A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
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Dominant GDAP1 mutations cause predominantly mild CMT phenotypesAxon Initial Segment Cytoskeleton: Architecture, Development, and Role in Neuron PolarityCharcot-Marie-Tooth disease and intracellular trafficMolecular regulators of nerve conduction - Lessons from inherited neuropathies and rodent genetic modelsCryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyNEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseGenetic spectrum of hereditary neuropathies with onset in the first year of lifeAxonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.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.Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2ENeurofilament Phosphorylation during Development and Disease: Which Came First, the Phosphorylation or the Accumulation?Peripherin is a subunit of peripheral nerve neurofilaments: implications for differential vulnerability of CNS and peripheral nervous system axons.Neurofilaments at a glance.N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophyMicroRNAs in the Neural Retina.Demyelinating prenatal and infantile developmental neuropathies.Neurofilament dynamics and involvement in neurological disorders.Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse modelGenetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Neurofilaments and Neurofilament Proteins in Health and Disease.Vimentin phosphorylation and assembly are regulated by the small GTPase Rab7a.Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.Cytoskeletal changes during development and aging in the cortex of neurofilament light protein knockout mice.Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs.Blastomere biopsy influences epigenetic reprogramming during early embryo development, which impacts neural development and function in resulting mice.Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments.Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Considerable post-partum worsening in a patient with CMT2E.Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.Neurofilament light interaction with GluN1 modulates neurotransmission and schizophrenia-associated behaviors
P2860
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P2860
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
@ast
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
@en
type
label
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
@ast
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
@en
prefLabel
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
@ast
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
@en
P2093
P2860
P356
P1433
P1476
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
@en
P2093
Junxian Zhang
Sabrina W Yum
Steven S Scherer
P2860
P304
P356
10.1002/ANA.21728
P577
2009-12-01T00:00:00Z