设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(11)
ACS电子期刊(1)
Springer电子图书(3)
Elsevier电子期刊(42)
在“
Elsevier电子期刊
”中,
命中:
42
条,耗时:小于0.01 秒
在所有数据库中总计命中:
58
条
1.
The Dutch patients' perspective on oculopharyn
g
eal muscular dystrophy: A questionnaire study on fati
g
ue, pain and impairments
作者:
Barbara M. van der Sluijs
a
;
Hans Knoop
b
;
G
ijs Bleijenber
g
b
;
Baziel
G
.M. van En
g
elen
a
;
1
;
Nicol C. Voermans
a
;
1
;
nicol.voermans@radboudumc.nl" class="auth_mail" title="E-mail the correspondin
g
author
关键词:
OPMD
;
Functional impairments
;
Pain
;
Fati
g
ue
刊名:Neuromuscular Disorders
出版年:2016
2.
G
enetic defects in the hexosamine and sialic acid biosynthesis pathway
作者:
Anke P. Willems
a
;
b
;
Baziel
G
.M. van En
g
elen
a
;
Dirk J. Lefeber
a
;
b
;
Dirk.Lefeber@radboudumc.nl" class="auth_mail" title="E-mail the correspondin
g
author
关键词:
AChE
;
Acetylcholinesterase
;
AChR
;
Acetylcholine Receptor
;
AL
G
13
;
14
;
UDP-N-acetyl
g
lucosaminyltransferase subunit 13
;
14
;
AMDHD2
;
Amidohydrolase domain containin
g
2
;
ATP
;
Adenosine triphosphate
;
Aβ
;
Amyloid β
;
CD
G
;
Con
g
enital disorders of
g
lycosylation
;
CMAS
;
Cytidine monophosphate N-acetylneuraminic acid synthetase
;
CMP
;
Cytidine monophosphate
;
CMS
;
Con
g
enital myasthenic syndrome
;
CTP
;
Cytidine triphosphate
;
DMRV
;
Distal myopathy with rimmed vacuoles
;
DPA
G
T1
;
Dolichyl-phosphate (UDP-N-acetyl
g
luco
刊名:Biochimica et Biophysica Acta (BBA) -
G
eneral Subjects
出版年:2016
3.
The epidemiolo
g
y of neuromuscular disorders: A
g
e at onset and
g
ender in the Netherlands
作者:
Johanna C.W. Deenen
a
;
Pieter A. van Doorn
b
;
Catharina
G
. Faber
c
;
Anneke J. van der Kooi
d
;
Jan B.M. Kuks
e
;
Nicolette C. Notermans
f
;
Leo H. Visser
g
;
Corinne
G
.C. Horlin
g
s
a
;
Jan J.
G
.M. Verschuuren
h
;
André
;
L.M. Verbeek
i
;
1
;
Baziel
G
.M. van En
g
elen
a
;
1
;
baziel
.vanen
g
elen@radboudumc.nl" class="auth_mail" title="E-mail the correspondin
g
author
关键词:
Neuromuscular disorders
;
Neuromuscular diseases
;
Epidemiolo
g
y
;
A
g
e
;
G
ender
刊名:Neuromuscular Disorders
出版年:2016
4.
Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015
作者:
Rabi Tawil
a
;
Rabi_Tawil@URMC.Rochester.edu" class="auth_mail" title="E-mail the correspondin
g
author
;
Jean K. Mah
b
;
Scott Baker
c
;
Kathryn R. Wa
g
ner
d
;
Monique M. Ryan
e
;
f
;
The Sydney Workshop ParticipantsScott Baker
1
;
Alistair Corbett
2
;
Baziel
van En
g
elen
3
;
Stephen McNamara
4
;
Jean K. Mah
5
;
Monique M. Ryan
6
;
John Rasko
7
;
Veena Raykar
8
;
Sabrina Sacconi
9
;
Stephen J. Tapscott
10
;
Rabi Tawil
11
;
Kathryn R. Wa
g
ner
12
;
Alan Watts
13
刊名:Neuromuscular Disorders
出版年:2016
5.
Compound heterozy
g
ous mutations of the TNXB
g
ene cause primary myopathy
作者:
Nicol C. Voermans
;
Karin
G
errits
;
Baziel
G
. van En
g
elen
;
Arnold de Haan
刊名:Neuromuscular Disorders
出版年:January, 2014
6.
200th ENMC International Workshop 鈥淓uropean Reference Networks: Recommendations and Criteria in the Neuromuscular field鈥? 18-20 October 2013, Naarden, the Netherlands
作者:
Teresinha Evan
g
elista
a
;
teresinha.evan
g
elista@ncl.ac.uk" class="auth_mail
;
Baziel
van En
g
elen
b
;
Kate Bushby
a
刊名:Neuromuscular Disorders
出版年:June 2014
7.
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers
作者:
Valeria
G
u
g
lielmi
;
G
aetano Vattemi
;
Francesca
G
ual
i ;
Nicol C. Voermans
;
Matteo Marini
;
Chiara Scotton
;
Elena Pe
g
oraro
;
Arie Oosterhof
;
Ma
g
dolna K¨®sa
;
Ern? Z¨¢dor
;
Enza Maria Valente
;
Domenico De
G
r
;
is
;
Marcella Neri
;
Valentina Codemo
;
Antonio Novelli
;
Toin H. van Kuppevelt
;
Bruno Dallapiccola
;
Baziel
G
. van En
g
elen
;
Aless
;
ra Ferlini
;
G
iuliano Tomelleri
;
et al.
关键词:
Brody disease
;
Sarcoplasmic/endoplasmic reticulum Ca2
;
+-ATPase 1 (SERCA1)
;
Brody syndrome
;
ATP2A1
g
ene
刊名:Molecular
G
enetics and Metabolism
出版年:2013
8.
The European NeuroMuscular Centre (ENMC): 20 years on ¡
作者:
Baziel
van En
g
elen
;
MD PhD
a
;
Daniel Zollin
g
er
;
PhD
;
b
;
zollin
g
er@enmc.or
g
;
Marita Pohlschmidt
;
PhD
c
;
Anna Ambrosini
;
MD
d
;
Jes Rahbek
e
刊名:Neuromuscular Disorders
出版年:2013
9.
191st ENMC International Workshop: Recent advances in oculopharyn
g
eal muscular dystrophy research: From bench to bedside 8-10 June 2012, Naarden, The Netherlands
作者:
Vered Raz
a
;
V.Raz@lumc.nl
;
G
illian Butler-Browne
b
;
Baziel
van En
g
elen
c
;
Bernard Brais
d
刊名:Neuromuscular Disorders
出版年:2013
10.
160th ENMC International Workshop (First ENMC practical care workshop) Exercise trainin
g
in patients with muscle diseases: 20-22 June 2008, Naarden, The Netherlands
作者:
John Vissin
g
a
;
vissin
g
@rh.dk
;
Baziel
G
.M. van En
g
elen
b
刊名:Neuromuscular Disorders
出版年:2013
1
2
3
4
5
按检索点细分(42)
题名(2)
作者(40)
按出版年细分(42)
2027年及以后(3)
2016年(4)
2013年(4)
2012年(2)
2011年(5)
2010年(5)
2009年(1)
2008年(1)
2007年(3)
2006年(8)
2005年(2)
2003年(1)
2000年(1)
2000年及以前(2)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.