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
CNKI学位论文(86)
CNKI期刊论文0611(1)
知网期刊论文(53)
在“
Elsevier电子期刊
”中,
命中:
59
条,耗时:0.0569717 秒
在所有数据库中总计命中:
140
条
1.
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis
作者:
Markus Riessland
1
;
2
;
3
;
13
;
14
;
Anna Kaczmarek
1
;
2
;
3
;
13
;
Svenja Schneider
1
;
2
;
3
;
13
;
Kathryn J. Swoboda
4
;
Heiko Lö
;
hr
5
;
7
;
Cathleen Bradler
6
;
7
;
Vanessa Grysko
1
;
2
;
3
;
Maria Dimitriadi
8
;
15
;
Seyyedmohsen Hosseinibarkooie
1
;
2
;
3
;
Laura Torres-Benito
1
;
2
;
3
;
Miriam Peters
1
;
2
;
3
;
Aaradhita Upadhyay
1
;
2
;
3
;
Nasim Biglari
1
;
2
;
3
;
Sandra Krö
;
ber
1
;
2
;
3
;
Irmgard Hö
;
lker
1
;
2
;
3
;
Lutz Garbes
1
;
2
;
3
;
Christian Gilissen
9
;
Alexander Hoischen
9
;
Gudrun Nü
;
rnberg
7
;
10
;
Peter Nü
;
rnberg
7
;
10
;
Michael Walter
11
;
Frank Rigo
12
;
C. Frank Bennett
12
;
Min Jeong Kye
1
;
2
;
Anne C. Hart
8
;
Matthias Hammerschmidt
2
;
5
;
7
;
Peter Kloppenburg
6
;
7
;
Brunhilde Wirth
1
;
2
;
3
;
brunhilde.wirth@uk-koeln.de
关键词:
spinal muscular dystrophy
;
SMA
;
genetic modifier
;
NCALD
;
endocytosis
;
asymptomatic
;
SMN2
;
SMN1
;
neuronal sensor
protein
;
PLS3
;
incomplete penetrance
刊名:The American Journal of Human Genetics
出版年:2017
2.
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
作者:
Dr Richard S Finkel
;
MD
a
;
rfinkel@nemours.org
;
Claudia A Chiriboga
;
MD
b
;
Jiri Vajsar
;
MD
c
;
John W Day
;
MD
d
;
Jacqueline Montes
;
EdD
b
;
Darryl C De Vivo
;
MD
b
;
Mason Yamashita
;
MD
e
;
Frank Rigo
;
PhD
e
;
Gene Hung
;
MD
e
;
Eugene Schneider
;
MD
e
;
Daniel A Norris
;
PhD
e
;
Shuting Xia
;
MS
e
;
C Frank Bennett
;
PhD
e
;
Kathie M Bishop
;
PhD
e
刊名:The Lancet
出版年:2017
3.
Loganin possesses neuroprotective properties, restores SMN
protein
and activates
protein
synthesis positive regulator Akt/mTOR in experimental models of spinal muscular atrophy
作者:
Yu-Ting Tseng
a
;
b
;
Cheng-Sheng Chen
c
;
e
;
Yuh-Jyh Jong
d
;
f
;
g
;
Fang-Rong Chang
a
;
Yi-Ching Lo
a
;
b
;
d
;
yichlo@kmu.edu.tw" class="auth_mail" title="E-mail the corresponding author
关键词:
SMN
;
survival motor neuron
;
SMA
;
spinal muscular atrophy
;
Akt
;
protein
kinase B
;
ERK
;
extracellular signal-regulated kinases
;
GSK-3β
;
glycogen synthase kinase-3 beta
;
CREB
;
cAMP response element-binding
protein
;
Elk-1
;
ETS-like transcription factor
;
BDNF
;
brain-derived neurotrophic factor
;
Bcl-2
;
B-cell lymphoma 2
;
IGF-1R
;
insulin-like growth factor-1 receptor
;
FL-
SMN2
;
full-length
SMN2
transcripts
;
mTOR
;
mammalian target of rapamycin
;
MAFbx/atrogin-1
;
muscle atrophy F-box
;
MuRF-1
;
muscle RING f
刊名:Pharmacological Research
出版年:2016
4.
Synthesis of a norcantharidin-tethered guanosine:
Protein
phosphatase-1 inhibitors that change alternative splicing
作者:
Stefan Kwiatkowski
a
;
b
;
Vitaliy M. Sviripa
a
;
b
;
Zhaiyi Zhang
a
;
Alison E. Wendlandt
a
;
Claudia Hö
;
bartner
c
;
David S. Watt
a
;
b
;
d
;
dwatt@uky.edu" class="auth_mail" title="E-mail the corresponding author
;
Stefan Stamm
a
;
stefan.stamm@uky.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Norcantharidin analogs
;
Protein
phosphatase-1 (PP1) inhibitors
;
Exon 7 inclusion
;
Alternative pre-mRNA splicing
;
SMN2
protein
刊名:Bioorganic & Medicinal Chemistry Letters
出版年:2016
5.
