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CNKI期刊论文0611(1)
万方学位论文(2)
在“
Elsevier电子期刊
”中,
命中:
114
条,耗时:小于0.01 秒
在所有数据库中总计命中:
739
条
1.
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients
作者:
Lei Liu
a
;
Xiaobo Li
a
;
Zhengmao Hu
b
;
Xiao Mao
c
;
Xiaohong Zi
a
;
Kun Xia
b
;
Beisha Tang
b
;
c
;
Ruxu Zhang
a
;
zhangruxu@vip.163.com
关键词:
IGHMBP2
;
Autosomal recessive Charcot&ndash
;
Marie&ndash
;
Tooth type 2S (AR-
CMT2
S)
;
Spinal muscular atrophy with respiratory distress type I (SMARD1)
;
Gene panel testing
刊名:Neuromuscular Disorders
出版年:2017
2.
The RNAs of RNA-directed DNA methylation
作者:
Jered M. Wendte
a
;
Craig S. Pikaard
a
;
b
;
cpikaard@indiana.edu
关键词:
AGO1
;
ARGONAUTE 1
;
AGO2
;
ARGONAUTE 2
;
AGO4
;
ARGONAUTE 4
;
AGO6
;
ARGONAUTE 6
;
CLSY1
;
CLASSY 1
;
CMT2
;
CHROMOMETHYLASE 2
;
CMT
3
;
CHROMOMETHYLASE 3
;
CTD
;
carboxy-terminal domain
;
DCL1
;
DICER-LIKE 1
;
DCL2
;
DICER-LIKE 2
;
DCL3
;
DICER-LIKE 3
;
DCL4
;
DICER-LIKE 4
;
DDR
;
DRD1-DMS3-RDM1 complex
;
DMS11/ATMORC6
;
DEFECTIVE IN MERISTEM SILENCING 11/MICRORCHIDIA 6
;
DMS3
;
DEFECTIVE IN MERISTEM SILENCING 3
;
DNMT1
;
DNA METHYLTRANSFERASE 1
;
DNMT3
;
DNA METHYLTRANSFERASE 3
;
DRD1
;
DEFECTIVE IN RNA-DIRECTED DNA METHYLATION
刊名:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
出版年:2017
3.
Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene
作者:
Salvador Martí
;
a
;
1
;
Marian Leó
;
n
b
;
1
;
Carmen Orellana
c
;
Javier Prieto
b
;
Xavier Ponsoda
b
;
Carlos Ló
;
pez-Garcí
;
a
b
;
Juan Jesú
;
s Ví
;
lchez
d
;
e
;
Teresa Sevilla
d
;
e
;
Josema Torres
b
;
josema.torres@uv.es
刊名:Stem Cell Research
出版年:2017
4.
Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation
作者:
Chloé
;
Di Meglio
a
;
Chloe.DI-MEGLIO@ap-hm.fr" class="auth_mail" title="E-mail the corresponding author
;
Nathalie Bonello-Palot
b
;
Christophe Boulay
a
;
Mathieu Milh
a
;
Caroline Ovaert
c
;
Nicolas Levy
b
;
d
;
Brigitte Chabrol
a
关键词:
Charcot&ndash
;
Marie&ndash
;
Tooth (
CMT
)
;
Mitofusin 2 (MFN2)
;
Neuropathy
;
Optic atrophy
;
White matter lesion
;
Subacute polyneuropathy
;
Respiratory chain deficiency
刊名:Brain and Development
出版年:2016
5.
ID 270 - Nerve ultrasound findings in
cmt
neuropathy
作者:
L. Padua
a
;
b
;
C. Pazzaglia
b
;
D. Coraci
c
;
M. Lucchetta
d
;
I. Paolasso
b
;
G. Granata
a
;
M. Cacciavillani
e
;
M. Luigetti
a
;
F. Manganelli
f
;
D. Pareyson
g
;
C. Briani
d
刊名:Clinical Neurophysiology
出版年:2016
6.
