X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
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Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth diseaseA compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth diseaseDominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1.Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis.Introduction to the Third International Symposium on Charcot-Marie-Tooth disorders.Connexin32 in the peripheral nervous system. Functional analysis of mutations associated with X-linked Charcot-Marie-Tooth syndrome and implications for the pathophysiology of the disease.Dynamic transcriptional events in distal sural nerve revealed by transcriptome analysis.Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal.Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.Glia modulation of the extracellular milieu as a factor in central CO2 chemosensitivity and respiratory control.Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathyLocalization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth NeuropathyHow do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular genetics of X-linked Charcot-Marie-Tooth disease.Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese PatientsX-linked Charcot-Marie-Tooth disease.Clinical and biophysical characterization of 19 GJB1 mutations.Charcot-marie-tooth disease: seventeen causative genes.Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.Pes cavus and hereditary neuropathies: when a relationship should be suspected.Demyelinating prenatal and infantile developmental neuropathies.Intermediate Charcot-Marie-Tooth disease.GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).Towards a functional pathology of hereditary neuropathies.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings.Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.Effects of exercise and creatine on myosin heavy chain isoform composition in patients with Charcot-Marie-Tooth disease.X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.-459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy.CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.
P2860
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P2860
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
X-linked Charcot-Marie-Tooth d ...... and electrophysiologic study.
@en
X-linked Charcot-Marie-Tooth d ...... and electrophysiologic study.
@nl
type
label
X-linked Charcot-Marie-Tooth d ...... and electrophysiologic study.
@en
X-linked Charcot-Marie-Tooth d ...... and electrophysiologic study.
@nl
prefLabel
X-linked Charcot-Marie-Tooth d ...... and electrophysiologic study.
@en
X-linked Charcot-Marie-Tooth d ...... and electrophysiologic study.
@nl
P2093
P356
P1433
P1476
X-linked Charcot-Marie-Tooth d ...... and electrophysiologic study.
@en
P2093
Gugenheim M
Maisonobe T
P304
P356
10.1212/WNL.50.4.1074
P407
P50
P577
1998-04-01T00:00:00Z