Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
about
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseDominant GDAP1 mutations cause predominantly mild CMT phenotypesPeripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4Charcot-Marie-Tooth disease and intracellular trafficUnraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.Structural relationships between highly conserved elements and genes in vertebrate genomes.Classification and diagnosis of the inherited neuropathies.Deletion of PIK3C3/Vps34 in sensory neurons causes rapid neurodegeneration by disrupting the endosomal but not the autophagic pathwaySNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseExonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4DCharcot-Marie-Tooth disease subtypes and genetic testing strategiesStrategy for genetic testing in Charcot-Marie-disease.Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variabilityA locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Molecular mechanisms of inherited demyelinating neuropathies.Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4.Diagnosis of Charcot-Marie-Tooth disease.Inherited neuropathies: clinical overview and update.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Charcot-Marie-Tooth disease and pathways to molecular based therapies.A practical approach to the genetic neuropathies.Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients.Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
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P2860
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
description
2006 nî lūn-bûn
@nan
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
name
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
@ast
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
@en
type
label
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
@ast
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
@en
prefLabel
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
@ast
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
@en
P2093
P2860
P356
P1476
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
@en
P2093
Azzedine H
Bouhouche A
Durosier G
P2860
P2888
P356
10.1385/NMM:8:1-2:75
P577
2006-01-01T00:00:00Z
P6179
1038645391