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Giant Axonal Neuropathy

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Giant Axonal Neuropathy" returned 1 free, full-text review articles. First 1 results:
Two novel mutations in the GAN gene causing giant axonal neuropathy.
Last Updated: Mar 06, 2020

Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by the end of ...

A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.
Last Updated: Nov 13, 2018

Gigaxonin, the product of GAN gene localized to chromosome 16, is associated with the early onset neuronal degeneration disease giant axonal neuropathy (GAN). Gigaxonin is an E3 ubiquitin ligase adaptor protein involved in intermediate filament processing in neural cells, and vimentin ...

Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis.
Last Updated: Sep 25, 2014

Giant axonal neuropathy (GAN) is a rare pediatric neurodegenerative disease. It is best known for the "giant" axons caused by accumulations of intermediate filaments. The disease is progressive, with onset around age 3 years and death by the third decade of life. GAN results from ...

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1 Free Review Articles 8 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Giant Axonal Neuropathy" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Giant Axonal Neuropathy" returned 26 free, full-text research articles. First few results:
Giant axonal neuropathy: A differential diagnosis of consideration.
Last Updated: Jul 08, 2020

Edem P, Karakaya M, Wirth B, Okur TD, Yiş U. Giant axonal neuropathy: A differential diagnosis of consideration. Turk J Pediatr 2019; 61: 275-278. Giant axonal neuropathy (GAN) is a rare neurodegenerative disorder affecting both the central and peripheral nervous systems progressively. ...

The rare Alus element-mediated chimerism of multiple de novo complex rearrangement sequences in GAN result in giant axonal neuropathy.
Last Updated: Oct 01, 2020

Giant axonal neuropathy (GAN) is a rare and grievous autosomal recessive neurodegenerative disease due to loss-of-function mutation in GAN. However, the chimerism of complex rearrangement sequences of GAN has not been reported so far, and the mechanism for its complex rearrangements ...

Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.
Last Updated: Jun 12, 2020

Growing evidence shows that alterations occurring at early developmental stages contribute to symptoms manifested in adulthood in the setting of neurodegenerative diseases. Here, we studied the molecular mechanisms causing giant axonal neuropathy (GAN), a severe neurodegenerative ...

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26 Free Research Articles 92 Research Articles