(Q36852835)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22483671%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

X inactivation in females with X-linked Charcot-Marie-Tooth disease (English)

1 reference

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28 January 2020

7

1 reference

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28 January 2020

Michael Shy

10

1 reference

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28 January 2020

11

Mary M Reilly

1 reference

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28 January 2020

author name string

Sinéad M Murphy

1

1 reference

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28 January 2020

Richard Ovens

2

1 reference

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28 January 2020

James Polke

3

1 reference

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28 January 2020

Carly E Siskind

4

1 reference

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28 January 2020

Matilde Laurà

5

1 reference

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28 January 2020

Karen Bull

6

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28 January 2020

Henry Houlden

8

1 reference

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28 January 2020

Raymond P J Murphy

9

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28 January 2020

publication date

6 April 2012

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28 January 2020

published in

Neuromuscular Disorders

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28 January 2020

volume

22

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28 January 2020

issue

7

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28 January 2020

page(s)

617-621

1 reference

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Charcot-Marie-Tooth disease subtypes and genetic testing strategies

28 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

Comparison of X-chromosome inactivation patterns in multiple tissues from human females

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

Skewed X inactivation in healthy individuals and in different diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

MeCP2 in neurons: closing in on the causes of Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

X-chromosome inactivation: counting, choice and initiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

Heritability of X chromosome--inactivation phenotype in a large family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

Reliability and validity of the CMT neuropathy score as a measure of disability.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

Connexin32-null mice develop demyelinating peripheral neuropathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657177

Tissue specificity of X-chromosome inactivation patterns

4 September 2018

1 reference

12 December 2020

X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency

1 reference

12 December 2020

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction

1 reference

12 December 2020

CMT1X phenotypes represent loss of GJB1 gene function

1 reference

12 December 2020

Phenotype expression in women with CMT1X

1 reference

12 December 2020

A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female

1 reference

12 December 2020

Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B

1 reference

12 December 2020

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

1 reference

12 December 2020

Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families

1 reference

12 December 2020

10.1016/J.NMD.2012.02.009

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22483671%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

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28 January 2020

PubMed publication ID

22483671

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22483671%20AND%20SRC:MED&resulttype=core&format=json