| scholarly article | Q13442814 |
| P50 | author | Guy A. Rouleau | Q3121500 |
| Richard L. Huganir | Q7327191 | ||
| Amélie Piton | Q37385220 | ||
| Sylvia Dobrzeniecka | Q40283995 | ||
| Jean-Claude Lacaille | Q58670633 | ||
| Dan Spiegelman | Q75511254 | ||
| Julie Gauthier | Q75511328 | ||
| Yoichi Araki | Q89790609 | ||
| Grant A Mitchell | Q90969833 | ||
| Hussein Daoud | Q91113791 | ||
| Ousmane Diallo | Q93211956 | ||
| Jacques L. Michaud | Q102286139 | ||
| Michel Vanasse | Q106569830 | ||
| Pierre Drapeau | Q113488674 | ||
| Myriam Srour | Q114410145 | ||
| Christine Massicotte | Q114410148 | ||
| Ronald G. Lafrenière | Q114410151 | ||
| Claude Marineau | Q114410157 | ||
| Bruno Maranda | Q114410167 | ||
| Amélie Nadeau | Q114410168 | ||
| Masoud Shekarabi | Q117231402 | ||
| P2093 | author name string | Edouard Henrion | |
| Guy D'Anjou | |||
| Eunjoon Kim | |||
| Jae-Ran Lee | |||
| Da-Ting Lin | |||
| Kazuei Igarashi | |||
| A.-Reum Park | |||
| Michael Shevell | |||
| Hideyuki Tomitori | |||
| Kyohei Higashi | |||
| Fadi F. Hamdan | |||
| S2D Group | |||
| Yuhki Yoshizawa | |||
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| Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons. | Q46425942 | ||
| Stargazin modulates AMPA receptor gating and trafficking by distinct domains | Q46461380 | ||
| The pore region of N-methyl-D-aspartate receptors differentially influences stimulation and block by spermine | Q46479935 | ||
| De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy | Q50307422 | ||
| Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism | Q50346422 | ||
| A de novo paradigm for mental retardation. | Q51828800 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | disability affecting intellectual abilities | Q3317827 |
| intellectual disability | Q183560 | ||
| non-syndromic intellectual disability | Q18553537 | ||
| P304 | page(s) | 306–316 | |
| P577 | publication date | 2011-03-11 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability | |
| P478 | volume | 88 |
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| Q47564111 | A kainate receptor GluK4 deletion, protective against bipolar disorder, is associated with enhanced cognitive performance across diagnoses in the TwinsUK cohort |
| Q38013966 | A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease |
| Q91841215 | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| Q93012683 | AMPA receptor deletion in developing MGE-derived hippocampal interneurons causes a redistribution of excitatory synapses and attenuates postnatal network oscillatory activity |
| Q89467449 | AMPA receptor structure and auxiliary subunits |
| Q35095534 | Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes |
| Q30362074 | Altered Striatal Synaptic Function and Abnormal Behaviour in Shank3 Exon4-9 Deletion Mouse Model of Autism |
| Q100654671 | Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant |
| Q28268807 | Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2 |
| Q41918173 | Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene. |
| Q33650497 | Axonal Membranes and Their Domains: Assembly and Function of the Axon Initial Segment and Node of Ranvier |
| Q26827748 | Axonal transport: cargo-specific mechanisms of motility and regulation |
| Q38024032 | Calcium-dependent networks in dopamine-glutamate interaction: the role of postsynaptic scaffolding proteins. |
| Q35816456 | Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder. |
| Q53770638 | Chimerism for 20q11.2 microdeletion of GDF5 explains discordant phenotypes in monochorionic-diamniotic twins. |
| Q26824216 | Clinical and experimental studies of potentially pathogenic brain-directed autoantibodies: current knowledge and future directions |
| Q39778164 | Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders |
| Q47393261 | Common functional variants of the glutamatergic system in Autism spectrum disorder with high and low intellectual abilities |
| Q98513649 | Consequences of NMDA receptor deficiency can be rescued in the adult brain |
| Q92024803 | Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities |
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| Q59545957 | De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy |
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| Q38612568 | De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome |
| Q47842300 | De novo mutations in GRIN1 cause extensive bilateral polymicrogyria |
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| Q89081838 | Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies |
| Q35129654 | Exome sequencing and the genetics of intellectual disability. |
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| Q27020947 | From Learning to Memory: What Flies Can Tell Us about Intellectual Disability Treatment |
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| Q34235432 | High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability |
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| Q28259043 | Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring |
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| Q91637313 | Shank3 Mice Carrying the Human Q321R Mutation Display Enhanced Self-Grooming, Abnormal Electroencephalogram Patterns, and Suppressed Neuronal Excitability and Seizure Susceptibility |
| Q30629661 | Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit |
| Q33620872 | Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes |
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| Q91176745 | Targeted resequencing identifies genes with recurrent variation in cerebral palsy |
| Q24602558 | Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. |
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| Q42314260 | The KIF1A homolog Unc-104 is important for spontaneous release, postsynaptic density maturation and perisynaptic scaffold organization. |
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