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内部出版物
在“
Elsevier电子期刊
”中,
命中:
50
条,耗时:小于0.01 秒
1.
Early cardiac involvement in an infantile Sandhoff disease case with novel mutations
作者:
Hsiu-Fen Lee
a
;
c
;
1
;
leehf@hotmail.com.tw
;
Ching-Shiang Chi
b
;
c
;
chi-cs@hotmail.com
;
Chi-Ren Tsai
a
;
d
;
1
;
n20248@vghtc.gov.tw
关键词:
Metabolic cardiomyopathy
;
Infantile Sandhoff disease
;
HEXB
gene mutation
;
Cardiac manifestations
;
Neurological features
刊名:Brain and Development
出版年:2017
2.
Real estate price and heterogeneous investment behavior in China
作者:
Ren Wang
a
;
renwang@hnu.edu.cn
;
Jie Hou
b
;
jie_hou_cueb@163.com
;
Xiaobei He
c
;
hexb
@cf40.org.cn
关键词:
Real estate price
;
Investment
;
Private firm
;
State-owned firm
刊名:Economic Modelling
出版年:2017
3.
Canine GM2-gangliosidosis (Sandhoff disease) caused by a 3 base pair deletion in the
HEXB
gene
刊名:Molecular Genetics and Metabolism
出版年:2017
4.
Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts
作者:
Keisuke Kitakaze
a
;
Chikako Tasaki
a
;
Youichi Tajima
b
;
Takatsugu Hirokawa
c
;
Daisuke Tsuji
a
;
Hitoshi Sakuraba
d
;
Kohji Itoh
a
;
kitoh@tokushima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author
关键词:
CI-M6PR
;
cation-independent M6P receptor
;
CM
;
conditioned medium
;
ERT
;
enzyme replacement therapy
;
GM2
;
GM2 ganglioside
;
GM2A
;
GM2 activator protein
;
Hex
;
β-hexosaminidase
;
LAMP-1
;
lysosomal associated membrane protein 1
;
LSD
;
lysosomal storage disease
;
M6P
;
mannose-6-phosphate
;
modB
;
modified
HexB
;
SD
;
Sandhoff disease
;
TSD
;
Tay-Sachs disease
刊名:Biochemistry and Biophysics Reports
出版年:2016
5.
Accumulated α-synuclein affects the progression of GM2 gangliosidoses
作者:
Kyoko Suzuki
a
;
Akira Yamaguchi
b
;
yamaguchiakira@mac.com" class="auth_mail" title="E-mail the corresponding author
;
Shoji Yamanaka
b
;
Seiichi Kanzaki
b
;
Masato Kawashima
b
;
Takashi Togo
a
;
Omi Katsuse
a
;
Noriko Koumitsu
c
;
Naoya Aoki
a
;
Eizo Iseki
d
;
Kenji Kosaka
a
;
Kayoko Yamaguchi
b
;
Makoto Hashimoto
e
;
Ichiro Aoki
b
;
Yoshio Hirayasu
a
关键词:
Sandhoff disease
;
GM2 gangliosidoses
;
Alpha-synuclein
;
Manganese superoxide dismutase 2
;
Autophagy
;
Reactive oxygen species
刊名:Experimental Neurology
出版年:2016
6.
Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease
作者:
Katie Richardson
a
;
1
;
Achilleas Livieratos
a
;
1
;
Richard Dumbill
a
;
Steven Hughes
b
;
Gauri Ang
a
;
David A. Smith
c
;
Lauren Morris
c
;
Laurence A. Brown
b
;
Stuart N. Peirson
b
;
Frances M. Platt
c
;
Kay E. Davies
a
;
kay.davies@dpag.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Peter L. Oliver
a
;
peter.oliver@dpag.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author
关键词:
Lysosome storage disorder
;
Ataxia
;
Mouse mutant
;
Circadian
刊名:Behavioural Brain Research
出版年:2016
7.
Homozygous p.R284* mutation in
HEXB
gene causing Sandhoff disease with nystagmus
作者:
Amira Masri
a
;
Jun Liao
b
;
Ruth Kornreich
b
;
Alireza Haghighi
c
;
d
;
haghighi@genetics.med.harvard.edu" class="auth_mail
;
haghighimd@yahoo.com" class="auth_mail
关键词:
Sandhoff disease
;
Nystagmus
;
HEXB
;
Jordan
刊名:European Journal of Paediatric Neurology
出版年:May 2014
8.
Priority colonization of Cinnamomum camphora litter by endophytes affects decomposition rate, fungal community and microbial activities under field conditions
作者:
Yonghui Lin
a
;
Xingbing He
a
;
b
;
hexb
2004@163.com" class="auth_mail" title="E-mail the corresponding author
;
hexb
@jsu.edu.cn" class="auth_mail" title="E-mail the corresponding author
;
Taowu Ma
a
;
Guomin Han
c
;
Changguo Xiang
b
关键词:
Cellulose
;
Enzyme activity
;
Fungal biomass
;
Fungal diversity
;
Lignin
;
CO2 release
刊名:Pedobiologia
出版年:2015
9.
Characterization of seven novel mutations on the
HEXB
gene in French Sandhoff patients
作者:
Pauline Gaignard
a
;
b
;
Jé
;
rô
;
me Fagart
c
;
Natalia Niemir
d
;
e
;
Jean-Philippe Puech
a
;
Emilie Azouguene
a
;
Jeanne Dussau
a
;
Catherine Caillaud
a
;
d
;
e
;
catherine.caillaud@inserm.fr
关键词:
HEXB
;
gene encoding the hexosaminidases ¦Â chain
;
HEXA
;
gene encoding the hexosaminidases ¦Á chain
;
Hex A
;
hexosaminidase A
;
Hex B
;
hexosaminidase B
;
SD
;
Sandhoff disease
;
GM2
;
monosialic ganglioside
;
DNA
;
desoxyribonucleic acid
;
cDNA
;
complementary DNA
刊名:Gene
出版年:2013
10.
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the
HEXB
, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in hu
作者:
Anna K.U. Sobek
a
;
Christina Evers
b
;
Gabriele Dekomien
a
;
gabriele.dekomien@rub.de
关键词:
MLPA
;
HEXB
;
GM2A
;
SMARCAL1
;
Deletion
;
Insertion
刊名:Molecular and Cellular Probes
出版年:2013
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