contribution of SHANK3 mutations to autism spectrum disorder (Q24648672):
Displaying 50 items.
- Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice (Q21198691) (← links)
- Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication (Q21198697) (← links)
- Recent advances in the pathogenesis of syndromic autisms (Q21342782) (← links)
- Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist (Q22242030) (← links)
- Advances in autism genetics: on the threshold of a new neurobiology (Q22251023) (← links)
- Neuroligins and neurexins link synaptic function to cognitive disease (Q22251092) (← links)
- The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders (Q22251439) (← links)
- Dances with black widow spiders: Dysregulation of glutamate signalling enters centre stage in ADHD (Q22252215) (← links)
- Autism and brain development (Q22252316) (← links)
- The role of immune dysfunction in the pathophysiology of autism (Q22252518) (← links)
- Unraveling autism (Q22252554) (← links)
- Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments (Q23936599) (← links)
- Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia (Q24297920) (← links)
- Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability (Q24299949) (← links)
- Rare deletions at the neurexin 3 locus in autism spectrum disorder (Q24300898) (← links)
- Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation (Q24312962) (← links)
- SHANK1 Deletions in Males with Autism Spectrum Disorder (Q24313471) (← links)
- Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses (Q24317227) (← links)
- Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3 (Q24596677) (← links)
- Shank3 mutant mice display autistic-like behaviours and striatal dysfunction (Q24597501) (← links)
- Autism risk factors: genes, environment, and gene-environment interactions (Q24603693) (← links)
- The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome) (Q24612792) (← links)
- Direct measure of the de novo mutation rate in autism and schizophrenia cohorts (Q24618002) (← links)
- Emerging Pharmacotherapies for Neurodevelopmental Disorders (Q24619170) (← links)
- Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism (Q24620573) (← links)
- De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia (Q24621518) (← links)
- Genetics of autistic disorders: review and clinical implications (Q24627520) (← links)
- Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation (Q24629022) (← links)
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genes (Q24629598) (← links)
- Multiple rare variants in the etiology of autism spectrum disorders (Q24635522) (← links)
- A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB (Q24644827) (← links)
- Current developments in the genetics of autism: from phenome to genome (Q24646514) (← links)
- Structural variation of chromosomes in autism spectrum disorder (Q24656970) (← links)
- Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function (Q26269895) (← links)
- Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications (Q26771770) (← links)
- Behavioral phenotypes of genetic mouse models of autism (Q26781456) (← links)
- Using Sibling Designs to Understand Neurodevelopmental Disorders: From Genes and Environments to Prevention Programming (Q26799923) (← links)
- Consensus paper: pathological role of the cerebellum in autism (Q26830626) (← links)
- Cellular and synaptic network defects in autism (Q26864843) (← links)
- The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment (Q26998975) (← links)
- CNVs: harbingers of a rare variant revolution in psychiatric genetics (Q27022289) (← links)
- Therapeutic approaches for shankopathies (Q27024976) (← links)
- Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism. (Q27318286) (← links)
- Genetic aspects of autism spectrum disorders: insights from animal models (Q27687011) (← links)
- A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. (Q28079929) (← links)
- Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disorders (Q28086869) (← links)
- Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms (Q28087577) (← links)
- Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring (Q28259043) (← links)
- Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations (Q28266635) (← links)
- Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2 (Q28268807) (← links)