(Q41908068)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

PMP22 expression in dermal nerve myelin from patients with CMT1A (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1

1 reference

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28 January 2020

Michael Shy

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

Xingyao Wu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Shawna M E Feely

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Stephanie Sottile

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Carly E Siskind

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Lindsey J Miller

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Jun Li

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

language of work or name

English

0 references

publication date

15 May 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

132

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

issue

Pt 7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

page(s)

1734-1740

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

Charcot-Marie-Tooth neuropathies: diagnosis and management.

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=2724915

Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Medication-induced exacerbation of neuropathy in Charcot Marie Tooth disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Quantification of myelinated endings and mechanoreceptors in human digital skin.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

The phenotypic manifestations of chromosome 17p11.2 duplication.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Molecular anatomy and genetics of myelin proteins in the peripheral nervous system

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Quantitative analysis of myelin protein gene expression during development in the rat sciatic nerve.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

18 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP113

Neurons promote the translocation of peripheral myelin protein 22 into myelin

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

3 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724915

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

3 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP113

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP113

Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases

21 January 2018

1 reference

12 December 2020

Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

12 December 2020

Tomaculous neuropathy: hereditary predisposition to pressure palsies

1 reference

12 December 2020

Axonal regulation of myelin protein mRNA levels in actively myelinating Schwann cells

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Uncompacted inner myelin lamellae in inherited tendency to pressure palsy

1 reference

12 December 2020

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies

1 reference

12 December 2020

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

1 reference

12 December 2020

Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

1 reference

12 December 2020

Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP)

1 reference

12 December 2020

Peripheral myelin protein 22 kDa and protein zero: domain specific trans-interactions

1 reference

12 December 2020

IgM deposits on skin nerves in anti-myelin-associated glycoprotein neuropathy

1 reference

12 December 2020

Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B

1 reference

12 December 2020

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWP113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19447823%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference