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内部出版物
CNKI学位论文(77)
知网期刊论文(51)
在“
Elsevier电子期刊
”中,
命中:
67
条,耗时:小于0.01 秒
在所有数据库中总计命中:
128
条
1.
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
2.
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
3.
Phenotypic heterogeneity in two large Roma families with a
congenital
myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
作者:
D. Natera-de Benito
a
;
daninatera@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
J. Domí
;
nguez-Carral
b
;
N. Muelas
c
;
A. Nascimento
d
;
C. Ortez
d
;
T. Jaijo
c
;
R. Arteaga
b
;
J. Colomer
d
;
J.J. Vilchez
c
关键词:
CHRNE
;
Acetylcholine receptor
;
Congenital
myasthenic syndrome
;
Congenital
myasthenia
;
Roma gypsies
;
Neuromuscular junction
;
Pyridostigmine
;
3
;
4-Diaminopyridine
;
Founder mutation
刊名:Neuromuscular Disorders
出版年:2016
4.
Long-term follow-up in patients with
congenital
myasthenic syndrome due to RAPSN mutations
作者:
D. Natera-de Benito
a
;
daninatera@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
M. Bestué
;
b
;
J.J. Vilchez
c
;
T. Evangelista
d
;
A. Tö
;
pf
d
;
A. Garcí
;
a-Ribes
e
;
M.J. Trujillo-Tiebas
f
;
M. Garcí
;
a-Hoyos
g
;
C. Ortez
h
;
A. Camacho
i
;
E. Jimé
;
nez
j
;
M. Dusl
k
;
A. Abicht
k
;
l
;
H. Lochmü
;
ller
d
;
J. Colomer
h
;
1
;
A. Nascimento
h
;
1
关键词:
Rapsyn
;
Congenital
myasthenic syndrome
;
Congenital
myasthenia
;
Neuromuscular junction
;
Pyridostigmine
;
3
;
4-diaminopyridine
刊名:Neuromuscular Disorders
出版年:2016
5.
Congenital
myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-
myasthenia
gravis
作者:
Ernestina Santos
a
;
Isabel Moreira
a
;
Ester Coutinho
b
;
Guilherme Gonç
;
alves
c
;
Carlos Lopes
d
;
José
;
Lopes Lima
a
;
M. Isabel Leite
b
;
maria.leite@ndcn.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author
关键词:
Myasthenia
gravis
;
Congenital
myasthenic syndrome
;
Neuromuscular junction disorder
刊名:Neuromuscular Disorders
出版年:2015
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.
LRP4 in neuromuscular junction and bone development and diseases
作者:
Chengyong Shen
;
Wen-Cheng Xiong
;
Lin Mei
;
lmei@gru.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Bone
;
Neuromuscular junction
;
Low-density lipoprotein receptor-related protein 4
;
Myasthenia
gravis
刊名:Bone
出版年:2015
8.
Clinical and pathological heterogeneity of a
congenital
disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
作者:
Dorota M. Monies
a
;
b
;
Hindi N. Al-Hindi
b
;
c
;
Mohamed A. Al-Muhaizea
b
;
d
;
Dyala J. Jaroudi
a
;
b
;
Banan Al-Younes
a
;
b
;
Ewa A. Naim
a
;
b
;
Salma M. Wakil
a
;
b
;
Brian F. Meyer
a
;
b
;
meyerb@kfshrc.edu.sa" class="auth_mail
;
Saeed Bohlega
b
;
d
关键词:
Congenital
disorder of glycosylation
;
Myasthenia
;
Myopathy
刊名:Neuromuscular Disorders
出版年:April, 2014
9.
Salbutamol therapy in
congenital
myasthenic syndrome due to DOK7 mutation
作者:
Paulo J. Lorenzoni
;
Rosana H. Scola
;
Cl¨¢udia S.K. Kay
;
Luciane Filla
;
Anna P.P. Mir
a ;
Jo?o M.R. Pinheiro
;
Amina Chaouch
;
Hanns Lochm¨¹ller
;
Lineu C. Werneck
关键词:
ADL-MG
;
myasthenia
gravis activities of daily living
;
CMS
;
congenital
myasthenic syndromes
;
Dok-7 CMS
;
CMS related to Dok-7 deficiency
;
QMG
;
quantitative
myasthenia
gravis
;
6MWT
;
6
;
minute walk test
刊名:Journal of the Neurological Sciences
出版年:2013
10.
Specific binding of collagen Q to the neuromuscular junction is exploited to cure
congenital
myasthenia
and to explore bases of
myasthenia
gravis
作者:
Kinji Ohno
a
;
ohnok@med.nagoya-u.ac.jp
;
Mikako Ito
a
;
Yu Kawakami
a
;
Eric Krejci
b
;
Andrew G. Engel
c
关键词:
Collagen Q
;
Acetylcholinesterase
;
Adeno-associated virus
;
Myasthenia
gravis
刊名:Chemico-Biological Interactions
出版年:2013
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