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Wiley电子期刊(3)
Springer电子图书(1)
SpringerLink电子期刊(21)
Elsevier电子期刊(104)
在“
Elsevier电子期刊
”中,
命中:
104
条,耗时:小于0.01 秒
在所有数据库中总计命中:
129
条
1.
Congenital
myasthenic
syndrome in Israel: Genetic and clinical characterization
作者:
Sharon Aharoni
a
;
b
;
aharonis@zahav.net.il
;
Menachem Sadeh
b
;
c
;
Yehuda Shapira
d
;
Simon Edvardson
d
;
Muhannad Daana
d
;
Talia Dor-Wollman
d
;
Aviva Mimouni-Bloch
e
;
b
;
Ayelet Halevy
a
;
b
;
Rony Cohen
a
;
b
;
Liora Sagie
f
;
Zohar Argov
g
;
Malcolm Rabie
a
;
b
;
Ronen Spiegel
h
;
Ilana Chervinsky
h
;
Naama Orenstein
i
;
b
;
Andrew G. Engel
j
;
Yoram Nevo
a
;
b
关键词:
Congenital
myasthenic
syndrome (CMS)
;
Genetic mutations
;
RAPSN
;
COLQ
;
CHRNE
刊名:Neuromuscular Disorders
出版年:2017
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.
Myasthenia gravis and
congenital
myasthenic
syndromes
in dogs and cats: A history and mini-review
作者:
G. Diane Shelton
;
gshelton@ucsd.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Canine
;
Feline
;
Neuromuscular junction
;
Acetylcholine receptor
刊名:Neuromuscular Disorders
出版年:2016
4.
Study of the prevalence of familial autoimmune myasthenia gravis in a Spanish cohort
作者:
Maria Salvado
;
Merce Canela
;
Jose Maria Ponseti
;
Laura Lorenzo
;
Cecilia Garcia
;
Sonia Cazorla
;
Gisela Gili
;
Nuria Raguer
;
Josep Gamez
;
josepgamez.bcn@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
MG
;
myasthenia gravis
;
FAMG
;
familial autoimmune myasthenia gravis
;
LO
;
late onset
;
VLO
;
very late onset
;
CMS
;
congenital
myasthenic
syndromes
;
MGFA
;
Myasthenia Gravis Foundation of America
刊名:Journal of the Neurological Sciences
出版年:2016
5.
Clinical and Molecular Analysis of a Novel COLQ Missense Mutation Causing
Congenital
Myasthenic
Syndrome in a Syrian Family
作者:
Hussein N. Matlik
;
MD
a
;
Reham M. Milhem
;
MSc
b
;
Imad Y. Saadeldin
;
MD
a
;
Hayat S. Al-Jaibeji
;
BSc
b
;
Lihadh Al-Gazali
;
MD
c
;
Bassam R. Ali
;
PhD
b
;
bassam.ali@uaeu.ac.ae" class="auth_mail
关键词:
congenital
myasthenic
syndromes
;
COLQ
;
CMS
;
end-plate acetylcholinesterase deficiency
刊名:Pediatric Neurology
出版年:July 2014
6.
A CHRNE frameshift mutation causes
congenital
myasthenic
syndrome in young Jack Russell Terriers
作者:
Caitlin J. Rinz
a
;
Vanda A. Lennon
b
;
Fiona James
c
;
James B. Thoreson
b
;
Kate L. Tsai
a
;
Alison N. Starr-Moss
a
;
H. Dale Humphries
d
;
Ling T. Guo
d
;
Anthony C. Palmer
e
;
Leigh Anne Clark
a
;
lclark4@clemson.edu" class="auth_mail" title="E-mail the corresponding author
;
G. Diane Shelton
d
;
gshelton@ucsd.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Canine
;
Muscle nicotinic acetylcholine receptor
;
Neuromuscular junction
;
Animal model
;
Myasthenia gravis
刊名:Neuromuscular Disorders
出版年:2015
7.
Fast-channel
congenital
myasthenic
syndrome with a novel acetylcholine receptor mutation at the 伪-蔚 subunit interface
作者:
Richard Webster
;
Wei-Wei Liu
;
Amina Chaouch
;
Hanns Lochm眉ller
;
David Beeson
关键词:
Acetylcholine receptor
;
Congenital
myasthenic
syndrome
;
Fast channel
;
Mutation
刊名:Neuromuscular Disorders
出版年:February, 2014
8.
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
9.
DOK7 limb-girdle
myasthenic
syndrome mimicking
congenital
muscular dystrophy
作者:
Ibrahim Mahjneh
a
;
b
;
ibrahim.mahjneh@mhso.fi
;
Hanns Lochmü
;
ller
c
;
Francesco Muntoni
d
;
Angela Abicht
e
关键词:
Congenital
muscular dystrophy
;
Congenital
myasthenic
syndromes
;
Limb-girdle
myasthenic
syndrome
刊名:Neuromuscular Disorders
出版年:2013
10.
G.P.83 -
Congenital
myasthenic
syndromes
in Israel: Genetic and clinical characterization
刊名:Neuromuscular Disorders
出版年:2015
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