(Q34316615)

1 August 2017

1 reference

title

The PMP22 gene and its related diseases (English)

1 reference

1 August 2017

Jun Li

1

1 reference

1 August 2017

Brett Parker

2

1 reference

1 August 2017

Colin Martyn

3

1 reference

1 August 2017

Chandramohan Natarajan

4

1 reference

1 August 2017

Jiasong Guo

5

1 reference

1 August 2017

publication date

7 December 2012

1 reference

1 August 2017

published in

Molecular Neurobiology

1 reference

1 August 2017

volume

47

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1 August 2017

issue

2

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1 August 2017

page(s)

673-698

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An essential role of MAG in mediating axon-myelin attachment in Charcot-Marie-Tooth 1A disease

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Myelinating and demyelinating phenotype of Trembler-J mouse (a model of Charcot-Marie-Tooth human disease) analyzed by atomic force microscopy and confocal microscopy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Neuropathy in a human without the PMP22 gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Gpr126 is essential for peripheral nerve development and myelination in mammals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Regulation of the PMP22 gene through an intronic enhancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Update on Charcot-Marie-Tooth disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Locus-wide identification of Egr2/Krox20 regulatory targets in myelin genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Rapamycin activates autophagy and improves myelination in explant cultures from neuropathic mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Charcot-Marie-Tooth Neuropathy Type 1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Conduction block in PMP22 deficiency.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Activation of Krox20 gene expression by Sox10 in myelinating Schwann cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

A G protein-coupled receptor is essential for Schwann cells to initiate myelination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

P2X7-mediated increased intracellular calcium causes functional derangement in Schwann cells from rats with CMT1A neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Varying survival of motoneurons and activation of distinct molecular mechanism in response to altered peripheral myelin protein 22 gene dosage.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

PMP22 expression in dermal nerve myelin from patients with CMT1A.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Intermittent fasting alleviates the neuropathic phenotype in a mouse model of Charcot-Marie-Tooth disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Ascorbic acid is a regulator of the intracellular cAMP concentration: old molecule, new functions?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

The peripheral neuropathy-linked Trembler and Trembler-J mutant forms of peripheral myelin protein 22 are folding-destabilized

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Interactions of Sox10 and Egr2 in myelin gene regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Purification and initiation of structural characterization of human peripheral myelin protein 22, an integral membrane protein linked to peripheral neuropathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Siva is an apoptosis-selective p53 target gene important for neuronal cell death

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Neuropathy-Associated Egr2 Mutants Disrupt Cooperative Activation of Myelin Protein Zero by Egr2 and Sox10

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Ascorbic acid inhibits PMP22 expression by reducing cAMP levels.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Rapid Conduction and the Evolution of Giant Axons and Myelinated Fibers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

The zinc containing pro-apoptotic protein siva interacts with the peroxisomal membrane protein pmp22

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Direct regulation of myelin protein zero expression by the Egr2 transactivator

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Regulation of cholesterol/lipid biosynthetic genes by Egr2/Krox20 during peripheral nerve myelination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Analyses of the differentiation potential of satellite cells from myoD-/-, mdx, and PMP22 C22 mice.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-tooth 1A Gas3/PMP22 mutants

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Perp is a mediator of p53-dependent apoptosis in diverse cell types

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Polarized domains of myelinated axons.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Novel genes regulated by Sonic Hedgehog in pluripotent mesenchymal cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Peripheral myelin protein 22 is a constituent of intercellular junctions in epithelia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Exposure at the cell surface is required for gas3/PMP22 To regulate both cell death and cell spreading: implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Molecular dissection of the Schwann cell specific promoter of the PMP22 gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

PERP, an apoptosis-associated target of p53, is a novel member of the PMP-22/gas3 family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

The peripheral myelin protein 22 and epithelial membrane protein family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Hereditary recurrent focal neuropathies: clinical and molecular features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

On the molecular architecture of myelinated fibers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Human nerve pathology caused by different mutational mechanisms of the PMP22 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Rho-dependent regulation of cell spreading by the tetraspan membrane protein Gas3/PMP22.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Krox-20 controls SCIP expression, cell cycle exit and susceptibility to apoptosis in developing myelinating Schwann cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Purification of PASII/PMP22--an extremely hydrophobic glycoprotein of PNS myelin membrane

