(Q24596295)

Jeffrey L Neul

1

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John Christodoulou

John Christodoulou

4

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Alessandra Renieri

Alessandra Renieri

11

0 references

Alan K. Percy

13

Alan K Percy

0 references

Walter E Kaufmann

2

Walter E Kaufmann

0 references

Daniel G Glaze

3

Daniel G Glaze

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author name string

Angus J Clarke

5

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Helen Leonard

7

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Mark E S Bailey

8

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N Carolyn Schanen

9

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Michele Zappella

10

0 references

Peter Huppke

FOXG1 is responsible for the congenital variant of Rett syndrome

12

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language of work or name

English

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publication date

December 2010

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published in

Annals of Neurology

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volume

68

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issue

6

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page(s)

944-50

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

Key clinical features to identify girls with CDKL5 mutations

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

Identification of MeCP2 mutations in a series of females with autistic disorder

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

Rett syndrome: North American database

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

On a unusual brain atrophy syndrome in hyperammonemia in childhood

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

The Rett girls with preserved speech

27 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

27 September 2017

Early progressive encephalopathy in boys and MECP2 mutations

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

The clinical pattern of the Rett syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

Rett syndrome: report of eight cases

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

Atypical forms of Rett syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058521

Rett variants: a suggested model for inclusion criteria.

30 May 2018

1 reference

Trisomy 21 and Rett syndrome: a double burden

21 January 2018

1 reference

Abnormal general movements in girls with Rett disorder: the first four months of life.

21 January 2018

1 reference

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

21 January 2018

1 reference

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

21 January 2018

1 reference

Head growth in Rett syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21154482

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21154482

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ANA.22124

1 reference

1 reference

1 reference

PubMed publication ID

21154482

1 reference