(Q37178721)

18 August 2017

Brain metabolism in Rett syndrome: age, clinical, and genotype correlations (English)

1 reference

18 August 2017

0 references

1 reference

5

Walter E Kaufmann

1 reference

18 August 2017

Alena Horská

1

1 reference

18 August 2017

Luciano Farage

2

1 reference

18 August 2017

Genila Bibat

3

1 reference

18 August 2017

Lídia M Nagae

4

1 reference

18 August 2017

Peter B Barker

6

1 reference

18 August 2017

SakkuBai Naidu

7

1 reference

18 August 2017

1 January 2009

1 reference

18 August 2017

1 reference

18 August 2017

65

1 reference

18 August 2017

1

1 reference

18 August 2017

90-97

1 reference

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

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

MeCP2 mutation causes distinguishable phases of acute and chronic defects in synaptogenesis and maintenance, respectively

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Very mild cases of Rett syndrome with skewed X inactivation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Genotype and early development in Rett syndrome: the value of international data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Relationships between astrogliosis and 1H MR spectroscopic measures of brain choline/creatine and myo-inositol/creatine in a primate model.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Clinical variability in Rett syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Rett Syndrome -- an update

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Proton MR spectroscopy in Rett syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Neuroimaging studies in Rett syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

The clinical recognition and differential diagnosis of Rett syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Abnormal expression of microtubule-associated protein 2 (MAP-2) in neocortex in Rett syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Rett syndrome: a disorder affecting early brain growth

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Brain perfusion SPECT and EEG findings in Rett syndrome.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Neuroanatomy in Rett syndrome: cerebral cortex and posterior fossa

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Neuroanatomy of Rett syndrome: a volumetric imaging study

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Multinuclear NMR studies on the energy metabolism of glial and neuronal cells

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Rett syndrome: long-term clinical follow-up experiences over four decades.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Is the early development of girls with Rett disorder really normal?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Refining the phenotype of common mutations in Rett syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Brain glucose metabolism in Rett Syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Automatic quantitation of localized in vivo 1H spectra with LCModel.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

Brain perfusion abnormalities in Rett syndrome: a qualitative and quantitative SPET study with 99Tc(m)-ECD.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

3 September 2018

Review of Rett syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676876

High levels of cerebrospinal fluid glutamate in Rett syndrome

3 September 2018

1 reference

12 December 2020

Cerebral proton magnetic resonance spectroscopy in Rett syndrome

1 reference

12 December 2020

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype

1 reference

12 December 2020

Rett syndrome in females with CTS hot spot deletions: a disorder profile

1 reference

12 December 2020

Neuropathology of Rett syndrome

1 reference

12 December 2020

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

1 reference

12 December 2020

Quantitative 1H MR spectroscopic imaging in early Rett syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Neuropathology of Rett syndrome

1 reference

12 December 2020

Pervasive neuroanatomic abnormalities of the brain in three cases of Rett's syndrome

1 reference

12 December 2020

Microscopic Observations of the Brain in Rett Syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.21562

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

19194883

1 reference