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Fate of Schwann cells in CMT1A and HNPP: evidence for apoptosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

An in-frame deletion in peripheral myelin protein-22 gene causes hypomyelination and cell death of the Schwann cells in the new Trembler mutant mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

cDNA cloning, genomic structure, and chromosome mapping of the human epithelial membrane protein CL-20 gene (EMP1), a member of the PMP22 family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

The phenotypic manifestations of chromosome 17p11.2 duplication

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Influence of elevated expression of rat wild-type PMP22 and its mutant PMP22Trembler on cell growth of NIH3T3 fibroblasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Identification and characterization of a cDNA and the structural gene encoding the mouse epithelial membrane protein-1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

SR13/PMP-22 expression in rat nervous system, in PC12 cells, and C6 glial cell lines.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Differential expression of two mRNA species indicates a dual function of peripheral myelin protein PMP22 in cell growth and myelination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Genetic basis of inherited peripheral neuropathies.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Epithelial membrane protein-1, peripheral myelin protein 22, and lens membrane protein 20 define a novel gene family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Genes specifically expressed at growth arrest of mammalian cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Peripheral demyelination and remyelination initiated by the calcium-selective ionophore ionomycin: in vivo observations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Movements of the Schwann cell nucleus implicate progression of the inner (axon-related) Schwann cell process during myelination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Cultured Schwann cells assemble normal-appearing basal lamina only when they ensheathe axons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Axon-regulated expression of a Schwann cell transcript that is homologous to a 'growth arrest-specific' gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

A growth arrest-specific (gas) gene codes for a membrane protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Trembler mouse carries a point mutation in a myelin gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Isolation of transcriptionally regulated sequences associated with neuronal and non-neuronal cell interactions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Conduction velocity and spike configuration in myelinated fibres: computed dependence on internode distance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Overcoming conduction failure in demyelinated nerve fibres by prolonging action potentials

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Hereditary hypertrophic neuropathy in the trembler mouse. Part 2. Histopathological studies: electron microscopy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Hereditary hypertrophic neuropathy in the trembler mouse. Part 1. Histopathological studies: light microscopy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Recent progress on the molecular organization of myelinated axons

28 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Peripheral myelin protein 22 is expressed in human central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

The temporospatial expression of peripheral myelin protein 22 at the developing blood-nerve and blood-brain barriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Peripheral myelin protein-22 is expressed in rat and mouse brain and spinal cord motoneurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Embryonic expression of epithelial membrane protein 1 in early neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Rafts in adult peripheral nerve myelin contain major structural myelin proteins and myelin and lymphocyte protein (MAL) and CD59 as specific markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Towards crystallization of hydrophobic myelin glycoproteins: P0 and PASII/PMP22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

An 8.5-kb segment of the PMP22 promoter responds to loss of axon signals during Wallerian degeneration, but does not respond to specific axonal signals during nerve regeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Neural crest patterning: autoregulatory and crest-specific elements co-operate for Krox20 transcriptional control.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Krox-20 controls myelination in the peripheral nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Post-transcriptional regulation of the peripheral myelin protein gene PMP22/gas3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Role of the peripheral myelin protein 22 N-linked glycan in oligomer stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Studies on the effects of altered PMP22 expression during myelination in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Development of early postnatal peripheral nerve abnormalities in Trembler-J and PMP22 transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Perp is required for tissue-specific cell survival during zebrafish development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Cholesterol regulates the endoplasmic reticulum exit of the major membrane protein P0 required for peripheral myelin compaction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Early paranodal myelin swellings (tomacula) in an avian riboflavin deficiency model of demyelinating neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

PMP22 overexpression causes dysmyelination in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Enhancement of Schwann cell myelin formation by K252a in the Trembler-J mouse dorsal root ganglion explant culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

High cholesterol level is essential for myelin membrane growth

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Emerging role for autophagy in the removal of aggresomes in Schwann cells.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Progesterone derivatives are able to influence peripheral myelin protein 22 and P0 gene expression: possible mechanisms of action.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Neurons promote the translocation of peripheral myelin protein 22 into myelin

