Research graph
References from The utility of the term ‘Rett‐like’ in relation to Rett syndrome: A systematic review. Local targets link to admitted publications; unresolved targets remain external evidence.
On a unusual brain atrophy syndrome in hyperammonemia in childhood
1966 · External reference
Rett syndrome: Revised diagnostic criteria and nomenclature
10.1002/ana.22124 · 2010 · External reference
The Rett Syndrome Diagnostic Criteria Work Group
10.1002/ana.410230432 · 1988 · External reference
Rett syndrome and MeCP2
10.1007/s12017-014-8295-9 · 2014 · External reference
Genetic landscape of rett syndrome spectrum: Improvements and challenges
2019 · External reference
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
10.1016/j.ejpn.2019.04.006 · 2019 · External reference
Current developments in the genetics of Rett and Rett‐like syndrome
10.1097/yco.0000000000000389 · 2018 · External reference
Preferred reporting items for systematic reviews and meta‐analyses: the PRISMA statement
10.1136/bmj.b2535 · 2009 · External reference
Quality appraisal of systematic reviews of interventions for children with cerebral palsy reveals critically low confidence
10.1111/dmcn.14949 · 2021 · External reference
Methodological quality and synthesis of case series and case reports
10.1136/bmjebm-2017-110853 · 2018 · External reference
GOnet: a tool for interactive Gene Ontology analysis
10.1186/s12859-018-2533-3 · 2018 · External reference
Expansion of the Gene Ontology knowledgebase and resources
10.1093/nar/gkw1108 · 2017 · External reference
Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes
10.1080/15622975.2019.1593501 · 2020 · External reference
Identification of a polymorphic, neuron‐specific chromatin remodeling complex
10.1101/gad.992102 · 2002 · External reference
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B‐related developmental brain disorders
10.1016/j.gim.2024.101251 · 2025 · External reference
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
10.1016/j.ajhg.2019.03.022 · 2019 · External reference
The role of the GluR2 subunit in AMPA receptor function and synaptic plasticity
10.1016/j.neuron.2007.06.001 · 2007 · External reference
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
10.1038/s41467-019-10910-w · 2019 · External reference
Misregulation of Alternative Splicing in a Mouse Model of Rett Syndrome
10.1371/journal.pgen.1006129 · 2016 · External reference
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
10.1136/jmg.2009.069732 · 2010 · External reference
Monogenic disorders that mimic the phenotype of Rett syndrome
10.1007/s10048-017-0535-3 · 2018 · External reference
Rett syndrome: Revised diagnostic criteria and nomenclature
10.1002/ana.22124 · ExternalCitation · doi-reference
The Rett Syndrome Diagnostic Criteria Work Group
10.1002/ana.410230432 · ExternalCitation · doi-reference
Monogenic disorders that mimic the phenotype of Rett syndrome
10.1007/s10048-017-0535-3 · ExternalCitation · doi-reference
Rett syndrome and MeCP2
10.1007/s12017-014-8295-9 · ExternalCitation · doi-reference
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
10.1016/j.ajhg.2019.03.022 · ExternalCitation · doi-reference
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
10.1016/j.ejpn.2019.04.006 · ExternalCitation · doi-reference
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B‐related developmental brain disorders
10.1016/j.gim.2024.101251 · ExternalCitation · doi-reference
The role of the GluR2 subunit in AMPA receptor function and synaptic plasticity
10.1016/j.neuron.2007.06.001 · ExternalCitation · doi-reference
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
10.1038/s41467-019-10910-w · ExternalCitation · doi-reference
Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes
10.1080/15622975.2019.1593501 · ExternalCitation · doi-reference
Expansion of the Gene Ontology knowledgebase and resources
10.1093/nar/gkw1108 · ExternalCitation · doi-reference
Current developments in the genetics of Rett and Rett‐like syndrome
10.1097/yco.0000000000000389 · ExternalCitation · doi-reference
Identification of a polymorphic, neuron‐specific chromatin remodeling complex
10.1101/gad.992102 · ExternalCitation · doi-reference
Quality appraisal of systematic reviews of interventions for children with cerebral palsy reveals critically low confidence
10.1111/dmcn.14949 · ExternalCitation · doi-reference
Preferred reporting items for systematic reviews and meta‐analyses: the PRISMA statement
10.1136/bmj.b2535 · ExternalCitation · doi-reference
Methodological quality and synthesis of case series and case reports
10.1136/bmjebm-2017-110853 · ExternalCitation · doi-reference
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
10.1136/jmg.2009.069732 · ExternalCitation · doi-reference
GOnet: a tool for interactive Gene Ontology analysis
10.1186/s12859-018-2533-3 · ExternalCitation · doi-reference
Misregulation of Alternative Splicing in a Mouse Model of Rett Syndrome
10.1371/journal.pgen.1006129 · ExternalCitation · doi-reference
