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SpringerLink电子期刊(4)
Elsevier电子期刊(6)
在“
Elsevier电子期刊
”中,
命中:
6
条,耗时:0.0109963 秒
在所有数据库中总计命中:
10
条
1.
P.12.3 Do congenital myasthenic syndromes in childhood have a common face? Clinical profile of slow channel, CHRNE and RAPSYN
mutation
s
作者:
M.S. Ekker
;
A. Rietveld
;
B. Eymard
;
C.E. Erasmus
;
L.T.L. Sie
刊名:Neuromuscular Disorders
出版年:2013
2.
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a
N88K
rapsyn homozygous
mutation
作者:
Yasaki
;
Eriko
;
Prioleau
;
Cassandra
;
Barbier
;
Julien
;
Richard
;
Pascale
;
Andreux
;
Fré
;
dé
;
ric
;
et. al.
关键词:
Congenital myasthenic syndrome
;
Acetylcholine receptor deficiency
;
Rapsyn
;
Synaptic depression
;
Neuromuscular junction
刊名:Neuromuscular Disorders
出版年:2004
3.
M.P.1.06 A heterozygous Rapsyn (RAPSN) gene
mutation
(
N88K
) and (S201R), is a cause of progressive Limb Girdle Myasthenia
作者:
J. Colomer
;
A. Nascimento
;
J.S. Mü
;
ller
;
A. Abicht
;
H. Lochmü
;
ller
;
L. Turó
n ;
C. Ortez
;
D. Pascual-Vaca
刊名:Neuromuscular Disorders
出版年:2008
4.
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome
作者:
Mü
;
ller
;
Juliane S.
;
Abicht
;
Angela
;
Christen
;
Hans-Jü
;
rgen
;
Stucka
;
Rolf
;
Schara
;
Ulrike
;
et. al.
关键词:
Congenital myasthenic syndrome
;
Rapsyn
;
Mutation
N88K
;
Chromosomal deletion
;
Neuromuscular junction
刊名:Neuromuscular Disorders
出版年:2004
5.
Novel truncating RAPSN
mutation
s causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine
作者:
Banwell
;
Brenda L.
;
Ohno
;
Kinji
;
Sieb
;
Joern P.
;
Engel
;
Andrew G.
关键词:
Congenital myasthenic syndrome
;
Human rapsyn deficiency
;
Therapy
;
3
;
4-Diaminopyridine
刊名:Neuromuscular Disorders
出版年:2004
6.
Rapsyn
Mutation
s in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome
作者:
Kinji Ohno
;
Andrew G. Engel
;
Xin-Ming Shen
;
Duygu Selcen
;
Joan Brengman
;
C. Michel Harper
;
Akira Tsujino
;
Margherita Milone
刊名:The American Journal of Human Genetics
出版年:2002
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