(Q43233597)

English

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease

scientific article published in March 2012

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

16 November 2017

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease (English)

1 reference

Europe PubMed Central

16 November 2017

Nicholas W. Wood

4

1 reference

Europe PubMed Central

16 November 2017

author name string

Georgios Koutsis

1

1 reference

Europe PubMed Central

16 November 2017

Amelie Pandraud

2

1 reference

Europe PubMed Central

16 November 2017

James M Polke

3

1 reference

Europe PubMed Central

16 November 2017

Marios Panas

5

1 reference

Europe PubMed Central

16 November 2017

Georgia Karadima

6

1 reference

Europe PubMed Central

16 November 2017

Henry Houlden

7

1 reference

Europe PubMed Central

16 November 2017

language of work or name

0 references

publication date

1 March 2012

1 reference

Europe PubMed Central

16 November 2017

1 reference

Europe PubMed Central

16 November 2017

135

1 reference

Europe PubMed Central

16 November 2017

Pt 8

1 reference

Europe PubMed Central

16 November 2017

e217, 1-6; author reply e218, 1-2

1 reference

Europe PubMed Central

16 November 2017

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407418

25 May 2018

Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407418

25 May 2018

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407418

25 May 2018

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407418

15 August 2018

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407418

15 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407418

15 August 2018

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407418

15 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407418

15 August 2018

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407418

15 August 2018

Two families with novel PMP22 point mutations: genotype-phenotype correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22382358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable phenotypes are associated with PMP22 missense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22382358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/22382358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22382358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22382358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/22382358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22382358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/BRAIN/AWS034

1 reference

Europe PubMed Central

16 November 2017

release_pjortmyiv5h5dequvbxrex457i

1 reference

https://api.fatcat.wiki/v0/release/pjortmyiv5h5dequvbxrex457i

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

16 November 2017

1 reference

Europe PubMed Central

16 November 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q43233597&oldid=1984403595"