A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
about
Nuclear export of L-periaxin, mediated by its nuclear export signal in the PDZ domainMutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucomaMutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathiesMutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HCharcot-Marie-Tooth disease and intracellular trafficAbsence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.Periaxin and AHNAK Nucleoprotein 2 Form Intertwined Homodimers through Domain SwappingSequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy.Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis.A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segmentsPeriaxin mutations cause a broad spectrum of demyelinating neuropathies.Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes.Copy number variation upstream of PMP22 in Charcot-Marie-Tooth diseaseThe function of the Periaxin gene during nerve repair in a model of CMT4F.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 Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.Periaxin is required for hexagonal geometry and membrane organization of mature lens fibersTwo novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.Autosomal-recessive Charcot-Marie-Tooth diseases.The use of whole-exome sequencing to disentangle complex phenotypesMolecular genetics of charcot-marie-tooth disease: from genes to genomes.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Neuropathology of Charcot-Marie-Tooth and related disorders.Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Inherited peripheral neuropathies.Intermolecular disulfide bond in the dimerization of S-periaxin mediated by Cys88 and Cys139Optimal myelin elongation relies on YAP activation by axonal growth and inhibition by Crb3/Hippo pathway.Charcot-marie-tooth disease: seventeen causative genes.Biological role of dystroglycan in Schwann cell function and its implications in peripheral nervous system diseases.Demyelinating prenatal and infantile developmental neuropathies.Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Autoimmune antigenic targets at the node of Ranvier in demyelinating disorders.
P2860
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P2860
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A mutation in periaxin is resp ...... f Charcot-Marie-Tooth disease.
@ast
A mutation in periaxin is resp ...... f Charcot-Marie-Tooth disease.
@en
type
label
A mutation in periaxin is resp ...... f Charcot-Marie-Tooth disease.
@ast
A mutation in periaxin is resp ...... f Charcot-Marie-Tooth disease.
@en
prefLabel
A mutation in periaxin is resp ...... f Charcot-Marie-Tooth disease.
@ast
A mutation in periaxin is resp ...... f Charcot-Marie-Tooth disease.
@en
P2093
P356
P1476
A mutation in periaxin is resp ...... f Charcot-Marie-Tooth disease.
@en
P2093
Claustres M
Mégarbané A
Sherman DL
P304
P356
10.1093/HMG/10.4.415
P577
2001-02-01T00:00:00Z