|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
Biomarker
|
disease |
CTD_human |
Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.
|
19427269 |
2009 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.
|
18592125 |
2008 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
Biomarker
|
disease |
MGD |
The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones.
|
17174099 |
2007 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
Biomarker
|
disease |
CTD_human |
Myoclonic seizures in a patient with Charcot-Marie-tooth disease.
|
17275665 |
2007 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
Biomarker
|
disease |
MGD |
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.
|
17701891 |
2007 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
Biomarker
|
disease |
CTD_human |
Ascorbic acid inhibits PMP22 expression by reducing cAMP levels.
|
17303424 |
2007 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
Biomarker
|
disease |
MGD |
Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model.
|
15748170 |
2005 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
Biomarker
|
disease |
MGD |
Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.
|
15703401 |
2005 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
Biomarker
|
disease |
MGD |
Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A?
|
15363066 |
2004 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.
|
9543325 |
1998 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
Biomarker
|
disease |
MGD |
Abnormal Schwann cell/axon interactions in the Trembler-J mouse.
|
9147228 |
1997 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|