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience
作者:
Marco Luigetti
a
;
mluigetti@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Gian Maria Fabrizi
b
;
Giulia Bisogni
a
;
Angela Romano
a
;
Federica Taioli
b
;
Moreno Ferrarini
b
;
Daniela Bernardo
a
;
Paolo Maria Rossini
a
;
c
;
Mario Sabatelli
a
;
d
关键词:
Charcot-Marie-Tooth (
CMT
)
;
Distal hereditary motor neuropathy (dHMN)
;
CMT2
/dHMN
;
Neuropathy
;
Neurophysiology
;
Clinical phenotype
刊名:Clinical Neurology and Neurosurgery
出版年:2016
7.
The cytoskeleton as a novel therapeutic target for old neurodegenerative disorders
作者:
Jessica Eira
a
;
b
;
Catarina Santos Silva
a
;
b
;
Mó
;
nica Mendes Sousa
b
;
c
;
Má
;
rcia Almeida Liz
a
;
b
;
maliz@ibmc.up.pt" class="auth_mail" title="E-mail the corresponding author
关键词:
6-OHDA
;
6-hydroxydopamine
;
ABP
;
actin binding protein
;
AD
;
Alzheimer&rsquo
;
s disease
;
ALS
;
amyotrophic lateral sclerosis
;
APP
;
amyloid precursor protein
;
Aβ
;
amyloid-β
;
Cdk5
;
cyclin-dependent kinase 5
;
CMT
;
Charcot-Marie-Tooth disease
;
CMT2
;
Charcot-Marie-Tooth disease type 2
;
CRMP-2
;
collapsin response mediator protein 2
;
Epo
;
Depothilone D
;
GSK3β
;
glycogen synthase kinase 3β
;
HD
;
Huntington disease
;
HDAC6
;
histone deacetylase 6
;
HSP
;
hereditary spastic paraplegia
;
KIF
;
kinesin superfamily
;
LKE
刊名:Progress in Neurobiology
出版年:2016
8.
Nerve ultrasound in
CMT2
E/CMT1F due to NEFL mutation: Confirmation of an axonal pathology
作者:
Marco Luigetti
;
mluigetti@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Luca Padua
刊名:Clinical Neurophysiology
出版年:2016
9.
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
作者:
Christeen Ramane J. Pedurupillay
a
;
b
;
1
;
Silja S. Amundsen
a
;
1
;
Tuva Barø
;
y
a
;
b
;
1
;
Magnhild Rasmussen
c
;
d
;
Anne Blomhoff
a
;
Barbro Fossø
;
y Stadheim
a
;
Kristin Ø
;
rstavik
e
;
Asbjø
;
rn Holmgren
a
;
Tahir Iqbal
f
;
Eirik Frengen
a
;
b
;
Doriana Misceo
a
;
b
;
Petter Strø
;
mme
b
;
c
;
petter.stromme@medisin.uio.no" class="auth_mail" title="E-mail the corresponding author
关键词:
Axonal polyneuropathy
;
CMT2
S
;
IGHMBP2
;
SMARD1
;
Spinal muscular atrophy
刊名:Neuromuscular Disorders
出版年:2016
10.
Analysis of mitochondrial structure and function in the Drosophila larval musculature
作者:
Zong-Heng Wang
a
;
Cheryl Clark
b
;
Erika R. Geisbrecht
a
;
b
;
geisbrechte@ksu.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
ATP
;
adenosine triphosphate
;
AEL
;
after egg laying
;
CMT2
A
;
Charcot&ndash
;
Marie&ndash
;
Tooth Type 2A
;
ConA
;
concanavalin A
;
Drp1
;
dynamin-related protein
;
DOA
;
dominant optic atrophy
;
GFP
;
green fluorescent protein
;
IFM
;
indirect flight muscle
;
IMF
;
intermyofibrillar
;
IMM
;
inner mitochondrial membrane
;
LRRK2
;
leucine-rich repeat kinase 2
;
L3
;
third instar larvae
;
ΔΨm
;
mitochondrial membrane potential
;
mtDNA
;
mitochondrial DNA
;
Mfn1
;
mitofusin 1
;
Mfn2
;
mitofusin 2
;
Opa1
;
optic atrophy 1
;
OMM
;
outer
刊名:Mitochondrion
出版年:2016
1
2
3
4
5
6
7
8
9
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