Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
about
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophyGenetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.
P2860
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
@ast
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
@en
type
label
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
@ast
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
@en
prefLabel
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
@ast
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
@en
P2093
P2860
P1433
P1476
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E
@en
P2093
Carly Siskind
Chiara Pisciotta
Kathryn M Brennan
Michael Gonzalez
Shawna Feely
Stephan Zuchner
Suola Wang
Tiffany Grider
Xingyao Wu
Yunhong Bai
P2860
P304
P356
10.1212/WNL.0000000000001773
P407
P577
2015-06-24T00:00:00Z