Published in Neural Plast on June 17, 2012
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Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. Proc Natl Acad Sci U S A (2012) 1.02
CDKL5 regulates flagellar length and localizes to the base of the flagella in Chlamydomonas. Mol Biol Cell (2013) 0.95
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Med Genet (2014) 0.85
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet (2014) 0.83
There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord (2015) 0.82
Characterisation of CDKL5 Transcript Isoforms in Human and Mouse. PLoS One (2016) 0.79
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PLoS One (2015) 0.79
Synaptic synthesis, dephosphorylation, and degradation: a novel paradigm for an activity-dependent neuronal control of CDKL5. J Biol Chem (2015) 0.78
CAGE-defined promoter regions of the genes implicated in Rett Syndrome. BMC Genomics (2014) 0.78
CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization. PLoS One (2016) 0.77
Lack of Cdkl5 Disrupts the Organization of Excitatory and Inhibitory Synapses and Parvalbumin Interneurons in the Primary Visual Cortex. Front Cell Neurosci (2016) 0.77
A high-throughput small molecule screen identifies synergism between DNA methylation and Aurora kinase pathways for X reactivation. Proc Natl Acad Sci U S A (2016) 0.76
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. Hum Genome Var (2015) 0.76
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Extrasynaptic NMDARs oppose synaptic NMDARs by triggering CREB shut-off and cell death pathways. Nat Neurosci (2002) 7.57
Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation. Neuron (2006) 6.50
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The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell (2010) 4.72
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Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function. Neuron (2011) 2.71
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CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology (2008) 2.37
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Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function. Proc Natl Acad Sci U S A (2009) 2.30
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet (2003) 2.03
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet (2004) 1.88
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat (2007) 1.79
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet (2004) 1.78
Control of synapse development and plasticity by Rho GTPase regulatory proteins. Prog Neurobiol (2011) 1.77
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet (2005) 1.72
Key clinical features to identify girls with CDKL5 mutations. Brain (2008) 1.59
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol (2011) 1.55
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet (2005) 1.51
Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis, LTP and spatial memory. Nat Neurosci (2011) 1.37
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet (2006) 1.35
CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. J Neurosci (2010) 1.33
Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet (2005) 1.32
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics (1998) 1.23
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev (2009) 1.23
CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. J Biol Chem (2008) 1.22
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem (2006) 1.18
Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission. Biol Psychiatry (2008) 1.16
Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1. Biochem Biophys Res Commun (2008) 1.16
The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia (2008) 1.11
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. Hum Mol Genet (2005) 1.04
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics (2011) 1.02
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clin Genet (2009) 0.99
Characterization of interstitial Xp duplications in two families by tiling path array CGH. Am J Med Genet A (2008) 0.99
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet (2006) 0.99
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics (2009) 0.99
CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia (2011) 0.96
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain. Hum Genet (2011) 0.95
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia (2009) 0.94
CDKL5 is a brain MeCP2 target gene regulated by DNA methylation. Neurobiol Dis (2010) 0.94
Epilepsy caused by CDKL5 mutations. Eur J Paediatr Neurol (2010) 0.91
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet (2007) 0.90
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. Am J Med Genet A (2009) 0.90
Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. Eur J Paediatr Neurol (2011) 0.88
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. Eur J Paediatr Neurol (2009) 0.88
Clinical phenotype of 5 females with a CDKL5 mutation. J Child Neurol (2011) 0.88
Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation. J Biol Chem (2011) 0.87
Extrasynaptic GABA and glutamate receptors in epilepsy. CNS Neurol Disord Drug Targets (2007) 0.86
Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. Am J Med Genet A (2010) 0.86
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet (2010) 0.86
Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Pediatr Neurol (2012) 0.85
A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5. Brain Dev (2011) 0.84
Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. Am J Med Genet B Neuropsychiatr Genet (2010) 0.84
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain. J Hum Genet (2010) 0.82
Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. Epilepsy Behav (2007) 0.79
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. J Hum Genet (2010) 0.78
9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features. Eur J Med Genet (2011) 0.77
Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals. Am J Med Genet A (2010) 0.77
