|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
|
8797476 |
1996 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
CausalMutation
|
CLINVAR |
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
|
8797476 |
1996 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
CausalMutation
|
CLINVAR |
High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.
|
8644725 |
1996 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
CausalMutation
|
CLINVAR |
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
|
8816708 |
1996 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
|
8816708 |
1996 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.
|
8844219 |
1996 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
|
7530774 |
1994 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.
|
7504284 |
1993 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.
|
7505151 |
1993 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
|
7694726 |
1993 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
|
7693129 |
1993 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
GeneticVariation
|
BEFREE |
Nine P(0) mutants associated with CMT1 (P(0)S63F, R98H, R277S, and S233fs), DSS (P(0) I30T and R98C), and CMT2 (P(0)S44F, D75V, and T124M), were investigated.
|
20461396 |
2010 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
|
12497641 |
2003 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
GeneticVariation
|
UNIPROT |
The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.
|
11596785 |
2001 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
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)
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
|
9452091 |
1998 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
GeneticVariation
|
UNIPROT |
De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.
|
9452055 |
1998 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
|
9222756 |
1997 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
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)
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
|
8816708 |
1996 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
|
8630052 |
1996 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
GeneticVariation
|
UNIPROT |
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
|
7506095 |
1993 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
|
22689911 |
2012 |