Clinical variability in Rett syndrome (Q35597790)

9 August 2017

1 reference

title

Clinical variability in Rett syndrome (English)

1 reference

9 August 2017

0 references

SakkuBai Naidu

1

1 reference

9 August 2017

Genila Bibat

2

1 reference

9 August 2017

Lisa Kratz

3

1 reference

9 August 2017

Richard I Kelley

4

1 reference

9 August 2017

Jonathan Pevsner

5

1 reference

9 August 2017

Eric Hoffman

6

1 reference

9 August 2017

Carmen Cuffari

7

1 reference

9 August 2017

Charles Rohde

8

1 reference

9 August 2017

Mary E Blue

9

1 reference

9 August 2017

Michael V Johnston

10

1 reference

9 August 2017

1 October 2003

1 reference

Journal of Child Neurology

9 August 2017

1 reference

9 August 2017

18

1 reference

9 August 2017

10

1 reference

9 August 2017

662-668

1 reference

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

9 August 2017

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Rett syndrome: a disorder affecting early brain growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

A Rett syndrome MECP2 mutation that causes mental retardation in men.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Rethinking the fate of males with mutations in the gene that causes Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Study of MECP2 gene in Rett syndrome variants and autistic girls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

The clinical recognition and differential diagnosis of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Early clinical signs in the Rett disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Neurobiology of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Role of the posterolateral cerebellum in language

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

The cerebellum: a neuronal learning machine?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Differential effects of developmental cerebellar abnormality on cognitive and motor functions in the cerebellum: an fMRI study of autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Evidence for a cerebellar role in reduced exploration and stereotyped behavior in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

The possible role of the cerebellum in autism/PDD: disruption of a multisensory feedback loop.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Rett syndrome: cerebellar pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

The cerebellothalamocortical pathway in essential tremor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

An unfolded map of the cerebellar dentate nucleus and its projections to the cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Development of amino acid receptors in frontal cortex from girls with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Oxidative metabolism in Rett syndrome: 1. Clinical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Oxidative metabolism in Rett syndrome: 2. Biochemical and molecular studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

NMDA receptor-dependent CREB activation in survival of cerebellar granule cells during in vivo and in vitro development

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

NMDA receptors and PSD-95 are found in attachment plaques in cerebellar granular layer glomeruli

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

The role of neuronal energy in the neurotoxicity of excitatory amino acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Cyclooxygenase-2 inhibition protects cultured cerebellar granule neurons from glutamate-mediated cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Target-specific innervation of embryonic cerebellar transplants by regenerating olivocerebellar axons in the adult rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Contribution of transplanted bone marrow cells to Purkinje neurons in human adult brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Cerebellar allografts survive and transiently alleviate ataxia in a transgenic model of spinocerebellar ataxia type-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Purkinje cell transplants in Shaker mutant rats with hereditary Purkinje cell degeneration and ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Functional consequences of Rett syndrome mutations on human MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180100801

10.1177/08830738030180100801

21 January 2018

Identifiers

DOI

0 references

1 reference