Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene
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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathiesDejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) geneA new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt diseaseMyelin protein zero gene mutated in Charcot-Marie-tooth type 1B patientsMapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathiesAutosomal dominant familial spastic paraplegia: tight linkage to chromosome 15qAnalyses of the differentiation potential of satellite cells from myoD-/-, mdx, and PMP22 C22 mice.Structural variation mutagenesis of the human genome: Impact on disease and evolution.Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutationRetroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growthAnalysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked diseaseWhole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1AA unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.Charcot-Marie-Tooth disease: lessons in genetic mechanisms.Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descentMutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.Investigation of peripheral neuropathyThe anatomy and cell biology of peripheral myelin protein-22.The "CMT rat": peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22.Trembler as a mouse model of CMT1A?Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.The Roussy-Lévy family: from the original description to the gene.Molecular anatomy and genetics of myelin proteins in the peripheral nervous systemElectrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Chromosomal duplications in bacteria, fruit flies, and humansDejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies.Characterization of mutations affecting the Escherichia coli essential GTPase era that suppress two temperature-sensitive dnaG alleles.A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCRExome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyKCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
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Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene
description
article
@en
im Juli 1993 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в липні 1993
@uk
name
Charcot-Marie-Tooth Disease Ty ...... int Mutation in the PMP22 Gene
@en
Charcot-Marie-Tooth Disease Ty ...... int Mutation in the PMP22 Gene
@nl
type
label
Charcot-Marie-Tooth Disease Ty ...... int Mutation in the PMP22 Gene
@en
Charcot-Marie-Tooth Disease Ty ...... int Mutation in the PMP22 Gene
@nl
prefLabel
Charcot-Marie-Tooth Disease Ty ...... int Mutation in the PMP22 Gene
@en
Charcot-Marie-Tooth Disease Ty ...... int Mutation in the PMP22 Gene
@nl
P2093
P1476
Charcot-Marie-Tooth disease ty ...... int mutation in the PMP22 gene
@en
P2093
Shooter EM
Welcher AA
P304
P356
10.1056/NEJM199307083290205
P407
P577
1993-07-01T00:00:00Z