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CNKI学位论文(14)
知网期刊论文(9)
在“
Elsevier电子期刊
”中,
命中:
13
条,耗时:0.035983 秒
在所有数据库中总计命中:
23
条
1.
Hypothyroidism could be the only manifestation of mitochondrial
T8993C
mutation in Leigh syndrome
作者:
Hoda Tomoum
a
;
Solaf M. Elsayed
b
;
elsayed683@yahoo.com
;
Elizabeth Berry-Kravis
c
关键词:
Leigh syndrome
;
Mitochondria
;
Hypothyroidism
刊名:Egyptian Journal of Medical Human Genetics
出版年:2013
2.
Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.
8993
T > C mutation in the MT-ATP6 gene
作者:
Bü
;
lent Kara
a
;
bulentkara@excite.com
;
Muzaffer Ar?kan
b
;
Hü
;
lya Mara?
a
;
Neslihan Abac?
b
;
Aris Ç
;
ak?ris
b
;
Duran Ü
;
stek
b
关键词:
mtDNA
;
MT-ATP6 gene
;
m.
8993
T
;
>
;
C ;
NARP/MILS
;
Heteroplasmy
刊名:Molecular Genetics and Metabolism
出版年:2012
3.
Unusual findings in Leigh syndrome caused by
T8993C
mutation
作者:
Uluç
;
Yiş
;
Sara Seneca
;
Eray Dı
;
rı
k ;
Semra Hı
;
z Kurul
;
Erdener Ö
;
zer
;
H
;
an Ç
;
akmakç
i ;
Linda De Meı
;
rleı
r
关键词:
Leigh syndrome
;
Mitochondrial m.
8993
T>
;
C mutation
;
Oligoclonal bands
刊名:European Journal of Paediatric Neurology
出版年:2009
4.
Biochemical consequences in yeast of the human mitochondrial DNA
8993
T > C mutation in the ATPase6 gene found in NARP/MILS patients
作者:
Roza Kucharczyk
;
Malgorzata Rak
;
Jean-Paul di Rago
关键词:
ATP6
;
F
1
F
0
ATP synthase
;
NARP/MILS disease
;
Mitochondrial DNA
;
Yeast
刊名:Biochimica et Biophysica Acta (BBA)/Molecular Cell Research
出版年:2009
5.
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at n
t8993
作者:
Aless
;
ra Baracca
;
Gianluca Sgarbi
;
Marina Mattiazzi
;
Gabriella Casalena
;
Eleonora Pagnotta
;
Maria L. Valentino
;
Maurizio Moggio
;
Giorgio Lenaz
;
Valerio Carelli
;
Giancarlo Solaini
关键词:
mtDNA
;
T8993C
;
ATP synthase
;
Membrane potential
;
ROS
;
Mitochondria
刊名:Biochimica et Biophysica Acta (BBA)/Bioenergetics
出版年:2007
6.
P283 Unusual findings in Leigh syndrome caused by
T8993C
mutation
作者:
U. Yiş
;
S. Seneca
;
E. Dirik
;
S. Hı
;
z Kurul
;
E. Ö
;
zer
;
H. Ç
;
akmakç
;
ı
;
L. De Meirleir
刊名:European Journal of Paediatric Neurology
出版年:2009
7.
S12.49 A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP)
T8993C
mutation in the mitochondrial ATP synthase-6 gene
作者:
Roza Kucharczyk
;
Jean-Paul di Rago
刊名:Biochimica et Biophysica Acta (BBA)/Bioenergetics
出版年:2008
8.
Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan
作者:
Yi-Chung Lee
;
Yi-Chun Lu
;
Ming-Hon Chang
;
Bing-Wen Soong
关键词:
SCA
;
Ataxia
;
POLG1
;
POLG
;
Mitochondria
;
MIRAS
刊名:Journal of the Neurological Sciences
出版年:2007
9.
NMP022 Heterogeneous clinical and MRI/MRS presentation of the mtDNA
T8993C
mutation in a large family with maternal inherited NARP/MILS
作者:
Georg M. Stettner
;
S. Dreha-Kulaczewski
;
J. Gä
;
rtner
;
E. Wilichowski
刊名:European Journal of Paediatric Neurology
出版年:2007
10.
Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies
关键词:
Mitochondrial encephalomyopathy
;
MELAS
;
MERRF
;
Leigh’
;
s syndrome
;
Mitochondrial DNA (mtDNA)
;
Mutation
刊名:Mitochondrion
出版年:2007
1
2
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