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Wiley电子期刊(7)
NATURE电子期刊(8)
Elsevier电子期刊(418)
SpringerLink电子期刊(207)
GSW全文库(2)
ACS电子期刊(64)
在“
Elsevier电子期刊
”中,
命中:
418
条,耗时:0.0119901 秒
在所有数据库中总计命中:
706
条
1.
Voice Alterations in Patients With Spinocerebellar Ataxia Type 7 (SCA7): Clinical-Genetic Correlations
作者:
Annel Gó
;
mez-Coello
*
;
Victor Manuel Valadez-Jimé
;
nez
*
;
vicman71@hotmail.com
;
Bulmaro Cisneros
&dagger
;
;
Paul Carrillo-Mora
&Dagger
;
;
Martha Parra-Cá
;
rdenas
§
;
;
Oscar Herná
;
ndez-Herná
;
ndez
‖
;
Jonathan J. Magañ
;
a
‖
;
maganasm@hotmail.com
;
jmagana@inr.gob.mx
关键词:
Spinocerebellar ataxia type 7 (SCA7)
;
CAG
repeat
s
;
Shimmer
;
Jitter
;
Fundamental frequency
刊名:Journal of Voice
出版年:2017
2.
A matter of hand: Causal links between hand dominance, structural organization of fronto-parietal attention networks, and variability in behavioural responses to transcranial magnetic stimulation
作者:
Dario Cazzoli
a
;
Magdalena Chechlacz
b
;
magdalena.chechlacz@psy.ox.ac.uk
关键词:
Individual differences
;
Continuous theta burst stimulation
;
Superior longitudinal fasciculus
;
Visual attention
;
Spatial bias
刊名:Cortex
出版年:2017
3.
RNA FISH for detecting expanded
repeat
s in human diseases
作者:
Martyna O. Urbanek
;
Wlodzimierz J. Krzyzosiak
;
wlodkrzy@ibch.poznan.pl" class="auth_mail" title="E-mail the corresponding author
关键词:
DM
;
myotonic dystrophy
;
HD
;
Huntington&rsquo
;
s disease
;
SCA
;
spinocerebellar ataxia
;
DRPLA
;
dentatorubral-pallidoluysian atrophy
;
HDL2
;
Huntington disease-like 2
;
ALS/FTD
;
amyotrophic lateral sclerosis/frontotemporal dementia
;
FXTAS
;
fragile X-associated tremor/ataxia syndrome
;
TREDs
;
triplet
repeat
expansion diseases
;
MBNL1
;
muscleblind-like 1
;
DMPK
;
dystrophia myotonica protein kinase
;
FISH
;
fluorescence in situ hybridization
;
IF
;
immunofluorescence
;
LNA
;
locked nucleic acids
;
PNA
;
peptide nuc
刊名:Methods
出版年:2016
4.
CGG
Repeat
-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations
作者:
Urszula Brykczynska
1
;
Eline Pecho-Vrieseling
1
;
Anke Thiemeyer
1
;
Jessica Klein
1
;
Isabelle Fruh
1
;
Thierry Doll
1
;
Carole Manneville
1
;
Sascha Fuchs
1
;
Mariavittoria Iazeolla
1
;
Martin Beibel
1
;
Guglielmo Roma
1
;
Ulrike Naumann
1
;
Nicholas Kelley
1
;
Edward J. Oakeley
1
;
Matthias Mueller
1
;
Baltazar Gomez-Mancilla
1
;
Marc Bü
;
hler
2
;
3
;
Elisabetta Tabolacci
4
;
Pietro Chiurazzi
4
;
Giovanni Neri
4
;
Tewis Bouwmeester
1
;
Francesco Paolo Di Giorgio
1
;
francesco.di_giorgio@novartis.com
;
Barna D. Fodor
1
;
barna.fodor@novartis.com
关键词:
fragile X syndrome
;
unmethylated full mutation
;
DNA methylation
;
triplet
expansion
;
fragile X tremor ataxia syndrome
;
neuron
;
ubiquitin inclusion
;
FMR1
;
CGG
repeat
;
de novo silencing
刊名:Stem Cell Reports
出版年:2016
5.
