Review article: breaking new ground with Rett syndrome (Q28187714)

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Neuropathology of Rett syndrome

21 January 2018

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

21 January 2018

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Methylation-induced repression--belts, braces, and chromatin

21 January 2018

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Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome

21 January 2018

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

21 January 2018

1 reference

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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.

21 January 2018

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

21 January 2018

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Substance P immunoreactivity in Rett syndrome

21 January 2018

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Methylation-dependent silencing at the H19 imprinting control region by MeCP2

21 January 2018

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Precipitous release of methyl-CpG binding protein 2 and histone deacetylase 1 from the methylated human multidrug resistance gene (MDR1) on activation

21 January 2018

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Parental origin of de novo MECP2 mutations in Rett syndrome

21 January 2018

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

21 January 2018

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The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome

21 January 2018

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21 January 2018

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

21 January 2018

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The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome

21 January 2018

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The cortical topography of tonal structures underlying Western music

21 January 2018

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Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

21 January 2018

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

21 January 2018

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Mind and brain in Rett disorder

21 January 2018

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A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome

21 January 2018

1 reference

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De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

21 January 2018

1 reference

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

21 January 2018

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Initial sequencing and analysis of the human genome

21 January 2018

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The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome.

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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DNA methylation specifies chromosomal localization of MeCP2.

21 January 2018

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A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2.

21 January 2018

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Clinical trials and treatment prospects

21 January 2018

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

21 January 2018

1 reference

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Rett syndrome and MeCP2: linking epigenetics and neuronal function

21 January 2018

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MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

21 January 2018

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Methyl CpG-binding proteins and transcriptional repression

21 January 2018

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

21 January 2018

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MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome

21 January 2018

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Motion analysis of stereotyped hand movements in Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2788.2003.00506.X

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

21 January 2018

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Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

21 January 2018

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

21 January 2018

1 reference

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21 January 2018

1 reference

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A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

21 January 2018

1 reference

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Head growth in Rett syndrome

21 January 2018

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

21 January 2018

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High levels of cerebrospinal fluid glutamate in Rett syndrome

21 January 2018

1 reference

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Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

21 January 2018

1 reference

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Two affected boys in a Rett syndrome family: clinical and molecular findings

21 January 2018

1 reference

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