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Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E
OBJECTIVE: To investigate the effects of NEFL Glu396Lys mutation on the expression and assembly of neurofilaments (NFs) in cutaneous nerve fibers of patients with Charcot-Marie-Tooth disease type 2E (CMT2E). METHODS: A large family with CMT2E underwent clinical, electrophysiologic, and skin biopsy s...
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| Publicado no: | Neurology |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4516296/ https://ncbi.nlm.nih.gov/pubmed/26109717 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001773 |
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