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内部出版物
SpringerLink电子期刊(3)
Elsevier电子期刊(8)
在“
Elsevier电子期刊
”中,
命中:
8
条,耗时:0.0169884 秒
在所有数据库中总计命中:
11
条
1.
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
作者:
Tobias B. Haack
a
;
b
;
Matteo Gorza
a
;
Katharina Danhauser
a
;
b
;
Johannes A. Mayr
c
;
Birgit Haberberger
b
;
Thomas Wieland
a
;
Laura Kremer
a
;
Valentina Strecker
d
;
Elisabeth Graf
a
;
Yasin Memari
e
;
Uwe Ahting
b
;
Robert Kopajtich
a
;
Saskia B. Wortmann
f
;
Richard J. Rodenburg
f
;
Urania Kotzaeridou
g
;
Georg F. Hoffmann
g
;
Wolfgang Sperl
c
;
Ilka Wittig
d
;
Ekkehard
Wilichowski
h
;
Gudrun Schottmann
i
;
Markus Schuelke
i
;
Barbara Plecko
j
;
Ulrich Stephani
k
;
Tim M. Strom
a
;
b
;
Thomas Meitinger
a
;
b
;
Holger Prokisch
a
;
b
;
Peter Freisinger
l
;
freisinger_p@klin-rt.de" class="auth_mail
关键词:
MTFMT
;
Mitochondrial translation
;
OXPHOS deficiency
;
Exome sequencing
;
Leigh syndrome
刊名:Molecular Genetics and Metabolism
出版年:March, 2014
2.
Autosomal-recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect
作者:
Ekkehard
Wilichowski
;
Angela Abicht
;
Hans Mayr
;
Rita Horvath
;
Wolfgang Sperl
;
Jutta G盲rtner
刊名:Mitochondrion
出版年:November, 2013
3.
Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome
作者:
Georg M. Stettner
a
;
stettner@vet.upenn.edu
;
Carlo Viscomi
b
;
Massimo Zeviani
b
;
Ekkehard
Wilichowski
a
;
Mathias Dutschmann
c
;
d
关键词:
Leigh syndrome
;
Surf1
gene
;
Respiratory rhythm
;
Mitochondria
;
COX deficiency
;
Hypoxia
;
Hyperventilation
;
Brainstem
;
Chemosensitivity
;
Ca
2+
homeostasis
刊名:Mitochondrion
出版年:2011
4.
Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial
作者:
Janbernd Kirschner
;
Joachim Schessl
;
Ulrike Schara
;
Bernd Reitter
;
Georg M Stettner
;
Elke Hobbiebrunken
;
Ekkehard
Wilichowski
;
Gü
;
nther Bernert
;
Simone Weiss
;
Florian Stehling
;
Gert Wieg
;
Wolfgan
刊名:Lancet Neurology
出版年:2010
5.
Magnetic Resonance Imaging and Proton Magnetic Resonance Spectroscopy of Megalencephaly and Dilated Virchow-Robin Spaces
作者:
Samuel Groeschel
;
Knut Brockmann
;
Peter Dechent
;
Ekkehard
Wilichowski
;
Jens Frahm and Folker Hanefeld
刊名:Pediatric Neurology
出版年:2006
6.
Current concepts of mitochondrial disorders in childhood
作者:
Astrid Borchert
;
Nicole I. Wolf
;
Ekkehard
Wilichowski
关键词:
autism treatment
;
language disorder
;
cholinergic
;
glutamate
;
behavioral disorder
;
alternative therapies
刊名:Seminars in Pediatric Neurology
出版年:2002
7.
Effectiveness of creatine monohydrate in mitochondrial encephalomyopathies
作者:
Komura
;
Kiyomi
;
Hobbiebrunken
;
Elke
;
Wilichowski
;
Ekkehard
K.G.
;
Hanefeld
;
Folker A.
刊名:Pediatric Neurology
出版年:2003
8.
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns–Sayre/MELAS overlap syndrome and A3243G mtDNA mutation
作者:
Wilichowski
;
Ekkehard
;
Christoph Korenke
;
Georg
;
Ruitenbeek
;
Wim
;
De Meirleir
;
Linda
;
Hagendorff
;
Angela
;
et. al.
关键词:
Kearns&ndash
;
Sayre syndrome
;
MELAS
;
Mitochondrial DNA
;
Pyruvate dehydrogenase
;
Respiratory chain
;
Combined oxidative phosphorylation deficiencies
刊名:Journal of the Neurological Sciences
出版年:1998
1
按检索点细分(8)
作者(8)
按出版年细分(8)
2027年及以后(2)
2011年(1)
2010年(1)
2006年(1)
2003年(1)
2002年(1)
2000年及以前(1)
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