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SpringerLink电子期刊(21)
NATURE电子期刊(2)
Elsevier电子期刊(24)
在“
Elsevier电子期刊
”中,
命中:
24
条,耗时:0.0179941 秒
在所有数据库中总计命中:
47
条
1.
Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis
作者:
Fang Liu
a
;
b
;
1
;
Qing Liu
b
;
c
;
1
;
Chao Xia Lu
a
;
b
;
Bo Cui
b
;
c
;
Xia Nan Guo
a
;
b
;
Rong Rong Wang
a
;
b
;
Ming Sheng Liu
b
;
c
;
Xiao Guang Li
b
;
c
;
Li-ying Cui
b
;
c
;
Xue Zhang
a
;
b
;
c
;
xuezhang@pumc.edu.cn" class="auth_mail" title="E-mail the corresponding author
关键词:
Amyotrophic lateral sclerosis
;
C9orf72
;
GGGGC
C
hexanucleotide
repeat
expansion
;
Splice site mutation
;
Loss-of-function
刊名:Neurobiology of Aging
出版年:2016
2.
Large C9orf72
repeat
expansion
s are seen in Chinese patients with sporadic amyotrophic lateral sclerosis
作者:
Yongping Chen
1
;
Ziqiang Lin
1
;
Xueping Chen
1
;
Bei Cao
;
Qianqian Wei
;
Ruwei Ou
;
Bi Zhao
;
Wei Song
;
Ying Wu
;
Hui-Fang Shang
;
hfshang2002@163.com" class="auth_mail" title="E-mail the corresponding author
关键词:
C9orf72
;
Amyotrophic lateral sclerosis
;
Haplotype analysis
;
Southern blotting
;
Cognitive impairment
;
Meta-analysis
;
Chinese population
刊名:Neurobiology of Aging
出版年:2016
3.
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72
GGGGC
C
expansion
作者:
Adriano Chiò
;
a
;
b
;
achio@usa.net" class="auth_mail" title="E-mail the corresponding author
;
Gabriele Mora
c
;
Mario Sabatelli
d
;
Claudia Caponnetto
e
;
Christian Lunetta
f
;
Bryan J. Traynor
g
;
Janel O. Johnson
g
;
h
;
Mike A. Nalls
i
;
Andrea Calvo
a
;
b
;
Cristina Moglia
a
;
Giuseppe Borghero
j
;
Francesca Trojsi
k
;
Vincenzo La Bella
l
;
Paolo Volanti
m
;
Isabella Simone
n
;
Fabrizio Salvi
o
;
Francesco O. Logullo
p
;
Nilo Riva
q
;
Paola Carrera
r
;
Fabio Giannini
s
;
Jessica Mandrioli
t
;
Raffaella Tanel
u
;
Margherita Capasso
v
;
Lucio Tremolizzo
w
;
Stefania Battistini
s
;
Maria Rita Murru
x
;
Paola Origone
e
;
Marcella Zollino
y
;
Silvana Penco
z
;
ITALSGEN consortium
1
关键词:
Amyotrophic lateral sclerosis
;
Phenotype
;
ATXN2
;
C9ORF72
刊名:Neurobiology of Aging
出版年:2016
4.
C9ORF72
hexanucleotide
repeat
expansion
in ALS patients from the Central European Russia population
作者:
Natalya Y. Abramycheva
a
;
Elena V. Lysogorskaia
a
;
Maria S. Stepanova
a
;
Maria N. Zakharova
a
;
Elena A. Kovrazhkina
b
;
Olga D. Razinskaya
b
;
Andrey P. Smirnov
b
;
Andrey V. Maltsev
c
;
Alexey A. Ustyugov
c
;
d
;
Michail S. Kukharsky
c
;
Inna V. Khritankova
c
;
Sergey O. Bachurin
c
;
Johnathan Cooper-Knock
e
;
Vladimir L. Buchman
d
;
Sergey N. Illarioshkin
a
;
Veronika I. Skvortsova
b
;
Natalia Ninkina
c
;
d
;
ninkinan@cf.ac.uk" class="auth_mail" title="E-mail the corresponding author
关键词:
Amyotrophic lateral sclerosis
;
Mutation
;
Repeat
expansion
刊名:Neurobiology of Aging
出版年:2015
5.
