|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.
|
12090401 |
2002 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
|
11438991 |
2001 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.
|
10663978 |
2000 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
|
10211478 |
1999 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible ""hot spot"" on Ser72."
|
9585367 |
1998 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.
|
9544841 |
1998 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
|
9452053 |
1998 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
|
9055797 |
1997 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
9187667 |
1997 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.
|
8995589 |
1997 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
|
9004143 |
1996 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
|
7728152 |
1995 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.
|
7675244 |
1995 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
|
8252046 |
1993 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
|
8275092 |
1993 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Charcot-Marie-Tooth Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we studied the quality control mechanisms for the PMP22 mutants L16P and G150D, which were originally identified in mice and patients with CMT.
|
25385046 |
2014 |
|
Neuropathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
In Trembler mouse a Gly150Asp amino acid exchange in the peripheral myelin protein 22kDa (PMP22) gene was identified as causative reason for this hypertrophic neuropathy.
|
10959245 |
1998 |