|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
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
|
|
0.820 |
CausalMutation
|
CLINVAR |
R98C mice, an authentic model of early onset Charcot-Marie-Tooth disease type 1B, develop neuropathy in part because the misfolded mutant myelin protein zero is retained in the endoplasmic reticulum where it activates the unfolded protein response.
|
23250879 |
2012 |
|
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 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
CausalMutation
|
CLINVAR |
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.
|
20461396 |
2010 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.
|
20461396 |
2010 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
CausalMutation
|
CLINVAR |
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 |
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
|
11438991 |
2001 |
|
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 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
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
|
|
0.820 |
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 |
CausalMutation
|
CLINVAR |
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
|
19293842 |
2009 |
|
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 |
|
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 |
|
Neuropathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.
|
23250879 |
2012 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
CausalMutation
|
CLINVAR |
De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
|
9168174 |
1997 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
BEFREE |
De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
|
9168174 |
1997 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
|
9168174 |
1997 |
|
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 |
|
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 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
CausalMutation
|
CLINVAR |
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
|
|
0.820 |
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
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
|
18337304 |
2008 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
|
10965800 |
2000 |