Conduction block in PMP22 deficiency. (Q36912268)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071523%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Conduction block in PMP22 deficiency (English)

1 reference

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Peripheral myelin protein 22

16 January 2020

main subject

1 reference

Myelin-associated glycoprotein

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Istvan Katona

3

1 reference

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16 January 2020

Michael Shy

5

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16 January 2020

Lori L. Isom

7

1 reference

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16 January 2020

8

Ueli Suter

1 reference

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16 January 2020

author name string

Yunhong Bai

1

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16 January 2020

Xuebao Zhang

2

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16 January 2020

Mario Andre Saporta

4

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16 January 2020

Heather A O'Malley

6

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16 January 2020

Jun Li

9

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16 January 2020

language of work or name

English

0 references

publication date

1 January 2010

1 reference

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16 January 2020

published in

Journal of Neuroscience

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16 January 2020

volume

30

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16 January 2020

issue

2

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16 January 2020

page(s)

600-608

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Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

16 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=3676309

Rapid Conduction and the Evolution of Giant Axons and Myelinated Fibers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Axon branch removal at developing synapses by axosome shedding

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Physiology of conduction block in multifocal motor neuropathy and other demyelinating neuropathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Reduced sodium channel density, altered voltage dependence of inactivation, and increased susceptibility to seizures in mice lacking sodium channel beta 2-subunits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

A molecular basis for hereditary motor and sensory neuropathy disorders.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

The peripheral myelin protein 22 and epithelial membrane protein 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=3676309

Effects of cellular geometry on current flow during a propagated action potential

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Anatomical changes in peripheral nerves compressed by a pneumatic tourniquet

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Functional co-expression of the beta 1 and type IIA alpha subunits of sodium channels in a mammalian cell line

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Myelin-associated glycoprotein is a myelin signal that modulates the caliber of myelinated axons.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Proceeding: The site of conduction block in peripheral nerves compressed by a pneumatic tourniquet.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Axonal transport of the voltage-dependent Na+ channel protein identified by its tetrodotoxin binding site in rat sciatic nerves

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Neurotoxin binding to receptor sites associated with voltage-sensitive sodium channels in intact, lysed, and detergent-solubilized brain membranes

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Developmental abnormalities in the nerves of peripheral myelin protein 22-deficient mice

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Recent progress on the molecular organization of myelinated axons

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Contactin orchestrates assembly of the septate-like junctions at the paranode in myelinated peripheral nerve.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Conduction block in rat myelinated fibres following acute exposure to anti-galactocerebroside serum.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3676309

Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name

4 September 2018

1 reference

12 December 2020

Tomacula in MAG-deficient mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Altered expression of ion channel isoforms at the node of Ranvier in P0-deficient myelin mutants

1 reference

12 December 2020

Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy

1 reference

12 December 2020

Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes

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

Axonal neurofilaments control multiple fiber properties but do not influence structure or spacing of nodes of Ranvier

1 reference

12 December 2020

Uncompacted inner myelin lamellae in inherited tendency to pressure palsy

1 reference

12 December 2020

Axonal protective effects of the myelin-associated glycoprotein

1 reference

12 December 2020

Conduction block in clinical practice

1 reference

12 December 2020

Isolation of a cDNA clone coding for a putative second potassium channel indicates the existence of a gene family

1 reference

12 December 2020

Recurrent familial neuropathy due to liability to pressure palsies

1 reference

12 December 2020

Acute peripheral nerve compression in the baboon

1 reference

12 December 2020

Ultrathin longitudinal sections of single myelinated fibres for electron microscopy

1 reference

12 December 2020

Nature of the Nerve Lesion caused by a Pneumatic Tourniquet

1 reference

12 December 2020

Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin

1 reference

12 December 2020

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1 reference

12 December 2020

Cloning and expression of myelin-associated oligodendrocytic basic protein. A novel basic protein constituting the central nervous system myelin

1 reference

12 December 2020

Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy

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

The axonal membrane protein Caspr, a homologue of neurexin IV, is a component of the septate-like paranodal junctions that assemble during myelination

1 reference

12 December 2020

10.1523/JNEUROSCI.4264-09.2010

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071523%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071523%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

20071523

1 reference