(Q38375116)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27934853%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

review article

1 reference

title

Clinical and biological progress over 50 years in Rett syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27934853%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

0 references

Stuart Cobb

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27934853%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

language of work or name

English

0 references

publication date

9 December 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27934853%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

published in

Nature Reviews Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27934853%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27934853%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27934853%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

page(s)

37-51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27934853%20AND%20SRC:MED&resulttype=core&format=json

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

29 March 2020

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An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

31 March 2020

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Rett syndrome: revised diagnostic criteria and nomenclature

31 March 2020

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

31 March 2020

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A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

31 March 2020

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Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

31 March 2020

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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

31 March 2020

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MECP2 mutations account for most cases of typical forms of Rett syndrome.

31 March 2020

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MeCP2 mutations in children with and without the phenotype of Rett syndrome

31 March 2020

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Influence of mutation type and location on phenotype in 123 patients with Rett syndrome

31 March 2020

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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

31 March 2020

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Rett syndrome: a surprising result of mutation in MECP2.

31 March 2020

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Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

31 March 2020

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Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients

31 March 2020

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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

31 March 2020

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A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells

31 March 2020

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Disease modeling using embryonic stem cells: MeCP2 regulates nuclear size and RNA synthesis in neurons

31 March 2020

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GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

31 March 2020

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Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons

31 March 2020

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X-chromosome inactivation in rett syndrome human induced pluripotent stem cells

31 March 2020

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A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

31 March 2020

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Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

31 March 2020

1 reference

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Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice

31 March 2020

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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

31 March 2020

1 reference

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Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.

31 March 2020

1 reference

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Leptin resistance and obesity in mice with deletion of methyl-CpG-binding protein 2 (MeCP2) in hypothalamic pro-opiomelanocortin (POMC) neurons.

31 March 2020

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Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

31 March 2020

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Cellular origins of auditory event-related potential deficits in Rett syndrome

31 March 2020

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Loss of MeCP2 from forebrain excitatory neurons leads to cortical hyperexcitation and seizures

31 March 2020

1 reference

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MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan

31 March 2020

1 reference

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Rett syndrome: a complex disorder with simple roots

31 March 2020

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Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders

31 March 2020

1 reference

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Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows

31 March 2020

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Adult neural function requires MeCP2.

31 March 2020

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Reversal of neurological defects in a mouse model of Rett syndrome

31 March 2020

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Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome

31 March 2020

1 reference

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Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome.

31 March 2020

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Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

31 March 2020

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Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.

31 March 2020

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A role for glia in the progression of Rett's syndrome

31 March 2020

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Oligodendrocyte lineage cells contribute unique features to Rett syndrome neuropathology

31 March 2020

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DNA methylation reader MECP2: cell type- and differentiation stage-specific protein distribution

31 March 2020

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Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes

31 March 2020

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Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology

31 March 2020

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Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

31 March 2020

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Unrecognized lung disease in classic Rett syndrome: a physiologic and high-resolution CT imaging study.

31 March 2020

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Vascular dysfunction in a mouse model of Rett syndrome and effects of curcumin treatment

31 March 2020

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Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome

31 March 2020

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Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome.

31 March 2020

1 reference

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Biomechanical properties of bone in a mouse model of Rett syndrome

31 March 2020

1 reference

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Osteoblast function and bone histomorphometry in a murine model of Rett syndrome.

31 March 2020

1 reference

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MeCP2 Affects Skeletal Muscle Growth and Morphology through Non Cell-Autonomous Mechanisms

31 March 2020

1 reference

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The role of MeCP2 in the brain.

31 March 2020

1 reference

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Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

VPA alleviates neurological deficits and restores gene expression in a mouse model of Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system.

31 March 2020

1 reference

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Dynamic readers for 5-(hydroxy)methylcytosine and its oxidized derivatives

31 March 2020

1 reference

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The nuclear DNA base 5-hydroxymethylcytosine is present in Purkinje neurons and the brain

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

31 March 2020

1 reference

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An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders

31 March 2020

1 reference

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Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

31 March 2020

1 reference

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DNA methylation patterns and epigenetic memory

31 March 2020

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MeCP2, a key contributor to neurological disease, activates and represses transcription

31 March 2020

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Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

31 March 2020

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Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

31 March 2020

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The Ski protein family is required for MeCP2-mediated transcriptional repression

31 March 2020

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A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos

31 March 2020

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Cell-type-specific repression by methyl-CpG-binding protein 2 is biased toward long genes

31 March 2020

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Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

31 March 2020

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Methyl CpG-binding proteins induce large-scale chromatin reorganization during terminal differentiation

31 March 2020

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Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

31 March 2020

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Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition

31 March 2020

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MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8/Drosha complex

31 March 2020

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Homeostatic regulation of MeCP2 expression by a CREB-induced microRNA

31 March 2020

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Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p

31 March 2020

1 reference

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Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function.

31 March 2020

1 reference

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Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.

31 March 2020

1 reference

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Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

31 March 2020

1 reference

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

31 March 2020

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Expanding the clinical picture of the MECP2 Duplication syndrome

31 March 2020

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Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides

31 March 2020

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Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

31 March 2020

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Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome

31 March 2020

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MeCP2-dependent transcriptional repression regulates excitatory neurotransmission

31 March 2020

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MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number

31 March 2020

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Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis, LTP and spatial memory

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Synaptic plasticity deficits in an experimental model of rett syndrome: long-term potentiation saturation and its pharmacological reversal.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome

31 March 2020

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The epidemiology and public health significance of Rett syndrome

31 March 2020

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The Rett girls with preserved speech

31 March 2020

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31 March 2020

12 December 2020

Rett variants: a suggested model for inclusion criteria.

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Head growth in Rett syndrome

31 March 2020

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Neurodevelopmental disorders: Clinical criteria for Rett syndrome.

31 March 2020

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A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children

31 March 2020

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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

FOXG1 is responsible for the congenital variant of Rett syndrome

31 March 2020

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Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Preserved speech variant is allelic of classic Rett syndrome

31 March 2020

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Clinical delineation of Rett syndrome variants

31 March 2020

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Rett syndrome--a review and discussion of syndrome delineation and syndrome definition.

31 March 2020

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MECP2 abnormality phenotypes: clinicopathologic area with broad variability

31 March 2020

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Updating the profile of C-terminal MECP2 deletions in Rett syndrome

31 March 2020

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Brief report: MECP2 mutations in people without Rett syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Guidelines for reporting clinical features in cases with MECP2 mutations.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Rett syndrome: clinical correlates of the newly discovered gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Rett syndrome in Spain: mutation analysis and clinical correlations.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Describing the phenotype in Rett syndrome using a population database

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

The phenotype associated with a large deletion on MECP2.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome--Mecp2 gene dosage effects and BDNF expression

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Early development and regression in Rett syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Validating the Rett Syndrome Gross Motor Scale

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Twenty years of surveillance in Rett syndrome: what does this tell us?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

31 March 2020

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Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging

31 March 2020

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Rett syndrome: characterization of seizures versus non-seizures

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Predictors of seizure onset in Rett syndrome.

31 March 2020

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Seizures in Rett syndrome: an overview from a one-year calendar study

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Epilepsy and the natural history of Rett syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Using a large international sample to investigate epilepsy in Rett syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Epilepsy in Rett syndrome--lessons from the Rett networked database

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Hand and foot growth failure in Rett syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Altered energy balance may account for growth failure in Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Feeding Experiences and Growth Status in a Rett Syndrome Population

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Increased resting metabolic rate in girls with Rett syndrome compared to girls with developmental disabilities.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Growth failure and outcome in Rett syndrome: specific growth references

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Experience of gastrostomy using a quality care framework: the example of rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Assessment and management of nutrition and growth in Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Gastrointestinal dysmotility in Rett syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Rett females: patterns of characteristic side-asymmetric neuroimpairments at long-term follow-up

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

The Natural History of Scoliosis in Females With Rett Syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Profiling scoliosis in Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Evidence basis for management of spine and chest wall deformities in children

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Sleep problems in Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

The trajectories of sleep disturbances in Rett syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Osteopenia in Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

A population-based approach to the investigation of osteopenia in Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Early determinants of fractures in Rett syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

DXA measurements in rett syndrome reveal small bones with low bone mass

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Patients with Rett syndrome sustain low-energy fractures

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Bone mineral content and density in Rett syndrome and their contributing factors

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Valproate and risk of fracture in Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Osteoporosis in Rett syndrome: a case study presenting a novel management intervention for severe osteoporosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Rett Syndrome: Crossing the Threshold to Clinical Translation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Rett Syndrome: Reaching for Clinical Trials

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Rett syndrome treatment in mouse models: searching for effective targets and strategies.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Gene therapy for Rett syndrome: prospects and challenges

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

MeCP2: only 100% will do.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Genetic and pharmacological reactivation of the mammalian inactive X chromosome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Rett syndrome and associated movement disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Autonomic dysregulation in young girls with Rett Syndrome during nighttime in-home recordings

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Trends in the diagnosis of Rett syndrome in Australia.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Refining the phenotype of common mutations in Rett syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Resourceful and creative methods are necessary to research rare disorders.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

The American history of Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

InterRett, a model for international data collection in a rare genetic disorder

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Role of the International Rett Syndrome Association.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Looking from the inside out: a parent's perspective

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Results of surgery for scoliosis in Rett syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Family satisfaction following spinal fusion in Rett syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Longevity in Rett syndrome: analysis of the North American Database

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

How can the Internet help parents of children with rare neurologic disorders?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.186

Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence

31 March 2020

1 reference

12 December 2020

On a unusual brain atrophy syndrome in hyperammonemia in childhood

1 reference

12 December 2020

Selective dendritic alterations in the cortex of Rett syndrome

1 reference

12 December 2020

Is the girl with Rett syndrome normal at birth?

1 reference

12 December 2020

Rett's syndrome in the west of Scotland

1 reference

12 December 2020

The prevalence and incidence of Rett syndrome in Australia

1 reference

12 December 2020

Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations

1 reference

12 December 2020

1 reference

12 December 2020

Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment.

1 reference

12 December 2020

Epilepsy in a representative series of Rett syndrome.

1 reference

12 December 2020

Atypical forms of Rett syndrome.

1 reference

12 December 2020

Rett syndrome--natural history in 70 cases

1 reference

12 December 2020

MeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex

1 reference

12 December 2020

Vitamin D deficiency is prevalent in girls and women with Rett syndrome

1 reference

12 December 2020

Epidemiology of Rett syndrome: a population-based registry.

1 reference

12 December 2020