Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens

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 pathology seen in...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Armao, Diane, Bouldin, Thomas W., Bailey, Rachel M., Hooper, Jody E., Bharucha, Diana X., Gray, Steven J.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Letter to the Editor
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6359799/
https://ncbi.nlm.nih.gov/pubmed/30709364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0957-5
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