De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
about
Ascorbic acid for the treatment of Charcot-Marie-Tooth diseaseTreatment for Charcot-Marie-Tooth diseasePeriaxin mutations cause recessive Dejerine-Sottas neuropathy.Functional Translational Readthrough: A Systems Biology PerspectiveDejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 geneP0 (protein zero) mutation S34C underlies instability of internodal myelin in S63C mice.Investigation of peripheral neuropathyCharcot-Marie-Tooth disease type 2.Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathySteroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Neuropathology of Charcot-Marie-Tooth and related disorders.Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Single-spanning transmembrane domains in cell growth and cell-cell interactions: More than meets the eye?Demyelinating prenatal and infantile developmental neuropathies.Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review.The pathology of charcot-marie-tooth disease and related disorders.Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood.Animal models for inherited peripheral neuropathies.Multiple regulatory elements control transcription of the peripheral myelin protein zero gene.Onion bulb cells in mice deficient for myelin genes share molecular properties with immature, differentiated non-myelinating, and denervated Schwann cells.Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice.Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models.A Functional and Neuropathological Testing Paradigm Reveals New Disability-Based Parameters and Histological Features for P0180-190-Induced Experimental Autoimmune Neuritis in C57BL/6 Mice.Myelin protein zero and membrane adhesion.Genetic epidemiology of Charcot-Marie-Tooth disease.Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian familiesClinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathiesDéjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene
P2860
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P2860
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
description
1993 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1993
@ast
im November 1993 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1993/11/01)
@sk
vědecký článek publikovaný v roce 1993
@cs
wetenschappelijk artikel (gepubliceerd op 1993/11/01)
@nl
наукова стаття, опублікована в листопаді 1993
@uk
name
De novo mutation of the myelin ...... d sensory neuropathy type III)
@ast
De novo mutation of the myelin ...... d sensory neuropathy type III)
@en
De novo mutation of the myelin ...... d sensory neuropathy type III)
@nl
type
label
De novo mutation of the myelin ...... d sensory neuropathy type III)
@ast
De novo mutation of the myelin ...... d sensory neuropathy type III)
@en
De novo mutation of the myelin ...... d sensory neuropathy type III)
@nl
prefLabel
De novo mutation of the myelin ...... d sensory neuropathy type III)
@ast
De novo mutation of the myelin ...... d sensory neuropathy type III)
@en
De novo mutation of the myelin ...... d sensory neuropathy type III)
@nl
P2093
P2860
P3181
P356
P1433
P1476
De novo mutation of the myelin ...... d sensory neuropathy type III)
@en
P2093
G. A. Nicholson
K. Hayasaka
R. A. Ouvrier
T. Takahashi
Y. Sawaishi
P2860
P2888
P304
P3181
P356
10.1038/NG1193-266
P407
P577
1993-11-01T00:00:00Z
P5875
P6179
1010987490