Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.
about
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous systemEvidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.Classification and diagnosis of the inherited neuropathies.Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.Autosomal-recessive Charcot-Marie-Tooth diseases.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.Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Update on Charcot-Marie-Tooth disease.Nerve biopsy: requirements for diagnosis and clinical value.Demyelinating prenatal and infantile developmental neuropathies.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.Towards a functional pathology of hereditary neuropathies.The autosomal recessive form of CMT disease linked to 5q31-q33.Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4CScreening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).PMP22 expression in dermal nerve myelin from patients with CMT1A.Charcot-Marie-Tooth disease type 4C in Japan: report of a case.Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.The autosomal recessive form of CMT disease linked to 5q31-q33.Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
P2860
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P2860
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.
description
1999 nî lūn-bûn
@nan
1999 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մայիսին 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
Study on the gene and phenotyp ...... locus on chromosome 5q23-q33.
@ast
Study on the gene and phenotyp ...... locus on chromosome 5q23-q33.
@en
type
label
Study on the gene and phenotyp ...... locus on chromosome 5q23-q33.
@ast
Study on the gene and phenotyp ...... locus on chromosome 5q23-q33.
@en
prefLabel
Study on the gene and phenotyp ...... locus on chromosome 5q23-q33.
@ast
Study on the gene and phenotyp ...... locus on chromosome 5q23-q33.
@en
P2093
P2860
P356
P1476
Study on the gene and phenotyp ...... locus on chromosome 5q23-q33.
@en
P2093
Gabreëls F
Gabreëls-Festen A
van Beersum S
van Engelen B
P2860
P304
P356
10.1136/JNNP.66.5.569
P407
P577
1999-05-01T00:00:00Z