Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
about
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouseTracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteinsCFTR-deficient pigs display peripheral nervous system defects at birth.Auditory nerve is affected in one of two different point mutations of the neurofilament light gene.Gene expression associated with the onset of hearing detected by differential display in rat organ of CortiTwo novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome.Charcot-Marie-Tooth disease type 2.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.Understanding Schwann cell-neurone interactions: the key to Charcot-Marie-Tooth disease?Dominantly inherited peripheral neuropathies.An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Mutation in Mpzl3, a novel [corrected] gene encoding a predicted [corrected] adhesion protein, in the rough coat (rc) mice with severe skin and hair abnormalities.Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview.Charcot-Marie-Tooth disease and pathways to molecular based therapies.Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.Towards a functional pathology of hereditary neuropathies.Perceptual consequences of disrupted auditory nerve activity.Novel MPZ mutations and congenital hypomyelinating neuropathyPatients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.Nerve conduction abnormalities in aging mice deficient for myelin-associated glycoprotein.Antibodies to myelin protein zero (P0) protein as markers of auto-immune inner ear diseases.Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families
P2860
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P2860
Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Axonal phenotype of Charcot-Ma ...... n the myelin protein zero gene
@ast
Axonal phenotype of Charcot-Ma ...... n the myelin protein zero gene
@en
type
label
Axonal phenotype of Charcot-Ma ...... n the myelin protein zero gene
@ast
Axonal phenotype of Charcot-Ma ...... n the myelin protein zero gene
@en
prefLabel
Axonal phenotype of Charcot-Ma ...... n the myelin protein zero gene
@ast
Axonal phenotype of Charcot-Ma ...... n the myelin protein zero gene
@en
P2093
P356
P1476
Axonal phenotype of Charcot-Ma ...... n the myelin protein zero gene
@en
P2093
Diraison P
Schaeffer S
Vandenberghe A
P304
P356
10.1136/JNNP.66.6.779
P407
P577
1999-06-01T00:00:00Z