Imaging Flow Cytometry Analysis to Identify Differences of Survival Motor Neuron
Protein
Expression in Patients With Spinal Muscular Atrophy
作者:
Reiko Arakawa
;
MD
;
PhD
a
;
Masayuki Arakawa
;
PhD
b
;
Kaori Kaneko
;
MD
a
;
c
;
Noriko Otsuki
;
PhD
a
;
Ryoko Aoki
;
MHSc
a
;
Kayoko Saito
;
MD
;
PhD
a
;
c
;
saito.kayoko@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author
关键词:
survival motor neuron
protein
;
spinal muscular atrophy
;
imaging flow cytometry
;
peripheral blood analysis
刊名:Pediatric Neurology
出版年:2016
6.
Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina
作者:
Sofí
;
a Medrano
a
;
Soledad Monges
b
;
Luis Pablo Gravina
a
;
Laura Alí
;
as
c
;
g
;
Julieta Mozzoni
d
;
Hilda Veró
;
nica Ará
;
oz
a
;
Sara Bernal
c
;
g
;
Angé
;
lica Moresco
e
;
Lilien Chertkoff
a
;
h
;
Eduardo Tizzano
f
;
g
;
h
;
etizzano@vhebron.net" class="auth_mail" title="E-mail the corresponding author
关键词:
Spinal muscular atrophy (SMA)
;
Survival motor neuron 1 gene (SMN1)
;
Survival motor neuron 2 gene (
SMN2
)
;
Neuronal apoptosis inhibitory
protein
gene (NAIP)
;
Small EDRK-rich factor 1A (SERF1A)
;
Multiplex Ligation-dependent Probe Amplification (MLPA)
刊名:European Journal of Paediatric Neurology
出版年:2016
7.
Spinal muscular atrophy type III: Molecular genetic characterization of Turkish patients
作者:
Gamze Bora-Tatar
a
;
gamzeb@hacettepe.edu.tr" class="auth_mail" title="E-mail the corresponding author
;
Ayse Yesbek-Kaymaz
a
;
Can Ebru Bekircan-Kurt
b
;
Sevim Erdem-Ö
;
zdamar
b
;
Hayat Erdem-Yurter
a
关键词:
Spinal muscular atrophy type III
;
SMN1 gene
;
SMN2
gene copy number
;
NAIP gene
刊名:European Journal of Medical Genetics
出版年:2015
8.
hnRNP M facilitates exon 7 inclusion of
SMN2
pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7
作者:
Sunghee Cho
a
;
Heegyum Moon
a
;
Tiing Jen Loh
a
;
Huyn Kyung Oh
a
;
Sungchan Cho
b
;
Hyon E. Choy
c
;
Woo Keun Song
a
;
Jang-Soo Chun
a
;
Xuexiu Zheng
a
;
Haihong Shen
a
;
haihongshen@gist.ac.kr" class="auth_mail
关键词:
hnRNP M
;
Pre-mRNA splicing
;
Spinal muscular atrophy
;
SMN2
;
Exon 7
刊名:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
出版年:April, 2014
9.
Validation of trans-acting elements that promote exon 7 skipping of
SMN2
in SMN2-GFP stable cell line
作者:
Sunghee Cho
;
Heegyum Moon
;
Xiaoming Yang
;
Jianhua Zhou
;
Hye-Ran Kim
;
Myung-Geun Shin
;
Tiing Jen Loh
;
Xuexiu Zheng
;
Haihong Shen
关键词:
SMN1
;
SMN2
;
Spinal muscular atrophy
;
Splicing
;
Stable cell line
;
Trans-acting elements
刊名:Biochemical and Biophysical Research Communications
出版年:2012
10.
Effect of Combined Systemic and Local Morpholino Treatment on the Spinal Muscular Atrophy 螖7 Mouse Model Phenotype
作者:
Monica Nizzardo
;
PhD
1
;
Chiara Simone
;
PhD
1
;
Sabrina Salani
;
PhD
1
;
Marc-David Ruepp
;
PhD
2
;
Federica Rizzo
;
PhD
1
;
Margherita Ruggieri
;
PhD
1
;
Chiara Zanetta
;
MD
1
;
Simona Brajkovic
;
MD
1
;
Hong M. Moulton
;
PhD
3
;
Oliver Mü
;
ehlemann
;
PhD
2
;
Nereo Bresolin
;
MD
1
;
4
;
Giacomo P. Comi
;
MD
1
;
Stefania Corti
;
MD
;
PhD
1
;
*
;
stefania.corti@unimi.it" class="auth_mail
关键词:
morpholino oligomer
;
SMA螖7 mice
;
spinal muscular atrophy
;
survival motor neuron
;
therapy
刊名:Clinical Therapeutics
出版年:1 March, 2014
1
2
3
4
5
6
按检索点细分(59)
题名(7)
关键词(7)
文摘(51)
按出版年细分(59)
2027年及以后(2)
2017年(2)
2016年(4)
2015年(1)
2013年(7)
2012年(13)
2011年(7)
2010年(2)
2009年(3)
2008年(6)
2007年(1)
2006年(4)
2005年(1)
2004年(2)
2002年(1)
2001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
.