| P50 | author | Jiaping Wang | Q90072099 |
| P2093 | author name string | Yan Chen | |
| | Xinhua Bao | |
| | Xiru Wu | |
| | Qingping Zhang | |
| | Shujie Yu | |
| P2860 | cites work | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | Q22337290 |
| | De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood | Q24320029 |
| | Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 |
| | Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel | Q24555140 |
| | MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex | Q24563497 |
| | Rett syndrome: revised diagnostic criteria and nomenclature | Q24596295 |
| | Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis | Q24607347 |
| | Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo | Q24644531 |
| | FOXG1 is responsible for the congenital variant of Rett syndrome | Q24647431 |
| | The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome | Q26800087 |
| | BDNF deregulation in Rett syndrome | Q27005901 |
| | Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge | Q28073666 |
| | Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II | Q28177741 |
| | Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome | Q28236006 |
| | Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction | Q28298082 |
| | Clinical and genetic delineation of neurodegeneration with brain iron accumulation | Q28315639 |
| | Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype | Q30823060 |
| | Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs | Q30872698 |
| | WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature | Q31038516 |
| | NMDA receptor-deficient mice display sexual dimorphism in the onset and severity of behavioural abnormalities. | Q33359313 |
| | Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 |
| | Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability | Q34115675 |
| | Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses | Q34427575 |
| | Rett syndrome diagnostic criteria: lessons from the Natural History Study | Q34496045 |
| | KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. | Q35161567 |
| | KIF1A inhibition immortalizes brain stem cells but blocks BDNF-mediated neuronal migration | Q36515487 |
| | Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. | Q36982009 |
| | N-Methyl-D-Aspartate Receptors, Ketamine, and Rett Syndrome: Something Special on the Road to Treatments? | Q37046991 |
| | Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. | Q37410689 |
| | Neuroimaging features of neurodegeneration with brain iron accumulation. | Q37932848 |
| | IQSEC2 and X-linked syndromal intellectual disability | Q38787290 |
| | Rett syndrome: North American database | Q40137142 |
| | De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy | Q41840638 |
| | The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome | Q41986666 |
| | KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. | Q42501055 |
| | Diminished prevalence but preserved synaptic distribution of N-methyl-D-aspartate receptor subunits in the methyl CpG binding protein 2(MeCP2)-null mouse brain | Q43104191 |
| | Dendrite growth increased by visual activity requires NMDA receptor and Rho GTPases | Q44170949 |
| | Rett syndrome: a mitochondrial disease? | Q45758910 |
| | The molecular and phenotypic spectrum of IQSEC2-related epilepsy | Q47994851 |
| | Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing | Q48257224 |
| | Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study. | Q48327593 |
| | Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. | Q48487925 |
| | Motor protein KIF1A is essential for hippocampal synaptogenesis and learning enhancement in an enriched environment | Q48641358 |
| | Identification of novel genetic causes of Rett syndrome-like phenotypes | Q50307278 |
| | De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. | Q50679753 |
| | Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome. | Q51721520 |
| | Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. | Q51850375 |
| | The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. | Q52612488 |
| | Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. | Q52853889 |
| | Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements. | Q53118141 |
| | Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. | Q55253870 |
| | Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation | Q58093351 |
| | Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort | Q58580302 |
| | De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy | Q59545957 |
| | Expression of palmitoyl protein thioesterase in neurons | Q64380898 |
| P433 | issue | 11 | |
| P304 | page(s) | e968 | |
| P577 | publication date | 2019-09-11 | |
| P1433 | published in | Molecular genetics & genomic medicine | Q27724709 |
| P1476 | title | Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene | |
| P478 | volume | 7 | |