| case report | Q2782326 |
| scholarly article | Q13442814 |
| P50 | author | Jozef Gécz | Q16230617 |
| Hans-Hilger Ropers | Q20607814 | ||
| Jiong Tao | Q114446568 | ||
| Eberhard Schwinger | Q114446569 | ||
| Kirsten Hoffmann | Q114446571 | ||
| Jean-Pierre Fryns | Q28468805 | ||
| Martine Raynaud | Q28468807 | ||
| Hilde Van Esch | Q28468811 | ||
| Vera M. Kalscheuer | Q28468812 | ||
| Bettina Moser | Q32422682 | ||
| P2093 | author name string | Jürgen Sperner | |
| M Hagedorn-Greiwe | |||
| P2860 | cites work | Identification of NKIAMRE, the human homologue to the mitogen-activated protein kinase-/cyclin-dependent kinase-related protein kinase NKIATRE, and its loss in leukemic blasts with chromosome arm 5q deletion | Q22010484 |
| Molecular cloning of the epidermal growth factor-stimulated protein kinase p56 KKIAMRE | Q24314591 | ||
| Structural basis of cyclin-dependent kinase activation by phosphorylation | Q24315902 | ||
| Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex | Q24324026 | ||
| Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation | Q24532056 | ||
| Activation mechanism of the MAP kinase ERK2 by dual phosphorylation | Q27743261 | ||
| Protein kinases 6. The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification | Q28131753 | ||
| Identification of MeCP2 mutations in a series of females with autistic disorder | Q28207072 | ||
| Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA | Q28265233 | ||
| Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2 | Q28941210 | ||
| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
| A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos | Q33973072 | ||
| A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases | Q34056069 | ||
| Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms | Q34144292 | ||
| MECP2 mutation in non-fatal, non-progressive encephalopathy in a male | Q35436994 | ||
| Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein | Q35437213 | ||
| The clinical pattern of the Rett syndrome | Q41934117 | ||
| Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome | Q43076197 | ||
| MECP2 is highly mutated in X-linked mental retardation | Q48369835 | ||
| Neonatal encephalopathy in two boys in families with recurrent Rett syndrome | Q48453353 | ||
| Rett syndrome: clinical manifestations in males with MECP2 mutations | Q48650852 | ||
| Rett variants: a suggested model for inclusion criteria | Q50304366 | ||
| Atypical forms of Rett syndrome | Q50342861 | ||
| The Distribution and Biochemical Properties of a Cdc2‐Related Kinase, KKIALRE, in Normal and Alzheimer Brains | Q53311445 | ||
| Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. | Q54493491 | ||
| In-frame deletion inMECP2 causes mild nonspecific mental retardation | Q58061411 | ||
| Two affected boys in a Rett syndrome family: clinical and molecular findings | Q73172439 | ||
| A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients | Q73530772 | ||
| The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification 1 | Q107343694 | ||
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 1149-54 | |
| P577 | publication date | 2004-12-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | |
| P478 | volume | 75 |
| Q36809678 | 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. |
| Q92130280 | A kinome-wide screen identifies a CDKL5-SOX9 regulatory axis in epithelial cell death and kidney injury |
| Q58094724 | A new consensus for evaluating CDKL5/STK9-dependent signalling mechanisms |
| Q49060228 | A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain. |
| Q36006568 | Adult Phenotypes in Angelman- and Rett-Like Syndromes |
| Q37624658 | Advancing drug discovery for neuropsychiatric disorders using patient-specific stem cell models |
| Q92761256 | Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder |
| Q28246317 | Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder |
| Q60894792 | An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain |
| Q52606025 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. |
| Q43168847 | Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region |
| Q37433978 | Balanced translocations in mental retardation |
| Q34065204 | CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation |
| Q37714068 | CDKL1 promotes tumor proliferation and invasion in colorectal cancer. |
| Q89805320 | CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy |
| Q37092175 | CDKL5 and ARX mutations in males with early-onset epilepsy |
| Q24303656 | CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome |
| Q50305506 | CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. |
| Q24651382 | CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail |
| Q34367603 | CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain |
| Q39827058 | CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice. |
| Q36930153 | CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. |
| Q92139608 | CDKL5 promotes proliferation, migration, and chemotherapeutic drug resistance of glioma cells via activation of the PI3K/AKT signaling pathway |
| Q47134048 | CDKL5 variants: Improving our understanding of a rare neurologic disorder |
| Q39291385 | CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells. |
| Q28574630 | CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling |
| Q36006599 | CDKL5-Related Disorders: From Clinical Description to Molecular Genetics |
| Q51827365 | Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy. |
| Q36055559 | Characterisation of CDKL5 Transcript Isoforms in Human and Mouse |
| Q62084107 | Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics |
| Q28260149 | Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature |
| Q35101573 | Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients |
| Q54361323 | Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl. |
| Q43146152 | Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients |
| Q47366285 | Current developments in the genetics of Rett and Rett-like syndrome |
| Q64939210 | Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. |
| Q50304287 | Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders |
| Q37608236 | Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing |
| Q34415995 | Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. |
| Q34249436 | Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? |
| Q33564995 | Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain. |
| Q34325839 | Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4 |
| Q51928093 | Early onset seizures and Rett-like features associated with mutations in CDKL5. |
| Q37615626 | Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies |
| Q37784961 | Epigenetics, Copy Number Variation, and Other Molecular Mechanisms Underlying Neurodevelopmental Disabilities: New Insights and Diagnostic Approaches |
| Q38045465 | Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. |
| Q54199836 | FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome. |
| Q24647431 | FOXG1 is responsible for the congenital variant of Rett syndrome |
| Q27020947 | From Learning to Memory: What Flies Can Tell Us about Intellectual Disability Treatment |
| Q55017288 | Functional abilities in children and adults with the CDKL5 disorder. |
| Q64078571 | Functional and Structural Impairments in the Perirhinal Cortex of a Mouse Model of CDKL5 Deficiency Disorder Are Rescued by a TrkB Agonist |
| Q24300800 | Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation |
| Q47879364 | GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy |
| Q34529963 | Genetics and pathophysiology of mental retardation |
| Q38164570 | Genetics, molecular biology, and phenotypes of x-linked epilepsy |
| Q48599692 | HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder |
| Q45970066 | Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. |
| Q36886682 | Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. |
| Q35595321 | Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders |
| Q33811032 | Involvement of cyclin-dependent kinase-like 2 in cognitive function required for contextual and spatial learning in mice. |
| Q28293847 | Key clinical features to identify girls with CDKL5 mutations |
| Q34097099 | Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling. |
| Q36286534 | MECP2 abnormality phenotypes: clinicopathologic area with broad variability |
| Q28272755 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome |
| Q50225101 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning |
| Q47661198 | Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors |
| Q92782695 | Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder? |
| Q33752190 | Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder |
| Q28240924 | Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized |
| Q57847789 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms |
| Q37599744 | Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability |
| Q34599654 | Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. |
| Q33910551 | Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. |
| Q24644799 | NTNG1 mutations are a rare cause of Rett syndrome |
| Q36180117 | Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature |
| Q35722175 | Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. |
| Q42681086 | Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome |
| Q28236247 | Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes |
| Q37708281 | Optimizing neuronal differentiation from induced pluripotent stem cells to model ASD |
| Q28975458 | Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development |
| Q92098641 | Phenotype to Genotype and Back Again |
| Q50305293 | Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion |
| Q47215690 | Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway |
| Q63976989 | Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase |
| Q28274920 | Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome |
| Q54505733 | Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. |
| Q88605499 | Regulation of seizure-induced MeCP2 Ser421 phosphorylation in the developing brain |
| Q55056221 | Rett Syndrome. |
| Q90072101 | Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene |
| Q34402592 | Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission |
| Q50422613 | Rett syndrome: a neurological disorder with metabolic components |
| Q36545755 | Rett syndrome: new clinical and molecular insights. |
| Q24594966 | Seizures and X-linked intellectual disability |
| Q33408779 | Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females |
| Q28272644 | The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy |
| Q28602830 | The Immune Syntax Revisited: Opening New Windows on Language Evolution |
| Q48435196 | The neuropathological consequences of CDKL5 mutation |
| Q39332606 | The role of genetic testing in epilepsy diagnosis and management |
| Q37251436 | Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice |
| Q37741362 | Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching |
| Q38730212 | Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients. |
| Q37002460 | Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls |
| Q28270699 | What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy |
| Q56270643 | X-linked mental retardation |
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