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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: Jun 17, 2019

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 24 free, full-text research articles. First few results:
Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens.
Last Updated: Apr 19, 2019

Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder associated with intracellular accumulations of intermediate filaments (IFs). GAN knockout (KO) mouse models mirror the IF dysregulation and widespread nervous system ...

Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair.
Last Updated: Dec 14, 2018

Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. The patients display a number of phenotypes, including hypotonia, muscle weakness, decreased ...

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24 Free Research Articles 89 Research Articles