Identification of C9orf72
repeat
expansion
s in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China
作者:
Bin Jiao
;
Beisha Tang
;
Xiaoyan Liu
;
Xinxiang Yan
;
Lin Zhou
;
Yi Yang
;
Junling Wang
;
Kun Xia
;
Lu Shen
关键词:
Amyotrophic lateral sclerosis
;
Frontotemporal dementia
;
C9orf72
;
Hexanucleotide
repeat
s
;
Risk haplotype
刊名:Neurobiology of Aging
出版年:April, 2014
6.
Analysis of the C9orf72
hexanucleotide
repeat
expansion
in Korean patients with familial and sporadic amyotrophic lateral sclerosis
作者:
Ja-Hyun Jang
a
;
1
;
Min-Jung Kwon
b
;
1
;
Won Jun Choi
c
;
d
;
Ki-Wook Oh
c
;
d
;
Seong-Ho Koh
c
;
d
;
Chang-Seok Ki
a
;
changski@skku.edu
;
Seung Hyun Kim
c
;
d
;
kimsh1@hanyang.ac.kr
关键词:
Amyotrophic lateral sclerosis
;
C9orf72
;
Hexanucleotide
repeat
;
Korean
刊名:Neurobiology of Aging
出版年:2013
7.
Polymerase chain reaction and Southern blot-based analysis of the C9orf72
hexanucleotide
repeat
in different motor neuron diseases
作者:
Annemarie H眉bers
;
Nicolai Marroquin
;
Birgit Schmoll
;
Stefan Vielhaber
;
Marlies Just
;
Benjamin Mayer
;
Josef H枚gel
;
Johannes Dorst
;
Thomas Mertens
;
Walter Just
;
Anna Aulitzky
;
Verena Wais
;
Albert C. Ludolph
;
Christian Kubisch
;
Jochen H. Weishaupt
;
Alex
;
er E. Volk
关键词:
C9orf72
;
Motor neuron diseases
;
Amyotrophic lateral sclerosis
;
Immortalized cell lines
刊名:Neurobiology of Aging
出版年:May, 2014
8.
Screening for C9orf72
repeat
expansion
s in parkinsonian syndromes
作者:
Tu-Hsueh Yeh
a
;
b
;
Szu-Chia Lai
a
;
b
;
Yi-Hsin Weng
a
;
b
;
Hung-Chou Kuo
c
;
Yah-Huei Wu-Chou
b
;
d
;
Chia-Ling Huang
e
;
Rou-Shayn Chen
a
;
b
;
Hsiu-Chen Chang
a
;
b
;
Bryan Traynor
f
;
Chin-Song Lu
a
;
b
;
c81214@adm.cgmh.org.tw
关键词:
C9orf72
;
GGGGC
C
hexanucleotide
repeat
expansion
;
Frontotemporal dementia (FTD)
;
Parkinson's disease with dementia (PDD)
;
Progressive supranuclear palsy (PSP)
;
Corticobasal syndrome (CBS)
;
Dementia with Lewy bodies (DLB)
刊名:Neurobiology of Aging
出版年:2013
9.
Analysis of the C9orf72
repeat
in Parkinson's disease, essential tremor and restless legs syndrome
作者:
Mariely DeJesus-Hernandez
a
;
1
;
Sruti Rayaprolu
a
;
1
;
Alexandra I. Soto-Ortolaza
a
;
Nicola J. Rutherford
a
;
Michael G. Heckman
b
;
Sharleen Traynor
c
;
Audrey Strongosky
c
;
Neill Graff-Radford
c
;
Jay Van Gerpen
c
;
Ryan J. Uitti
c
;
Jerry J. Shih
c
;
Siong-Chi Lin
d
;
Zbigniew K. Wszolek
c
;
Rosa Rademakers
a
;
Owen A. Ross
a
;
ross.owen@mayo.edu
关键词:
C9orf72
;
Expanded
repeat
;
PD
;
ET
;
RLS
;
Genetic association
刊名:Parkinsonism and Related Disorders
出版年:2013
10.
Mutational analysis in early-onset familial Alzheimer's disease in聽Mainland China
作者:
Bin Jiao
a
;
Beisha Tang
a
;
b
;
c
;
Xiaoyan Liu
a
;
Jun Xu
d
;
Yanjiang Wang
e
;
Lin Zhou
a
;
c
;
Fufeng Zhang
a
;
c
;
Xinxiang Yan
a
;
c
;
Yafang Zhou
a
;
c
;
Lu Shen
a
;
b
;
c
;
shenlu2505@126.com" class="auth_mail
关键词:
Early-onset familial Alzheimer's disease
;
Mutation
;
PSEN1
;
PSEN2
;
APP
;
C9orf72
刊名:Neurobiology of Aging
出版年:August 2014
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