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Wiley电子期刊(1)
SpringerLink电子期刊(3)
Elsevier电子期刊(6)
在“
Elsevier电子期刊
”中,
命中:
6
条,耗时:0.0169933 秒
在所有数据库中总计命中:
10
条
1.
Limb
-
girdle
congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review
作者:
Xinghua Luan
1
;
Wotu Tian
1
;
Li Cao
;
caoli2000@yeah.net" class="auth_mail" title="E-mail the corresponding author
关键词:
Congenital myasthenic syndrome
;
Neuromuscular transmission
;
MUSK gene
;
Limb
-
girdle
CMS
;
Missense mutations
刊名:Clinical Neurology and Neurosurgery
出版年:2016
2.
Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children
作者:
Chang-Yong Tsao
;
MD
;
changyong.tsao@nationwidechildrens.org" class="auth_mail" title="E-mail the corresponding author
关键词:
congenital myasthenic syndromes (
CMS
)
;
DOK7 (downstream of tyrosine kinase 7) gene
;
expanded neuromuscular gene panel
;
Limb
-
girdle
muscle weakness
刊名:Pediatric Neurology
出版年:2016
3.
Salbutamol-responsive
limb
-
girdle
congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
作者:
Constanze Gallenm眉ller
;
Wolfgang M眉ller-Felber
;
Marina Dusl
;
Rolf Stucka
;
Velina Guergueltcheva
;
Astrid Blaschek
;
Maja von der Hagen
;
Angela Huebner
;
Juliane S. M眉ller
;
Hanns Lochm眉ller
;
Angela Abicht
关键词:
AChR
;
acetylcholine receptor
;
AChE
;
acetylcholine esterase
;
CK
;
creatine kinase
;
CMAP
;
compound muscle action potential
;
CMS
;
congenital myasthenic syndrome
刊名:Neuromuscular Disorders
出版年:January, 2014
4.
O.21 Congenital Myasthenic Syndrome (
CMS
), autophagic myopathy, and cognitive dysfunction caused by mutations in DPAGT1
作者:
D. Selcen
;
X.M. Shen
;
Y. Li
;
E.D. Wieben
;
A.G. Engel
刊名:Neuromuscular Disorders
出版年:2013
5.
Kinematics of obstacle clearance in the rat
作者:
Olivier Perrot
a
;
b
;
Davy Laroche
d
;
Thierry Pozzo
a
;
c
;
Christine Marie
a
;
b
;
chmarie@u-bourgogne.fr
关键词:
3D motion analysis
;
Kinematics
;
Challenged locomotion
;
Obstacle avoidance
;
Treadmill
;
Rats
刊名:Behavioural Brain Research
出版年:2011
6.
Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges
作者:
M. Kinali
;
D. Beeson
;
M.C. Pitt
;
H. Jungbluth
;
A.K. Simonds
;
A. Aloysius
;
H. Cockerill
;
T. Davis
;
J. Palace
;
A.Y. Manzur
;
C. Jimenez-Mallebrera
;
C. Sewry
;
F. Muntoni
;
S.A. Robb
关键词:
Congenital Myasthenic Syndrome
;
Management
;
Diagnosis
刊名:Journal of Neuroimmunology
出版年:2008
1
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文摘(4)
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