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Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues

Giant axonal neuropathy (GAN) is a rare hereditary neurodegenerative disorder characterised by accumulation of excess neurofilaments in the axons of peripheral and central nervous systems, which hampers signal transmission. It usually manifests in infancy and early childhood and is slowly progressiv...

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Hlavní autoři: Kamate, Mahesh, Ramakrishna, Shashikala, Kambali, Shweta, Mahadevan, Anita
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2014
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4166128/
https://ncbi.nlm.nih.gov/pubmed/25216920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2014-204481
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