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Elsevier电子期刊(38)
在“
Elsevier电子期刊
”中,
命中:
38
条,耗时:小于0.01 秒
在所有数据库中总计命中:
38
条
1.
Renal Fanconi Syndrome Is Caused by a Mistargeting-Based
Mitochondriopathy
作者:
Nadine Assmann
1
;
Katja Dettmer
1
;
Johann M.B. Simbuerger
1
;
Carsten Broeker
2
;
Nadine Nuernberger
1
;
Kathrin Renner
4
;
Holly Courtneidge
3
;
Enriko D. Klootwijk
3
;
Axel Duerkop
6
;
Andrew Hall
5
;
Robert Kleta
3
;
Peter J. Oefner
1
;
Markus Reichold
2
;
7
;
Joerg Reinders
1
;
7
;
joerg.reinders@ukr.de" class="auth_mail" title="E-mail the corresponding author
关键词:
Fanconi syndrome
;
mitochondriopathy
;
fatty acid oxidation
;
supercomplexes
刊名:Cell Reports
出版年:2016
2.
Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules
作者:
Nancy Leslie
;
MD
;
Xinjian Wang
;
PhD
;
Yanyan Peng
;
MS
;
C. Alexander Valencia
;
PhD
;
Zaza Khuchua
;
PhD
;
Jessica Hata
;
MD
;
David Witte
;
MD
;
Taosheng Huang
;
MD
;
PhD
;
Kevin E. Bove
;
MD
;
kevin.bove@uc.edu" class="auth_mail" title="E-mail the corresponding author
;
boveke@ucmail.uc.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Mitochondriopathy
;
Complex I deficiency
;
ACAD9 defect
;
Lethal neonatal lactic acidosis
;
Multiorgan failure
;
Metabolic disease
;
Mitochondrial hyperplasia
;
Whole-exome sequencing
刊名:Human Pathology
出版年:2016
3.
Combination of mitochondrial myopathy and biventricular hypertrabeculation/noncompaction
作者:
Jing Wang
a
;
Xiangquan Kong
a
;
Ping Han
a
;
Bo Hu
b
;
Fei Cao
b
;
Yuanyuan Liu
c
;
Qing Zhu
b
;
xhzhuqing@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Biventricular noncompaction
;
Mitochondrial myopathy
;
Hypertrabeculation
刊名:Neuromuscular Disorders
出版年:2016
4.
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
作者:
Cornelia Kö
;
hler
a
;
c.koehler@klinikum-bochum.de" class="auth_mail" title="E-mail the corresponding author
;
Christoph Heyer
b
;
Sabine Hoffjan
c
;
Susanne Stemmler
c
;
Thomas Lü
;
cke
a
;
Charlotte Thiels
a
;
Alfried Kohlschü
;
tter
d
;
Ulrike Lö
;
bel
e
;
Rita Horvath
f
;
Stephanie Kleinle
g
;
Anna Benet-Pages
g
;
Angela Abicht
g
关键词:
LBSL
;
DARS2
;
Mitochondriopathy
;
Leukoencephalopathy
;
Magnetic resonance imaging
刊名:Molecular and Cellular Probes
出版年:2015
5.
Macrocytic Anemia and
Mitochondriopathy
Resulting from a Defect in Sideroflexin 4
作者:
Gordon聽J. Hildick-Smith
;
Jeffrey聽D. Cooney
;
Caterina Garone
;
Laura聽S. Kremer
;
Tobias聽B. Haack
;
Jonathan聽N. Thon
;
Non Miyata
;
Daniel聽S. Lieber
;
Sarah聽E. Calvo
;
H.聽Orhan Akman
;
Yvette聽Y. Yien
;
Nicholas聽C. Huston
;
Diana聽S. Branco
;
Dhvanit聽I. Shah
;
Matthew聽L. Freedman
;
Carla聽M. Koehler
;
Joseph聽E. Italiano Jr.
;
Andreas Merkenschlager
;
Skadi Beblo
;
Tim聽M. Strom
;
et al.
刊名:The American Journal of Human Genetics
出版年:7 November, 2013
6.
The mitochondrial permeability transition pore regulates Parkinson's disease development in mutant 伪-synuclein transgenic mice
作者:
Lee J. Martin
;
Samantha Semenkow
;
Allison Hanaford
;
Margaret Wong
关键词:
Adenine nucleotide translocase
;
Interneuron
;
Porin
;
Ppif
;
Cerebellum
;
Voltage-dependent anion channel 1
刊名:Neurobiology of Aging
出版年:May, 2014
7.
Mitochondrial DNA m.3242G?>?A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
作者:
Saskia B. Wortmann
;
Michael P. Champion
;
Lambert van den Heuvel
;
H. Barth
;
B. Trutnau
;
Kate Craig
;
Martin Lammens
;
Michiel F. Schreuder
;
Robert W. Taylor
;
Jan A.M. Smeitink
;
Ron A. Wevers
;
Richard J. Rodenburg
;
Eva Morava
关键词:
CK elevation
;
Lipid myopathy
;
3-Methylglutaconic aciduria
;
Muscular hypotonia
;
MELAS syndrome
;
Mitochondriopathy
刊名:European Journal of Medical Genetics
出版年:2012
8.
Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer
作者:
Lorenza Putignani
a
;
lorenza.putignani@opbg.net
;
Salvatore Raffa
b
;
Roberta Pescosolido
c
;
Teresa Rizza
d
;
Federica Del Chierico
a
;
Laura Leone
b
;
Laura Aimati
b
;
Fabrizio Signore
e
;
Rosalba Carrozzo
d
;
Francesco Callea
f
;
Maria Rosaria Torrisi
b
;
Paola Grammatico
c
;
1
;
paola.grammatico@uniroma1.it
关键词:
CIEM
;
cryo-immunoelectron microscopy
;
COX
;
cytochrome c oxidase complex IV
;
COXI
;
cytochrome c oxidase complex IV subunit I
;
COXIV
;
cytochrome c oxidase complex IV subunit IV
;
EM
;
electron microscopy
;
F1¦Â ATP
;
synthase complex V F1¦Â subunit
;
HMC-1
;
huma
刊名:Mitochondrion
出版年:2012
9.
Investigation of children for
mitochondriopathy
confirms need for strict patient selection, improved morphological criteria, and better laboratory methods
作者:
Lili Miles
;
Brenda L. Wong
;
Argirios Dinopoulos
;
Paula J. Morehart
;
Irene A. Hofmann
;
Kevin E. Bove
关键词:
Mitochondriopathy
;
Children
;
Muscle biopsy
;
Electron transport complex
;
Histochemistry
;
Electron microscopy
刊名:Human Pathology
出版年:2006
10.
Respiration and ROS production in brain and spinal cord mitochondria of transgenic rats with mutant G93a Cu/Zn-superoxide dismutase gene
作者:
Alexander Panov
a
;
alexander.panov55@gmail.com"" rel=""nofollow
;
Nataliya Kubalik
a
;
Natalia Zinchenko
a
;
Richelle Hemendinger
a
;
Sergey Dikalov
c
;
Herbert L. Bonkovsky
a
;
b
关键词:
ALS
;
Amyotrophic lateral sclerosis
;
Transgenic SOD1
;
Oxidative phosphorylation
;
Reactive oxygen species
刊名:Neurobiology of Disease
出版年:2011
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