Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair.
about
Giant axonal neuropathy: observations on a further patient.Dysfunctions of neuronal and glial intermediate filaments in diseaseSignaling mechanisms and disrupted cytoskeleton in the diphenyl ditelluride neurotoxicityAbnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblastsGiant axonal neuropathy: An updated perspective on its pathology and pathogenesis.Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.Localization of the giant axonal neuropathy gene to chromosome 16q24.Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxoninGiant axonal neuropathy: clinical and genetic study in six cases.Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal NeuropathyGiant axonal neuropathy: a conditional mutation affecting cytoskeletal organization.Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.Giant axonal neuropathy: acceleration of neurofilament transport in optic axons.Giant axonal neuropathy: a pictorial essay and review of literature.Canine giant axonal neuropathy; some aspects of its clinical, pathological and comparative features.Giant axonal neuropathy: normal protein composition of neurofilamentsExplaining intermediate filament accumulation in giant axonal neuropathyGene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.Clinical and genetic studies in a Chinese family with giant axonal neuropathy.Giant axonal neuropathy: clinical, electrophysiologic, and neuropathologic features in two siblings.Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy.
P2860
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P2860
Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair.
description
1977 nî lūn-bûn
@nan
1977年の論文
@ja
1977年論文
@yue
1977年論文
@zh-hant
1977年論文
@zh-hk
1977年論文
@zh-mo
1977年論文
@zh-tw
1977年论文
@wuu
1977年论文
@zh
1977年论文
@zh-cn
name
Generalized giant axonal neuro ...... a patient without kinky hair.
@en
Generalized giant axonal neuro ...... a patient without kinky hair.
@nl
type
label
Generalized giant axonal neuro ...... a patient without kinky hair.
@en
Generalized giant axonal neuro ...... a patient without kinky hair.
@nl
prefLabel
Generalized giant axonal neuro ...... a patient without kinky hair.
@en
Generalized giant axonal neuro ...... a patient without kinky hair.
@nl
P2093
P356
P1476
Generalized giant axonal neuro ...... a patient without kinky hair.
@en
P2093
A Bischoff
E Boltshauser
P2888
P304
P356
10.1007/BF00691956
P577
1977-11-01T00:00:00Z