Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
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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.Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathiesUncovering quantitative protein interaction networks for mouse PDZ domains using protein microarraysMutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HCharcot-Marie-Tooth disease and intracellular trafficPDZ domains: structural modules for protein complex assemblyMotor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis.Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.Deciphering peripheral nerve myelination by using Schwann cell expression profiling.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.A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.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 fibersAutosomal-recessive Charcot-Marie-Tooth diseases.Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cellsThe use of whole-exome sequencing to disentangle complex phenotypesClinical 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.Biological role of dystroglycan in Schwann cell function and its implications in peripheral nervous system diseases.Demyelinating prenatal and infantile developmental neuropathies.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growthRecent progress on the molecular organization of myelinated axons.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.
P2860
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P2860
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
description
2000 nî lūn-bûn
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2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
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2000年论文
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name
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
@nl
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
@ast
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
@en
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
@en-gb
type
label
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
@nl
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
@ast
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
@en
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
@en-gb
prefLabel
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
@nl
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
@ast
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
@en
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
@en-gb
P2093
P2860
P3181
P356
P1476
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
@en
P2093
C A Garcia
C F Boerkoel
H Takashima
J R Lupski
L Rhee-Morris
P Stankiewicz
P2860
P304
P3181
P356
10.1086/318208
P407
P577
2000-12-15T00:00:00Z