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SpringerLink电子期刊(5)
NATURE电子期刊(1)
Elsevier电子期刊(21)
在“
Elsevier电子期刊
”中,
命中:
21
条,耗时:小于0.01 秒
在所有数据库中总计命中:
27
条
1.
Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia
作者:
Joseph E. Rittiner
1
;
11
;
Zachary F. Caffall
1
;
11
;
Ricardo Herná
;
ndez-Martinez
1
;
Sydney M. Sanderson
1
;
James L. Pearson
3
;
4
;
Kaylin K. Tsukayama
1
;
Anna Y. Liu
1
;
Changrui Xiao
1
;
Samantha Tracy
1
;
Miranda K. Shipman
1
;
Patrick Hickey
1
;
Julia Johnson
1
;
Burton Scott
1
;
Mark Stacy
1
;
Rachel Saunders-Pullman
6
;
7
;
Susan Bressman
6
;
7
;
Kristina Simonyan
7
;
8
;
Nutan Sharma
9
;
10
;
Laurie
J.
Ozelius
9
;
10
;
Elizabeth T. Cirulli
3
;
5
;
Nicole Calakos
1
;
2
;
12
;
nicole.calakos@dm.duke.edu
关键词:
dystonia
;
stress signaling
;
regulation of translation
刊名:Neuron
出版年:2016
2.
Neuropsychiatric characteristics of GBA-associated Parkinson disease
作者:
Matthew Swan
;
MD
a
;
b
;
1
;
matthew.c.swan@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
matswan@montefiore.org" class="auth_mail" title="E-mail the corresponding author
;
Nancy Doan
a
;
2
;
Robert A. Ortega
;
MS
a
;
2
;
Matthew Barrett
;
MD
c
;
3
;
MJB5T@hscmail.mcc.virginia.edu" class="auth_mail" title="E-mail the corresponding author
;
William Nichols
;
PhD
d
;
4
;
bill.nichols@cchmc.org" class="auth_mail" title="E-mail the corresponding author
;
Laurie
Ozelius
;
PhD
e
;
5
;
l
ozelius
@partners.org" class="auth_mail" title="E-mail the corresponding author
;
Jeannie Soto-Valencia
;
BA
a
;
2
;
Sarah Boschung
;
BSN
a
;
2
;
Andres Deik
;
MD
a
;
Andres.DeikAcostaMadiedo@uphs.upenn.edu" class="auth_mail" title="E-mail the corresponding author
;
Harini Sarva
;
MD
a
;
sarvaharini@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Jose Cabassa
;
MD
a
;
jose.c.cabassa@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Brooke Johannes
;
MSc
;
MS
;
CGC
a
;
2
;
Deborah Raymond
;
MS
;
CGC
a
;
2
;
Karen Marder
;
MD
;
MPH
f
;
6
;
ksm1@columbia.edu" class="auth_mail" title="E-mail the corresponding author
;
Nir Giladi
;
MD
g
;
nirg@tlvmc.gov.il" class="auth_mail" title="E-mail the corresponding author
;
Joan Miravite
;
FNP
a
;
2
;
William Severt
;
MD
;
PhD
a
;
2
;
Rivka Sachdev
;
MD
a
;
2
;
Vicki Shanker
;
MD
a
;
2
;
Susan Bressman
;
MD
a
;
2
;
Rachel Saunders-Pullman
;
MD
;
MPH
a
;
2
;
RSaunder@chpnet.org" class="auth_mail" title="E-mail the corresponding author
关键词:
Parkinson disease
;
Glucocerebrosidase
;
GBA1
;
Depression
;
Anxiety
刊名:Journal of the Neurological Sciences
出版年:2016
3.
Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet
作者:
Adriana Ulate-Campos
;
MD
a
;
aulate@hsjdbcn.org" class="auth_mail
;
Carmen Fons
;
MD
;
PhD
b
;
Rafael Artuch
;
MD
;
PhD
c
;
Esperanza Castejó
n ;
MD
d
;
Loreto Martorell
;
MD
;
PhD
e
;
Laurie
Ozelius
;
MD
;
PhD
f
;
Juan Pascual
;
MD
;
PhD
g
;
Jaume Campistol
;
MD
;
PhD
b
关键词:
alternating hemiplegia of childhood
;
ATP1A3
;
GLUT1 deficiency syndrome
;
GLUT1 DS
;
SLC2A1
;
ketogenic diet
刊名:Pediatric Neurology
出版年:April, 2014
4.
