Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
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An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1AAscorbic acid for the treatment of Charcot-Marie-Tooth diseaseDeletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1BMutations 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) geneStructural variation mutagenesis of the human genome: Impact on disease and evolution.SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutationsHereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneComputational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1AAfferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies.Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritanceIntroduction to the Third International Symposium on Charcot-Marie-Tooth disorders.Overview of Charcot-Marie-Tooth disease type 1A.Overview of hereditary neuropathy with liability to pressure palsies.The "CMT rat": peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22.Human nerve pathology caused by different mutational mechanisms of the PMP22 gene.Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.Genetic spectrum of hereditary neuropathies with onset in the first year of lifeThe LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseasesFacioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.Copy number variations in a population-based study of Charcot-Marie-Tooth diseaseMolecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A PatientsCorneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients.Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patientsNeuropathology of Charcot-Marie-Tooth and related disorders.Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.Role of immune cells in animal models for inherited peripheral neuropathies.Animal models of Charcot-Marie-Tooth disease type 1A.Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?Anterior tibialis CMAP amplitude correlations with impairment in CMT1A.Phenotypic variability and genetic susceptibility to genomic disordersThe aqueous layers within the myelin sheath modulate the membrane properties of simulated hereditary demyelinating neuropathies.New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.
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P2860
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
description
im Januar 1991 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 January 1991
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 1991
@uk
name
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
@en
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a
@nl
type
label
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
@en
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a
@nl
prefLabel
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
@en
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a
@nl
P2093
P1476
Duplication in chromosome 17p1 ...... N Collaborative Research Group
@en
P2093
Bolhuis PA
De Jonghe P
De Visser M
Hoogendijk JE
Raeymaekers P
Timmerman V
P356
10.1016/0960-8966(91)90055-W
P50
P577
1991-01-01T00:00:00Z