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内部出版物
CNKI学位论文(5)
知网期刊论文(1)
在“
SpringerLink电子期刊
”中,
命中:
3
条,耗时:0.0429819 秒
在所有数据库中总计命中:
6
条
1.
NEFL N98S mutation: another cause of
dominant
intermediate
Charcot–Marie–Tooth
disease
with heterogeneous early-onset phenotype
作者:
José Berciano
;
Kristien Peeters
;
Antonio García…
关键词:
Cerebellar ataxia
;
Charcot–Marie–Tooth
disease
types 2E and 1F
;
Dominant
intermediate
Charcot–Marie–Tooth
disease
;
Muscle edema
;
Muscle fatty atrophy
;
NEFL N98S mutation
刊名:Journal of Neurology
出版年:2016
2.
NEFL E396K mutation is associated with a novel
dominant
intermediate
Charcot–Marie–Tooth
disease
phenotype
作者:
José Berciano
;
Antonio García
;
Kristien Peeters
;
Elena Gallardo…
关键词:
Blink reflex
;
Brainstem auditory evoked potentials
;
Charcot–Marie–Tooth
disease
types 1F and 2E
;
CMTNS
;
Dominant
intermediate
Charcot–Marie–Tooth
disease
;
Electrophysiology
;
Motor evoked potentials
;
MRI
;
Multi
;
slice CT
;
Muscle fatty atrophy
;
Muscle oedema
;
NEFL E396K mutation
;
Nerve conduction
;
Neurofilament
;
Pelvic girdle weakness
;
Somatosensory evoked potentials
;
SPG10
;
T
;
reflex recording
;
Visual evoked potentials
刊名:Journal of Neurology
出版年:2015
3.
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland
作者:
Boglarka Bansagi
;
Thalia Antoniadi
;
Sarah Burton-Jones…
关键词:
Charcot–Marie–Tooth
disease
(CMT)
;
Axonal neuropathy
;
Aminoacyl
;
tRNA synthetases (ARS)
;
Alanyl
;
tRNA synthetase (AARS)
刊名:Journal of Neurology
出版年:2015
1
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