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

Regulation and expression of the murine Pmp22 gene

28 October 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Myelin and Axon Pathology in a Long-Term Study ofPMP22-Overexpressing Mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Characterisation of cis-acting sequences reveals a biphasic, axon-dependent regulation of Krox20 during Schwann cell development

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594637

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

28 October 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-012-8370-X

Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72

21 January 2018

1 reference

12 December 2020

Continuous conduction in demyelinated mammalian nerve fibers

1 reference

12 December 2020

Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons

1 reference

12 December 2020

Variable phenotypes are associated with PMP22 missense mutations

1 reference

12 December 2020

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies

1 reference

12 December 2020

Purification and partial characterization of two glycoproteins in bovine peripheral nerve myelin membrane

1 reference

12 December 2020

Correlation between weakness and axonal loss in patients with CMT1A

1 reference

12 December 2020

Uncoupling of myelin assembly and schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22

1 reference

12 December 2020

Evidence for impaired axonal regeneration in PMP22 duplication: studies in nerve xenografts

1 reference

12 December 2020

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A

1 reference

12 December 2020

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

12 December 2020

Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies

1 reference

12 December 2020

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

1 reference

12 December 2020

Regulation of Schwann cell numbers in tellurium-induced neuropathy: apoptosis, supernumerary cells and internodal shortening

1 reference

12 December 2020

Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy

1 reference

12 December 2020

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

1 reference

12 December 2020

F-actin distribution at nodes of Ranvier and Schmidt-Lanterman incisures in mammalian sciatic nerves

1 reference

12 December 2020

HEREDITARY NEUROPATHY, WITH LIABILITY TO PRESSURE PALSIES; A CLINICAL AND ELECTROPHYSIOLOGICAL STUDY OF FOUR FAMILIES

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

Internodal conduction in normal and demyelinated mammalian single nerve fibres

1 reference

12 December 2020

Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice

1 reference

12 December 2020

Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression

1 reference

12 December 2020

Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage

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

Charcot-Marie-Tooth disease

1 reference

12 December 2020

Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

1 reference

12 December 2020

Report of a novel mutation in the PMP22 gene causing an axonal neuropathy

1 reference

12 December 2020

Solubilization of PNS myelin membrane proteins by detergents

1 reference

12 December 2020

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

12 December 2020

Experimental Charcot–Marie–Tooth type 1A: A cDNA microarrays analysis

1 reference

12 December 2020

Improved culture methods to expand Schwann cells with altered growth behaviour from CMT1A patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies

1 reference

12 December 2020

Effects of PMP22 duplication and deletions on the axonal cytoskeleton

1 reference

12 December 2020

Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination

1 reference

12 December 2020

Recessive, but not dominant, mutations in peripheral myelin protein 22 gene show unique patterns of aggregation and intracellular trafficking.

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

The effects of 4‐aminopyridine and tetraethylammonium ions on normal and demyelinated mammalian nerve fibres

1 reference

12 December 2020

Schwann cell multiplication in Trembler mice

1 reference

12 December 2020

Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2.

1 reference

12 December 2020

DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations

1 reference

12 December 2020

HNPP due to a novel missense mutation of the PMP22 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Electrically active axons degenerate when exposed to nitric oxide

1 reference

12 December 2020

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

1 reference

12 December 2020

Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate adhesion epitope

1 reference

12 December 2020

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

1 reference

12 December 2020

Membrane topology of peripheral myelin protein 22

1 reference

12 December 2020

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

1 reference

12 December 2020

Tomacula in MAG-deficient mice

1 reference

12 December 2020

The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies

1 reference

12 December 2020

Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs

1 reference

12 December 2020

PMP-22 expression in the central nervous system of the embryonic mouse defines potential transverse segments and longitudinal columns

1 reference

12 December 2020

Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy

1 reference

12 December 2020

Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion

1 reference

12 December 2020

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders

1 reference

12 December 2020

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1 reference

12 December 2020

Abnormal Schwann cell/axon interactions in the Trembler-J mouse

1 reference

12 December 2020

10.1007/S12035-012-8370-X

Identifiers

DOI

1 reference

Dimensions Publication ID

1 August 2017

1050767463

0 references

Fatcat ID

release_khdtgj7wtjbnzhpa6mmqzkhcyu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/khdtgj7wtjbnzhpa6mmqzkhcyu

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3594637

1 reference

1 August 2017

1 reference