(Q35460098)

8 August 2017

title

Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation (English)

1 reference

8 August 2017

Donaghy M

1

1 reference

8 August 2017

Sisodiya SM

2

1 reference

8 August 2017

Kennett R

3

1 reference

8 August 2017

McDonald B

4

1 reference

8 August 2017

Haites N

5

1 reference

8 August 2017

Bell C

6

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 December 2000

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

8 August 2017

published in

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8 August 2017

volume

69

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8 August 2017

issue

6

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8 August 2017

page(s)

799-805

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Myelin protein zero and membrane adhesion.

8 August 2017

cites work

1 reference

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Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

12 July 2018

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Onion bulb cells in mice deficient for myelin genes share molecular properties with immature, differentiated non-myelinating, and denervated Schwann cells

12 July 2018

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[A family of hereditary motor and sensory neuropathy type I with a mutation (Arg98-->His) in myelin Po--report on a second Japanese family]

12 July 2018

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High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients

12 July 2018

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Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

12 July 2018

1 reference

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

12 July 2018

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Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

12 July 2018

1 reference

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

12 July 2018

1 reference

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Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B

12 July 2018

1 reference

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From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins

12 July 2018

1 reference

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Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

12 July 2018

1 reference

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Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype

12 July 2018

1 reference

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Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

12 July 2018

1 reference

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

12 July 2018

1 reference

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New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1

12 July 2018

1 reference

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

12 July 2018

1 reference

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Two cases of congenital hypomyelination neuropathy

12 July 2018

1 reference

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Chronic inflammatory demyelinating polyneuropathy in two siblings

12 July 2018

1 reference

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Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene

12 July 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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737181

Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737181

Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies

26 September 2018

1 reference

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Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

15 November 2018

1 reference

12 December 2020

Novel mutation of the myelin P0 gene in a CMT1B family

1 reference

12 December 2020

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

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

Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case

1 reference

12 December 2020

A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype

1 reference

12 December 2020

Accelerated demyelination of peripheral nerves in mice deficient in connexin 32 and protein zero

1 reference

12 December 2020

Acute inflammatory neuropathy in Charcot-Marie-Tooth disease

1 reference

12 December 2020

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings

1 reference

12 December 2020

Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease

1 reference

12 December 2020

Prednisone-responsive hereditary motor and sensory neuropathy

1 reference

12 December 2020

[A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene]

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

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy

1 reference

12 December 2020

A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

1 reference

12 December 2020

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

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

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

1 reference

12 December 2020

Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene

1 reference

12 December 2020

Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po

1 reference

12 December 2020

Mapping the adhesive domains of the myelin Po protein

1 reference

12 December 2020

A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis

1 reference

12 December 2020

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.69.6.799

1 reference

8 August 2017

1 reference

8 August 2017

1 reference