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内部出版物
在“
Elsevier电子期刊
”中,
命中:
83
条,耗时:小于0.01 秒
1.
Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of
PSEN2
variants
作者:
Cornelis Blauwendraat
a
;
Carlo Wilke
b
;
c
;
Iris E. Jansen
d
;
e
;
Claudia Schulte
b
;
c
;
Javier Simó
;
n-Sá
;
nchez
b
;
e
;
Florian G. Metzger
f
;
Benjamin Bender
g
;
Thomas Gasser
b
;
c
;
Walter Maetzler
b
;
c
;
Patrizia Rizzu
a
;
Peter Heutink
b
;
d
;
e
;
Matthis Synofzik
b
;
c
;
matthis.synofzik@uni-tuebingen.de" class="auth_mail" title="E-mail the corresponding author
关键词:
Early-onset dementia
;
Alzheimer's disease
;
Frontotemporal dementia
;
Volga German N141I
;
PSEN2
;
Exome sequencing
刊名:Neurobiology of Aging
出版年:2016
2.
A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease
作者:
Yihong Zhan
a
;
1
;
Honghua Zheng
b
;
c
;
1
;
honghua@xmu.edu.cn
;
Chen Wang
a
;
1
;
Zhouyi Rong
b
;
Naian Xiao
a
;
Qilin Ma
a
;
qilinma@yeah.net
;
Yun-wu Zhang
b
;
yunzhang@xmu.edu.cn
关键词:
PSEN1 mutation
;
Early-onset Alzheimer's disease
;
Chinese family
刊名:Neurobiology of Aging
出版年:2017
3.
Evaluating pathogenic dementia variants in posterior cortical atrophy
作者:
Minerva M. Carrasquillo
a
;
1
;
Imelda Barber
b
;
1
;
Sarah J. Lincoln
a
;
Melissa E. Murray
a
;
Gamze Balci Camsari
c
;
Qurat ul Ain. Khan
c
;
Thuy Nguyen
a
;
Li Ma
a
;
Gina D. Bisceglio
a
;
Julia E. Crook
d
;
Steven G. Younkin
a
;
Dennis W. Dickson
a
;
Bradley F. Boeve
e
;
Neill R. Graff-Radford
c
;
Kevin Morgan
b
;
Nilü
;
fer Ertekin-Taner
a
;
c
;
taner.nilufer@mayo.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
PCA
;
Posterior Alzheimer's disease
;
Dementia
;
APOE
;
TREM2
;
PSEN2
;
NeuroX
刊名:Neurobiology of Aging
出版年:2016
4.
Restricted Location of
PSEN2
/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool
作者:
Ragna Sannerud
1
;
2
;
Cary Esselens
1
;
2
;
Paulina Ejsmont
1
;
2
;
Rafael Mattera
3
;
Leila Rochin
4
;
5
;
Arun Kumar Tharkeshwar
1
;
2
;
Greet De Baets
6
;
7
;
Veerle De Wever
7
;
Roger Habets
8
;
Veerle Baert
1
;
2
;
Wendy Vermeire
1
;
2
;
Christine Michiels
1
;
2
;
Arjan J. Groot
8
;
Rosanne Wouters
1
;
2
;
Katleen Dillen
1
;
2
;
Katlijn Vints
9
;
Pieter Baatsen
9
;
Sebastian Munck
9
;
Rita Derua
7
;
Etienne Waelkens
7
;
Guriqbal S. Basi
10
;
Mark Mercken
11
;
Marc Vooijs
8
;
Mathieu Bollen
7
;
Joost Schymkowitz
6
;
7
;
Frederic Rousseau
6
;
7
;
Juan S. Bonifacino
3
;
Guillaume Van Niel
4
;
5
;
Bart De Strooper
1
;
2
;
12
;
Wim Annaert
1
;
2
;
wim.annaert@cme.vib-kuleuven.be" class="auth_mail" title="E-mail the corresponding author
刊名:Cell
出版年:2016
5.
Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer’s disease
作者:
Andrea Tedde
a
;
Antonella Bartoli
b
;
Irene Piaceri
a
;
Sara Ferrara
b
;
Silvia Bagnoli
a
;
Antonio Serio
b
;
Sandro Sorbi
a
;
Benedetta Nacmias
a
;
nacmias@unifi.it" class="auth_mail" title="E-mail the corresponding author
关键词:
DNA
;
Alzheimer&rsquo
;
s disease
;
PSEN1
;
PSEN2
;
APP
刊名:Neuroscience Letters
出版年:2016
6.
Identification of
PSEN2
mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease
作者:
Carolina Muchnik
a
;
Natividad Olivar
b
;
Marí
;
a Carolina Dalmasso
c
;
Pablo Javier Azurmendi
a
;
Cynthia Liberczuk
b
;
Laura Morelli
c
;
Luis Ignacio Brusco
a
;
b
;
bruscouba@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Alzheimer's disease
;
Presenilin
;
Mutation
;
Volga German
;
South America
;
Dementia
刊名:Neurobiology of Aging
出版年:2015
7.
Probable novel
PSEN2
Pro123Leu mutation in a Chinese Han family of Alzheimer's disease
作者:
Mingrong Xia
a
;
1
;
Shuai Chen
a
;
1
;
Yingying Shi
a
;
Yue Huang
a
;
Junling Xu
b
;
Ting Zhao
a
;
Shuang He
a
;
Yingying Wu
a
;
Changshui Xu
a
;
Weizhou Zang
a
;
zangweizhou@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Jiewen Zhang
a
;
zhangjiewen9900@126.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Alzheimer's disease
;
PSEN2
;
P123L mutation
;
Positron emission tomography
;
ASL
刊名:Neurobiology of Aging
出版年:2015
8.
Identification of common therapeutic targets for selected neurodegenerative disorders: An in silico approach
作者:
K. Ahmad
a
;
1
;
M.H. Baig
b
;
1
;
mohdhassanbaig@gmail.com
Author Vitae
;
Girish Kumar Gupta
c
Author Vitae
;
M.A. Kamal
d
Author Vitae
;
Neelam Pathak
a
;
I. Choi
b
;
inhochoi@ynu.ac.kr
Author Vitae
关键词:
AD
;
Alzheimer&rsquo
;
s disease
;
PD
;
Parkinson&rsquo
;
s disease
;
ALS
;
amyotrophic lateral sclerosis
;
HD
;
Huntington's disease
;
DRPLA
;
Dentatorubral-pallidoluysian atrophy
;
NDs
;
neurodegenerative diseases
刊名:Journal of Computational Science
出版年:2016
9.
A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences
作者:
Yat-Fung Shea
a
;
syf321@ha.org.hk" class="auth_mail" title="E-mail the corresponding author
;
Leung-Wing Chu
a
;
b
;
Angel On-Kei Chan
c
;
Joyce Ha
a
;
Yan Li
d
;
You-Qiang Song
e
关键词:
amyloid precursor protein
;
autosomal dominant
;
familial Alzheimer's disease
;
presenilin-1
;
presenilin-2
刊名:Journal of the Formosan Medical Association
出版年:2016
10.
Epigenetic signatures of childhood abuse and neglect: Implications for psychiatric vulnerability
作者:
Charlotte A.M. Cecil
a
;
1
;
charlotte.cecil@kcl.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Rebecca G. Smith
a
;
b
;
1
;
Esther Walton
a
;
c
;
Jonathan Mill
a
;
c
;
Eamon J. McCrory
d
;
2
;
Essi Viding
d
;
2
关键词:
DNA Methylation
;
Epigenome-wide
;
Child abuse
;
Neglect
;
Maltreatment
;
Stress
刊名:Journal of Psychiatric Research
出版年:2016
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2
3
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5
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