Expansión del
triplet
e citosina-guanina-guanina: 3 casos de síndrome OMIM en una misma familia
作者:
Jesú
;
s Gonzá
;
lez-Pé
;
rez
a
;
jesusgonpe@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Silvia Izquierdo-Á
;
lvarez
b
;
Cristina Fuertes-Rodrigo
a
;
Lorena Monge-Galindo
a
;
José
;
Luis Peñ
;
a-Segura
a
;
Francisco Javier Ló
;
pez-Pisó
;
n
a
关键词:
Sí
;
ndrome de X-frá
;
gil
;
Insuficiencia ová
;
rica primaria asociada al sí
;
ndrome de X-frá
;
gil
;
Sí
;
ndrome de temblor-ataxia asociado al sí
;
ndrome de X-frá
;
gil
;
Triplet
repeat
primer-polymerase chain reaction
;
Interrupciones Adenina-Guanina-Guanina
;
Discapacidad intelectual
;
Deleció
;
n 1q21.1.
刊名:Medicina Clínica
出版年:2016
6.
Conformational modulation mediated by polyglutamine expansion in CAG
repeat
expansion disease-associated proteins
作者:
Margherita Verani
a
;
b
;
Maria Bustamante
b
;
Paola Martufi
b
;
Manuel Daldin
b
;
Cristina Cariulo
b
;
Lucia Azzollini
a
;
b
;
Valentina Fodale
a
;
b
;
Francesca Puglisi
b
;
Andreas Weiss
a
;
2
;
Douglas Macdonald
c
;
Lara Petricca
a
;
b
;
1
;
Andrea Caricasole
a
;
b
;
1
;
3
;
a.caricasole@irbm.it" class="auth_mail" title="E-mail the corresponding author
关键词:
Huntingtin
;
Polyglutamine
;
Conformation
;
Neurodegeneration
;
TR&ndash
;
FRET assay
;
CAG
repeat
刊名:Biochemical and Biophysical Research Communications
出版年:2016
7.
Replication stalling and heteroduplex formation within CAG/CTG trinucleotide
repeat
s by mismatch repair
作者:
David Viterbo
a
;
b
;
c
;
Gré
;
goire Michoud
d
;
Valentine Mosbach
a
;
b
;
c
;
Bernard Dujon
a
;
b
;
c
;
Guy-Franck Richard
a
;
b
;
c
;
gfrichar@pasteur.fr" class="auth_mail" title="E-mail the corresponding author
关键词:
Replication pause
;
Trinucleotide
repeat
s
;
Mismatch repair
;
Heteroduplex
刊名:DNA Repair
出版年:2016
8.
The Saccharomyces cerevisiae Mre11-Rad50-Xrs2 complex promotes trinucleotide
repeat
expansions independently of homologous recombination
作者:
Yanfang Ye
a
;
c
;
Lucy Kirkham-McCarthy
a
;
b
;
Robert S. Lahue
a
;
b
;
bob.lahue@nuigalway.ie" class="auth_mail" title="E-mail the corresponding author
关键词:
TNR
;
trinucleotide
repeat
;
MRX
;
Mre11-Rad50-Xrs2 complex
;
HR
;
homologous recombination
;
YPD
;
yeast extract-peptone-dextrose
;
SC
;
synthetic complete
;
AcK
;
acetyl lysine
;
K to R
;
lysine to arginine substitution mutant
;
MRN
;
Mre11-Rad50-Nbs1 complex
;
SEM
;
standard error of the mean
刊名:DNA Repair
出版年:2016
9.
Late onset Huntington's disease with 29 CAG
repeat
expansion
作者:
Pedro J. Garcia-Ruiz
a
;
pgarcia@fjd.es" class="auth_mail" title="E-mail the corresponding author
;
pgarciare@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Juan Garcia-Caldentey
a
;
Cici Feliz
a
;
Javier del Val
a
;
Antonio Herranz
a
;
Juan Carlos Martí
;
nez-Castrillo
b
关键词:
Late onset
;
Huntington's disease
;
intermediated alleles
刊名:Journal of the Neurological Sciences
出版年:2016
10.
Application of DNA-based forensic analysis for the detection of homologous transfusion of whole blood and of red blood cell concentrates in doping control
作者:
Alessandra Stampella
a
;
Sabrina Di Marco
a
;
Daniela Pirri
a
;
Xavier de la Torre
a
;
Francesco Botrè
;
a
;
b
;
francesco.botre@uniroma1.it" class="auth_mail" title="E-mail the corresponding author
;
Francesco Donati
a
关键词:
Homologous blood transfusion
;
Blood doping
;
Doping analysis
;
Red blood cells concentrates
;
DNA typing
;
Short tandem
repeat
s
刊名:Forensic Science International
出版年:2016
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