Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
about
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patientsStructure of the Keap1:Nrf2 interface provides mechanistic insight into Nrf2 signalingNew mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathyCrystal structure of the Kelch domain of human Keap1Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice.Giant axonal neuropathy: clinical and genetic study in six cases.Clinical utility of peripheral nerve biopsy.Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.Animal models in genomic research: Techniques, applications, and roles for nurses.Gigaxonin mutation analysis in patients with NIFID.Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy.Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms.Giant axonal neuropathy and anaesthesia.Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
P2860
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P2860
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
description
2002 nî lūn-bûn
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2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2002年の論文
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2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
@ast
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
@en
Giant axonal neuropathy
@nl
type
label
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
@ast
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
@en
Giant axonal neuropathy
@nl
prefLabel
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
@ast
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
@en
Giant axonal neuropathy
@nl
P2093
P356
P1433
P1476
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
@en
P2093
Domschke K
Hünermund G
Kuhlenbäumer G
Oberwittler C
Ringelstein B
Schirmacher A
Stögbauer F
P304
P356
10.1212/WNL.58.8.1273
P407
P577
2002-04-01T00:00:00Z