| P50 | author | Luca Murru | Q56953004 |
| | Silvia Bassani | Q58924713 |
| | Edoardo Moretto | Q59677986 |
| P2093 | author name string | Maria Passafaro | |
| | Laura Gerosa | |
| | Jonathan Zapata | |
| P2860 | cites work | Correction of fragile X syndrome in mice. | Q22251255 |
| | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | Q22337290 |
| | Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation | Q24290357 |
| | CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome | Q24303656 |
| | IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis | Q24303911 |
| | Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism | Q24307957 |
| | PAK kinases are directly coupled to the PIX family of nucleotide exchange factors | Q24313368 |
| | A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα | Q24336512 |
| | IL-1 receptor accessory protein-like 1 associated with mental retardation and autism mediates synapse formation by trans-synaptic interaction with protein tyrosine phosphatase δ | Q24338476 |
| | Seizures and X-linked intellectual disability | Q24594966 |
| | A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice | Q24629938 |
| | FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism | Q24631425 |
| | Neurexin-neuroligin signaling in synapse development | Q24648824 |
| | CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail | Q24651382 |
| | Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes | Q24670122 |
| | An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus | Q26269889 |
| | Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function | Q26269895 |
| | Fragile X and X-linked intellectual disability: four decades of discovery | Q27027343 |
| | Rho GTPases in cell biology | Q27860969 |
| | A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability | Q28116039 |
| | A novel function for fragile X mental retardation protein in translational activation | Q28118268 |
| | Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses | Q28118799 |
| | PAK in Alzheimer disease, Huntington disease and X-linked mental retardation | Q28279479 |
| | Tetraspanin functions and associated microdomains | Q28284176 |
| | The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus | Q28296072 |
| | MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number | Q28507266 |
| | CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling | Q28574630 |
| | Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses | Q28576481 |
| | IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation | Q28577846 |
| | The FXG: a presynaptic fragile X granule expressed in a subset of developing brain circuits | Q28588310 |
| | Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription | Q29547568 |
| | Reversal of neurological defects in a mouse model of Rett syndrome | Q29616452 |
| | Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome | Q30496828 |
| | FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels | Q30536899 |
| | Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. | Q31126823 |
| | The Cool-2/alpha-Pix protein mediates a Cdc42-Rac signaling cascade | Q31141260 |
| | Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. | Q32063419 |
| | IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features | Q33708273 |
| | Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. | Q34098728 |
| | The L1CAM extracellular region: a multi-domain protein with modular and cooperative binding modes | Q34228195 |
| | Neuroligin-4 is localized to glycinergic postsynapses and regulates inhibition in the retina | Q34583030 |
| | X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment | Q34591768 |
| | Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome. | Q34698021 |
| | Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation | Q35377977 |
| | Targeted treatments for fragile X syndrome | Q35680726 |
| | Absence of metabotropic glutamate receptor-mediated plasticity in the neocortex of fragile X mice. | Q35844502 |
| | The genetics of Pak. | Q35872596 |
| | MeCP2 is critical for maintaining mature neuronal networks and global brain anatomy during late stages of postnatal brain development and in the mature adult brain | Q36288388 |
| | Characterization of oligophrenin-1, a RhoGAP lost in patients affected with mental retardation: lentiviral injection in organotypic brain slice cultures | Q36567265 |
| | The microRNA pathway and fragile X mental retardation protein | Q37238015 |
| | Genetics of intellectual disability | Q37241372 |
| | Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. | Q37373910 |
| | X-linked mental retardation: focus on synaptic function and plasticity. | Q37381788 |
| | Tetraspanins: Interactions and interplay with integrins. | Q37983354 |
| | Synaptic cell adhesion molecules | Q37986651 |
| | Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature | Q38002690 |
| | Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders | Q38075436 |
| | The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2. | Q39283013 |
| | A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation. | Q39753533 |
| | Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial | Q40275085 |
| | Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments. | Q40452043 |
| | Valproate induces replication-independent active DNA demethylation | Q40647716 |
| | The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule | Q41127100 |
| | Immunoelectron microscopic localization of the neural cell adhesion molecules L1 and N-CAM during postnatal development of the mouse cerebellum | Q41540862 |
| | The X-linked intellectual disability protein TSPAN7 regulates excitatory synapse development and AMPAR trafficking | Q41895977 |
| | Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice | Q41955219 |
| | Sequential implication of the mental retardation proteins ARHGEF6 and PAK3 in spine morphogenesis | Q42833666 |
| | Early developmental alterations in GABAergic protein expression in fragile X knockout mice | Q43063055 |
| | Origins of epilepsy in fragile X syndrome | Q43067748 |
| | Activity-dependent regulation of genes implicated in X-linked non-specific mental retardation | Q44122969 |
| | The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis | Q47913103 |
| | The p21-activated kinase 3 implicated in mental retardation regulates spine morphogenesis through a Cdc42-dependent pathway | Q48151820 |
| | Fragile X mental retardation protein induces synapse loss through acute postsynaptic translational regulation. | Q48232839 |
| | Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity | Q48386718 |
| | RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice | Q48392342 |
| | Dendritic Spine "Dysgenesis" and Mental Retardation | Q48497882 |
| | The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression | Q48667829 |
| | Alteration of synaptic network dynamics by the intellectual disability protein PAK3. | Q48716662 |
| | Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3. | Q48805262 |
| | Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits | Q48850008 |
| | CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. | Q50305506 |
| | Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. | Q51820369 |
| | Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males | Q54413738 |
| P433 | issue | 5 | |
| P921 | main subject | disability | Q12131 |
| | X-linked intellectual disability | Q8041560 |
| P304 | page(s) | 541-552 | |
| P577 | publication date | 2013-07-02 | |
| P1433 | published in | The Neuroscientist | Q7753449 |
| P1476 | title | The neurobiology of X-linked intellectual disability | |
| P478 | volume | 19 | |