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在“
Elsevier电子期刊
”中,
命中:
4
条,耗时:0.0969548 秒
在所有数据库中总计命中:
5
条
1.
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome
作者:
Brian Bennett
a
;
1
;
brian.bennett@mu.edu" class="auth_mail" title="E-mail the corresponding author
;
Daniel Helbling
b
;
dhelbling@mc
w
.edu" class="auth_mail" title="E-mail the corresponding author
;
Hui Meng
c
;
hmeng@mc
w
.edu" class="auth_mail" title="E-mail the corresponding author
;
Jason Jarzembo
w
ski
c
;
jjarzemb@mc
w
.edu" class="auth_mail" title="E-mail the corresponding author
;
Aron M. Geurts
d
;
ageurts@mc
w
.edu" class="auth_mail" title="E-mail the corresponding author
;
Marisa
W
.
Friederich
e
;
Marisa
.
Friederich
@ucdenver.edu" class="auth_mail" title="E-mail the corresponding author
;
Johan L.K. Van Hove
e
;
johan.vanhove@childrenscolorado.org" class="auth_mail" title="E-mail the corresponding author
;
Michael
W
. La
w
lor
c
;
mla
w
lor@mc
w
.edu" class="auth_mail" title="E-mail the corresponding author
;
David P. Dimmock
b
;
ddimmock@mc
w
.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
COX
;
cytochrome oxidase
;
M2
;
deoxyguanosine kinase-deficient rat model
;
DGUOK
;
deoxyguanosine kinase
;
EPR (ESR)
;
electron paramagnetic (spin) resonance (spectroscopy)
;
FeS
;
iron&ndash
;
sulfur (cluster)
;
H&E
;
hematoxylin and eosin
;
MD
;
mitochondrial disease
;
MDS
;
mitochondrial DNA depletion syndrome
;
MPV17
;
mitochondrial inner membrane protein
;
mtDNA
;
mitochondrial DNA
;
NADH
;
reduced nicotinamide adenine dinucleotide
;
POLG
;
DNA polymerase γ
;
SDH
;
succinate dehydrogenase
;
T
W
INKLE
;
a mitochondrial D
刊名:Free Radical Biology and Medicine
出版年:2016
2.
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings
w
ith Attenuated Nonketotic Hyperglycinemia
作者:
Kendra J. Bjoraker
;
PhD
1
;
&lo
w
ast
;
;
Michael A. S
w
anson
;
PhD
1
;
&lo
w
ast
;
;
Curtis R. Coughlin II
;
MS
;
MBe
1
;
John Christodoulou
;
MB
;
BS
;
PhD
2
;
Ee S. Tan
;
MB
;
BS
2
;
Mark Fergeson
;
MD
3
;
Sarah Dyack
;
MD
4
;
Ayesha Ahmad
;
MD
5
;
Marisa
W
.
Friederich
;
PhD
1
;
Elaine B. Spector
;
PhD
1
;
Geralyn Creadon-S
w
indell
;
BS
1
;
M. Antoinette Hodge
;
DPsych
6
;
Sommer Gaughan
;
RD
1
;
Casey Burns
;
RD
1
;
Johan L.K. Van Hove
;
MD
;
PhD
1
;
Johan.Vanhove@ucdenver.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
AE
;
Age equivalent
;
BASC
;
Behavior Assessment System for Children
;
DQ
;
Developmental quotient
;
Mullen scales
;
Mullen Scales of Early Learning
;
NKH
;
Nonketotic hyperglycinemia
;
NMDA
;
N-methyl-D-aspartate
;
W
PPSI
;
W
echsler Preschool and Primary Scale of Intelligence
刊名:The Journal of Pediatrics
出版年:2016
3.
Mutations in NDUFB10 result in isolated complex I deficiency due to incomplete assembly of complex I holoenzyme
作者:
Marisa
W
.
Friederich
a
;
Curtis R. Coughlin II
a
;
Courtney O'Rourke
a
;
Mark A. Lovell
b
;
Katherine Go
w
an
c
;
Johan L.K. Van Hove
a
刊名:Mitochondrion
出版年:2015
4.
A ne
w
mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease
w
ith infantile spasms
作者:
Carter D.
W
ray
;
Marisa
W
.
Friederich
;
Desiree du Sart
;
Sarah Pantaleo
;
Jo茅l Smet
;
Cathlin Kucera
;
Laura Fenton
;
Gunter Scharer
;
Rudy Van Coster
;
Johan L.K. Van Hove
关键词:
EEG
;
electroencephalogram
;
PAGE
;
polyacrylamide gel electrophoresis
;
mtDNA
;
mitochondrial DNA
;
LHON
;
Leber hereditary optic neuropathy
;
MELAS
;
mitochondrial encephalomyopathy
w
ith lactic acidosis and stroke like episodes
;
HRM
;
high resolution melt
;
PCR
;
polymerase chain reaction
刊名:Mitochondrion
出版年:November, 2013
1
按检索点细分(4)
作者(4)
按出版年细分(4)
2027年及以后(1)
2016年(2)
2015年(1)
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