(Q53620430)

English

Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

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scholarly article

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. (English)

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

author name string

K W Chung

1

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

I N Sunwoo

2

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

S M Kim

3

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

K D Park

4

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

W-K Kim

5

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

T S Kim

6

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

H Koo

7

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

M Cho

8

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

J Lee

9

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

B O Choi

10

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

publication date

28 September 2005

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

6

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

159-163

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Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

3

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Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

https://scigraph.springernature.com/pub.10.1007/s10048-005-0217-4

0 references

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-005-0217-4

21 January 2018

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Krox-20 controls myelination in the peripheral nervous system

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

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/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gap junctions: structure and function (Review).

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disease mechanisms in inherited neuropathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary motor and sensory neuropathies: a biological perspective

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered gene expression in Schwann cells of connexin32 knockout animals.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15947997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-005-0217-4

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

1 reference

Europe PubMed Central

16 May 2018

http://europepmc.org/abstract/MED/15947997

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