Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
|
27234031 |
2017 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Update on Leukodystrophies: A Historical Perspective and Adapted Definition.
|
27564080 |
2016 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In this review, the authors focus on the origin and classification of CMTX, the central nervous system manifestations of CMTX1, the possible mechanism by which GJB1 mutations cause CMT1X, and the emerging therapeutic strategies for CMTX.
|
26385972 |
2016 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
|
15468313 |
2005 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Severe neuropathy with leaky connexin32 hemichannels.
|
15852376 |
2005 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
|
15241803 |
2004 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.
|
14627639 |
2003 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
|
12707076 |
2003 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
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, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
|
12497641 |
2003 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy.
|
12325071 |
2002 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
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, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
|
12207932 |
2002 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.
|
12536289 |
2002 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We recently showed that Cx32 containing the CMTX-associated mutation, Ser-85-Cys (S85C), forms functional cell-cell channels in paired Xenopus oocytes.
|
11891346 |
2002 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
This report describes six British CMTX families with six novel mutations (four missense, one nonsense, and one frame shift) of the GJB1 gene.
|
12185164 |
2002 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
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, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
X-linked dominant Charcot-Marie-Tooth (CMTX) disease is a motor and sensory neuropathy caused by mutations in the connexin 32 (CX32) gene.
|
11571214 |
2001 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.
|
11723288 |
2001 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
|
11180613 |
2001 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
|
11562788 |
2001 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
|
10923043 |
2000 |