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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurology
Prif Awduron: Pisciotta, Chiara, Bai, Yunhong, Brennan, Kathryn M., Wu, Xingyao, Grider, Tiffany, Feely, Shawna, Wang, Suola, Moore, Steven, Siskind, Carly, Gonzalez, Michael, Zuchner, Stephan, Shy, Michael E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Lippincott Williams & Wilkins 2015
Pynciau:
Article
Mynediad Ar-lein: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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