Distinct neurological disorders with ATP1A3 mutations
作者:
Dr Erin L Heinzen
;
PhD
a
;
b
;
e.heinzen@duke.edu" class="auth_mail
;
Alexis Arzimanoglou
;
MD
f
;
g
;
Prof Allison Brashear
;
MD
h
;
Steven J Clapcote
;
PhD
i
;
Prof Fiorella Gurrieri
;
PhD
j
;
Prof David B Goldstein
;
PhD
a
;
c
;
Sigurð
;
ur H Jó
;
hannesson
k
;
Prof Mohamad A Mikati
;
MD
d
;
e
;
Prof Brian Neville
;
MB BS
l
;
Sophie Nicole
;
PhD
m
;
n
;
o
;
Laurie
J
Ozelius
;
PhD
p
;
Hanne Poulsen
;
PhD
q
;
r
;
Tsveta Schyns
;
PhD
s
;
Kathleen J Sweadner
;
PhD
t
;
Prof Arn van den Maagdenberg
;
PhD
u
;
Prof Bente Vilsen
;
DMSc
v
;
for the ATP1A3 Working Group
刊名:Lancet Neurology
出版年:May, 2014
5.
Genetic variability in the cholesteryl ester transfer protein (CETP) gene may buffer the effect of APOE-¦Å4 on incidence of amnestic mild cognitive impairment (aMCI): Results for the Einstein Aging Study (EAS)
作者:
Richard Lipton
;
Cuiling Wang
;
Mindy Katz
;
Molly Zimmerman
;
Carol Derby
;
Joe Verghese
;
Amy S
;
ers
;
Laurie
Ozelius
;
Nir Barzilai
刊名:Alzheimer's Dementia
出版年:2012
6.
Clinical spectrum of disease associated with ATP1A3 mutations
作者:
Laurie
J
Ozelius
刊名:Lancet Neurology
出版年:2012
7.
Substantia nigra hyperechogenicity in DYT6 dystonia: A pilot study
作者:
Rachel Saunders-Pullman
;
Kaili Stanley
;
Norbert Brü
;
ggemann
;
Deborah Raymond
;
Marta San Luciano
;
Cuiling Wang
;
Christine Klein
;
Naomi Lubarr
;
Laurie
Ozelius
;
Susan B. Bressman
;
Johann Hagenah
关键词:
DYT6
dystonia
;
Transcranial sonography
;
Ultrasonography
;
Hyperechogenicity
;
Substantia nigra
刊名:Parkinsonism and Related Disorders
出版年:2010
8.
Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus–dystonia syndrome
作者:
Alexis M. Kuncel
;
Dennis A. Turner
;
Laurie
J.
Ozelius
;
Paul E. Greene
;
Warren M. Grill
;
Mark A. Stacy
关键词:
Stimulation frequency
;
Stimulation amplitude
;
Epsilon-sarcoglycan gene
;
Thalamus
;
Movement disorders
刊名:Clinical Neurology and Neurosurgery
出版年:2009
9.
Mutations in THAP1 (DYT6)
作者:
Susan B Bressman
;
Deborah Raymond
;
Tania Fuchs
;
Gary A Heiman
;
Laurie
J
Ozelius
;
Rachel Saunders-Pullman
刊名:Lancet Neurology
出版年:2009
10.
[
123
I]-FP-CIT and [
99m
Tc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia–parkinsonism
作者:
Paolo Zanotti-Fregonara
;
Marie Vidailhet
;
Auré
;
lie Kas
;
Laurie
J.
Ozelius
;
Fabienne Clot
;
Elif Hindié
;
Laura Ravasi
;
Jean-Yves Devaux
;
Emmanuel Roze
关键词:
Rapid-onset dystonia-parkinsonism
;
[
123
I]-FP-CIT
;
[
99m
Tc]-HMPAO
刊名:Journal of the Neurological Sciences
出版年:2008
1
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