Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
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Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsMutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transportDominant GDAP1 mutations cause predominantly mild CMT phenotypesDominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic componentDysfunctions of neuronal and glial intermediate filaments in diseaseCharcot-Marie-Tooth disease and intracellular trafficCryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyThe G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variantsCbx4 maintains the epithelial lineage identity and cell proliferation in the developing stratified epithelium.Uncovering molecular biomarkers that correlate cognitive decline with the changes of hippocampus' gene expression profiles in Alzheimer's disease.NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.A Preliminary Genome-Wide Association Study of Pain-Related Fear: Implications for Orofacial Pain.Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus.Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes.The cytoskeleton in neurodegenerative diseases.Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.Genetic factors underlying the risk of bortezomib induced peripheral neuropathy in multiple myeloma patients.A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2EMolecular 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.Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.Inherited peripheral neuropathies.Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyCerebrospinal fluid biomarkers for Alzheimer disease and subcortical axonal damage in 5,542 clinical samplesCharcot-marie-tooth disease: seventeen causative genes.Neurofilamentopathy in neurodegenerative diseasesDemyelinating prenatal and infantile developmental neuropathies.Neurofilament phosphorylation and their proline-directed kinases in health and disease.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Intermediate Charcot-Marie-Tooth disease.
P2860
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P2860
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
description
2003 nî lūn-bûn
@nan
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mutations in the neurofilament ...... e Charcot-Marie-Tooth disease.
@ast
Mutations in the neurofilament ...... e Charcot-Marie-Tooth disease.
@en
Mutations in the neurofilament light chain gene
@nl
type
label
Mutations in the neurofilament ...... e Charcot-Marie-Tooth disease.
@ast
Mutations in the neurofilament ...... e Charcot-Marie-Tooth disease.
@en
Mutations in the neurofilament light chain gene
@nl
prefLabel
Mutations in the neurofilament ...... e Charcot-Marie-Tooth disease.
@ast
Mutations in the neurofilament ...... e Charcot-Marie-Tooth disease.
@en
Mutations in the neurofilament light chain gene
@nl
P2093
P356
P1433
P1476
Mutations in the neurofilament ...... re Charcot-Marie-Tooth disease
@en
P2093
A Jordanova
C Ceuterick
C F Boerkoel
D Terespolsky
E De Vriendt
H Takashima
I J Butler
I Kremensky
P304
P356
10.1093/BRAIN/AWG059
P407
P50
P577
2003-03-01T00:00:00Z