A CDKL5 mutated child with precocious puberty. Am J Med Genet A (2009) 0.76
Incidence and predictors of early and late mortality after transcatheter aortic valve implantation in 663 patients with severe aortic stenosis. Circulation (2011) 3.63
Intermediate neuronal progenitors (basal progenitors) produce pyramidal-projection neurons for all layers of cerebral cortex. Cereb Cortex (2009) 2.51
Transcatheter aortic valve implantation: 3-year outcomes of self-expanding CoreValve prosthesis. Eur Heart J (2012) 2.22
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Coronary obstruction following transcatheter aortic valve-in-valve implantation for failed surgical bioprostheses. Catheter Cardiovasc Interv (2011) 2.06
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Neurogenin 2 controls cortical neuron migration through regulation of Rnd2. Nature (2008) 1.94
Molecular mechanisms of gene silencing mediated by DNA methylation. Mol Cell Biol (2002) 1.73
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet (2005) 1.72
Safety and efficacy of the subclavian approach for transcatheter aortic valve implantation with the CoreValve revalving system. Circ Cardiovasc Interv (2010) 1.42
Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. Hum Mol Genet (2011) 1.39
CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. J Biol Chem (2008) 1.22
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem (2006) 1.18
The valve-in-valve technique for treatment of aortic bioprosthesis malposition an analysis of incidence and 1-year clinical outcomes from the italian CoreValve registry. J Am Coll Cardiol (2011) 1.11
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. Hum Mol Genet (2010) 1.10
Outcomes After Transcatheter Aortic Valve Replacement With Balloon-Expandable Versus Self-Expandable Valves: CHOICE Trial Results. J Am Coll Cardiol (2016) 1.07
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. Hum Mol Genet (2009) 1.05
Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the mitochondrial fusion factor OPA1. Exp Cell Res (2010) 1.03
Methyl-CpG-binding protein 2 is phosphorylated by homeodomain-interacting protein kinase 2 and contributes to apoptosis. EMBO Rep (2009) 0.99
Modulation of beta-amyloid metabolism by non-steroidal anti-inflammatory drugs in neuronal cell cultures. J Neurochem (2004) 0.98
Patent foramen ovale and cryptogenic stroke. N Engl J Med (2013) 0.97
The protomap is propagated to cortical plate neurons through an Eomes-dependent intermediate map. Proc Natl Acad Sci U S A (2013) 0.97
Prenatal stress elicits regionally selective changes in basal FGF-2 gene expression in adulthood and alters the adult response to acute or chronic stress. Neurobiol Dis (2005) 0.96
2-year results of CoreValve implantation through the subclavian access: a propensity-matched comparison with the femoral access. J Am Coll Cardiol (2012) 0.95
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain. Hum Genet (2011) 0.95
Prostaglandin E2-induced synaptic plasticity in neocortical networks of organotypic slice cultures. J Neurosci (2010) 0.94
Corticostriatal brain-derived neurotrophic factor dysregulation in adult rats following prenatal stress. Eur J Neurosci (2004) 0.92
Retinoic acid receptor alpha fusion to PML affects its transcriptional and chromatin-remodeling properties. Mol Cell Biol (2003) 0.91
Dynamic interactions between intermediate neurogenic progenitors and radial glia in embryonic mouse neocortex: potential role in Dll1-Notch signaling. J Neurosci (2013) 0.91
Role of imaging in interventions on structural heart disease. Expert Rev Cardiovasc Ther (2013) 0.90
Chronic treatment with fluoxetine up-regulates cellular BDNF mRNA expression in rat dopaminergic regions. Int J Neuropsychopharmacol (2005) 0.90
Corticostriatal up-regulation of activity-regulated cytoskeletal-associated protein expression after repeated exposure to cocaine. Mol Pharmacol (2006) 0.89
Emerging role of the FGF system in psychiatric disorders. Trends Pharmacol Sci (2005) 0.88
Synaptophysin I selectively specifies the exocytic pathway of synaptobrevin 2/VAMP2. Biochem J (2007) 0.88
Effect of antipsychotic drugs on brain-derived neurotrophic factor expression under reduced N-methyl-D-aspartate receptor activity. J Neurosci Res (2003) 0.88
Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation. J Biol Chem (2011) 0.87
Spatio-temporal dynamics and localization of MeCP2 and pathological mutants in living cells. Epigenetics (2007) 0.85
Quetiapine regulates FGF-2 and BDNF expression in the hippocampus of animals treated with MK-801. Neuroreport (2004) 0.85
Gender differences in patients undergoing TAVI: a multicentre study. EuroIntervention (2013) 0.85
The Virtual histology In CaroTids Observational RegistrY (VICTORY) study: a European prospective registry to assess the feasibility and safety of intravascular ultrasound and virtual histology during carotid interventions. Int J Cardiol (2013) 0.84
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Drug-coated balloon treatment of coronary artery disease: a position paper of the Italian Society of Interventional Cardiology. Catheter Cardiovasc Interv (2013) 0.84
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CoreValve implantation for severe aortic regurgitation: a multicentre registry. EuroIntervention (2014) 0.83
Acute kidney injury after transcatheter aortic valve implantation with self-expanding CoreValve prosthesis: results from a large multicentre Italian research project. EuroIntervention (2014) 0.81
Drug eluting stents versus bare metal stents in the treatment of saphenous vein graft disease: a systematic review and meta-analysis. EuroIntervention (2010) 0.81
Clinical impact of persistent left bundle-branch block after transcatheter aortic valve implantation with CoreValve Revalving System. Circulation (2013) 0.81
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A novel protein, Xenopus p20, influences the stability of MeCP2 through direct interaction. J Biol Chem (2004) 0.79
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