(Q80839426)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

main subject

Early growth response 2

1 reference

positive regulation of transcription by RNA polymerase II

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

13

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

7

Pedro Mancias

1 reference

3 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

Gulam Mustafa Saifi

3

object named as

Gulam Mustafa Saifi

1 reference

3 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

author name string

Kinga Szigeti

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Wojciech Wiszniewski

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Diane L Sherman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Norbert Sule

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Adekunle M Adesina

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Sozos Ch Papasozomenos

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Geoffrey Miller

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Laura Keppen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Donna Daentl

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Peter J Brophy

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

publication date

24 August 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

page(s)

257-262

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10048-007-0094-0

3 January 2020

exact match

0 references

cites work

Novel mutants of NAB corepressors enhance activation by Egr transactivators

1 reference

12 December 2020

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

1 reference

12 December 2020

Krox-20 controls myelination in the peripheral nervous system

1 reference

12 December 2020

Mechanisms of axon ensheathment and myelin growth

1 reference

12 December 2020

Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain

1 reference

12 December 2020

Screening of the early growth response 2 gene in Japanese patients with Charcot–Marie–Tooth disease type 1

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination

1 reference

12 December 2020

Peripheral Myelin Maintenance Is a Dynamic Process Requiring Constant Krox20 Expression

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis

1 reference

12 December 2020

Nab proteins are essential for peripheral nervous system myelination

1 reference

12 December 2020

Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells

1 reference

12 December 2020

Nab proteins mediate a negative feedback loop controlling Krox-20 activity in the developing hindbrain

1 reference

12 December 2020

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management

1 reference

12 December 2020

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

1 reference

12 December 2020

A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.

1 reference

12 December 2020

Segmental and neuronal architecture of the hindbrain of Krox-20 mouse mutants.

1 reference

12 December 2020

Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies

1 reference

12 December 2020

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

1 reference

12 December 2020

10.1007/S10048-007-0094-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17717711%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference