Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.
about
A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth diseaseParkinson's disease-associated kinase PINK1 regulates Miro protein level and axonal transport of mitochondriaThe axonal transport of mitochondriaDisease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activationTRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy.CNS-derived glia ensheath peripheral nerves and mediate motor root development.Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Bicyclic-Capped Histone Deacetylase 6 Inhibitors with Improved Activity in a Model of Axonal Charcot-Marie-Tooth DiseaseAltered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathyAssociation of the Charcot-Marie-Tooth disease gene ARHGEF10 with paclitaxel induced peripheral neuropathy in NCCTG N08CA (Alliance).PATHOLOGIES OF AXONAL TRANSPORT IN NEURODEGENERATIVE DISEASESInherited mitochondrial optic neuropathies.Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathyAn axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.The mitochondrial connection in auditory neuropathy.Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.Review on intermediate filaments of the nervous system and their pathological alterations.Ophthalmic manifestations of inherited neurodegenerative disorders.HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease.An uncommon case of a female carrier of two distinct X-linked disorders.Structure, function, and regulation of mitofusin-2 in health and disease.Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.A Role for ARF6 and ARNO in the regulation of endosomal dynamics in neurons.DHTKD1 deficiency causes Charcot-Marie-Tooth disease in mice.HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease
P2860
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P2860
Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.
description
2006 nî lūn-bûn
@nan
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
2006年论文
@zh-cn
name
Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.
@ast
Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.
@en
type
label
Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.
@ast
Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.
@en
prefLabel
Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.
@ast
Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.
@en
P356
P1476
Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.
@en
P356
10.1038/NCPNEURO0071
P577
2006-01-01T00:00:00Z