Animal models for inherited peripheral neuropathies. (Q41674427)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9418989%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

review article

1 reference

title

Animal models for inherited peripheral neuropathies (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9418989%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9418989%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

Martini R

series ordinal

1

1 reference

6 October 2017

publication date

1 October 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9418989%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

number of pages

16

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inferred from page(s)

published in

Journal of Anatomy

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8 November 2019

volume

191 ( Pt 3)

1 reference

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8 November 2019

page(s)

321-336

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9418989%20AND%20SRC:MED&resulttype=core&format=json

Molecular bases of myelin formation as revealed by investigations on mice deficient in glial cell surface molecules

8 November 2019

cites work

1 reference

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Recombinant adeno-associated virus for muscle directed gene therapy

29 August 2018

1 reference

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Connexins, gap junctions and cell-cell signalling in the nervous system

29 August 2018

1 reference

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Molecular genetics of demyelination: new wrinkles on an old membrane

29 August 2018

1 reference

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The pathology of charcot-marie-tooth disease and related disorders

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Charcot-Marie-Tooth disease and related inherited neuropathies

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain

29 August 2018

1 reference

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Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease

29 August 2018

1 reference

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Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects

29 August 2018

1 reference

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Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

New functions for gap junctions

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Connexin mutations in X-linked Charcot-Marie-Tooth disease

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Novel E-cadherin-mediated adhesion in peripheral nerve: Schwann cell architecture is stabilized by autotypic adherens junctions

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Biology and Genetics of Hereditary Motor and Sensory Neuropathies

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

The cytoplasmic domain of myelin glycoprotein P0 interacts with negatively charged phospholipid bilayers

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Hereditary neuropathy with liability to pressure palsies. Report of two families and review of the literature

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Unwrapping the genes of myelin

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

X-linked dominant hereditary motor and sensory neuropathy

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Distribution of P0 protein and the myelin-associated glycoprotein in peripheral nerves from Trembler mice

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Recombinant peripheral myelin protein Po confers both adhesion and neurite outgrowth-promoting properties

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Hereditary pressure-sensitive neuropathy: demonstration of “tomacula” in motor nerve fibers

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Role of myelin Po protein as a homophilic adhesion molecule

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction.

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Trembler mouse carries a point mutation in a myelin gene

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Selective culture of mitotically active human Schwann cells from adult sural nerves

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Autosomal recessive form of hereditary motor and sensory neuropathy type I.

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Abnormal myelination in transplanted Trembler mouse Schwann cells

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

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

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1467690

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

2 December 2018

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

Homozygous hypertrophic hereditary motor and sensory neuropathies

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

Mutations in demyelinating peripheral neuropathies support molecular model of myelin P0-glycoprotein extracellular domain

1 reference

12 December 2020

The influence of heregulins on human Schwann cell proliferation

1 reference

12 December 2020

Crucial role for the myelin-associated glycoprotein in the maintenance of axon-myelin integrity

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

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

1 reference

12 December 2020

Connexin32 is a myelin-related protein in the PNS and CNS

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

Deletions of chromosome 17p11.2 in multifocal neuropathies

1 reference

12 December 2020

A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease

1 reference

12 December 2020

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

12 December 2020

Absence of the myelin-associated glycoprotein (MAG) and the neural cell adhesion molecule (N-CAM) interferes with the maintenance, but not with the formation of peripheral myelin

1 reference

12 December 2020

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene

1 reference

12 December 2020

Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy

1 reference

12 December 2020

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

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

A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32

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

Compact myelin exists in the absence of basic protein in the shiverer mutant mouse

1 reference

12 December 2020

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

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

Schwann cell proliferation during postnatal development, Wallerian degeneration and axon regeneration in trembler dysmyelinating mutant

1 reference

12 December 2020

Uncompacted lamellae as a feature of tomaculous neuropathy

1 reference

12 December 2020

HMSN III phenotype due to homozygous expression of a dominant HMSN II gene

1 reference

12 December 2020

10.1046/J.1469-7580.1997.19130321.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9418989%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PMC publication ID

1467690

0 references

1 reference