|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.
|
18422810 |
2008 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
|
18337304 |
2008 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.
|
16488608 |
2006 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
|
12497641 |
2003 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
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.
|
12477701 |
2003 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
|
12207932 |
2002 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
|
12402337 |
2002 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
|
11437164 |
2001 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
BEFREE |
The report adds Ser49Leu to the mutations of P0ex associated with focally folded myelin and provides strong evidence that such a structural alteration of the myelin sheath reflects a distinct pathogenetic mechanism in a subgroup of CMT1B.
|
10965800 |
2000 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
|
10737979 |
2000 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The report adds Ser49Leu to the mutations of P0ex associated with focally folded myelin and provides strong evidence that such a structural alteration of the myelin sheath reflects a distinct pathogenetic mechanism in a subgroup of CMT1B.
|
10965800 |
2000 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
The report adds Ser49Leu to the mutations of P0ex associated with focally folded myelin and provides strong evidence that such a structural alteration of the myelin sheath reflects a distinct pathogenetic mechanism in a subgroup of CMT1B.
|
10965800 |
2000 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.
|
10545037 |
1999 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
|
9452091 |
1998 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands.
|
10093067 |
1998 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
|
9452099 |
1998 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
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 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
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 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B.
|
9217235 |
1997 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
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
|
|
0.810 |
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
|
|
0.810 |
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
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
|
7530774 |
1994 |