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内部出版物
在“
Elsevier电子期刊
”中,
命中:
9
条,耗时:小于0.01 秒
1.
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
作者:
Constanze Gallenm眉ller
;
Wolfgang M眉ller-Felber
;
Marina Dusl
;
Rolf
Stucka
;
Velina Guergueltcheva
;
Astrid Blaschek
;
Maja von der Hagen
;
Angela Huebner
;
Juliane S. M眉ller
;
Hanns Lochm眉ller
;
Angela Abicht
关键词:
AChR
;
acetylcholine receptor
;
AChE
;
acetylcholine esterase
;
CK
;
creatine kinase
;
CMAP
;
compound muscle action potential
;
CMS
;
congenital myasthenic syndrome
刊名:Neuromuscular Disorders
出版年:January, 2014
2.
Clinical and neuropathological findings in patients with TACO1 mutations
作者:
Jü
;
rgen Seeger
;
Bertold Schrank
;
Angela Pyle
;
Rolf
Stucka
;
Ulrich Lö
;
rcher
;
Solvig Mü
;
ller-Ziermann
;
Angela Abicht
;
Birgit Czermin
;
Elke Holinski-Feder
;
Hanns Lochmü
;
ller
;
Rita Horvath
关键词:
Leigh syndrome
;
Cytochrome
c
oxidase
;
Translation
;
TACO1
刊名:Neuromuscular Disorders
出版年:2010
3.
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome
作者:
Mü
;
ller
;
Juliane S.
;
Abicht
;
Angela
;
Christen
;
Hans-Jü
;
rgen
;
Stucka
;
Rolf
;
Schara
;
Ulrike
;
et. al.
关键词:
Congenital myasthenic syndrome
;
Rapsyn
;
Mutation N88K
;
Chromosomal deletion
;
Neuromuscular junction
刊名:Neuromuscular Disorders
出版年:2004
4.
Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice
作者:
Dunant
;
Patrick
;
Larochelle
;
Nancy
;
Thirion
;
Christian
;
Stucka
;
Rolf
;
Ursu
;
Daniel
;
Petrof
;
Basil J.
;
et. al.
关键词:
Duchenne muscular dystrophy
;
dystrophin
;
fiber type
;
muscle creatine kinase
;
mdx
;
muscle strength
刊名:Molecular Therapy
出版年:2003
5.
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase
作者:
Schmidt
;
Carolin
;
Abicht
;
Angela
;
Krampfl
;
Klaus
;
Voss
;
Wolfgang
;
Stucka
;
Rolf
;
Mildner
;
Gina
;
et. al.
关键词:
Congenital myasthenic syndrome
;
Episodic apnea
;
CHAT mutation
;
Choline acetyltransferase
刊名:Neuromuscular Disorders
出版年:2003
6.
Strategies for muscle-specific targeting of adenoviral gene transfer vectors
作者:
Thirion
;
Christian
;
Larochelle
;
Nancy
;
Volpers
;
Christoph
;
Dunant
;
Patrick
;
Stucka
;
Rolf
;
Holland
;
Paul
;
et. al.
关键词:
Adenoviral gene transfer
;
Gene transfer efficiency
;
Coxsackie-adenovirus receptor
;
Vector targeting
刊名:Neuromuscular Disorders
出版年:2002
7.
Strategies for muscle-specific targeting of adenoviral gene transfer vectors
作者:
Christian Thirion
;
Nancy Larochelle
;
Christoph Volpers
;
Patrick Dunant
;
Rolf
Stucka
;
Paul Holl
;
Josephine Nalbantoglu
;
Stefan Kochanek
;
Hanns Lochmü
;
ller
刊名:Neuromuscular Disorders
出版年:2002
8.
Characterization of Human SCO1 and COX17 Genes in Mitochondrial Cytochrome-c-Oxidase Deficiency
作者:
Horvath
;
Rita
;
Lochmü
;
ller
;
Hanns
;
Stucka
;
Rolf
;
Yao
;
Jianbo
;
Shoubridge
;
Eric A.
;
Kim
;
Sang-Ho
;
et. al.
刊名:Biochemical and Biophysical Research Communications
出版年:2000
9.
A modified alignment of human and rodent 5′ untranslated sequences of the acetylcholine receptor epsilon subunit gene reveals additional regions of high homology
作者:
Stucka
;
Rolf
;
Abicht
;
Angela
;
Song
;
In-Ho
;
Bö
;
nsch
;
Dominikus
;
Deufel
;
Thomas
;
Lochmü
;
ller
;
Hanns
刊名:Neuromuscular Disorders
出版年:2000
1
按检索点细分(9)
作者(9)
按出版年细分(9)
2027年及以后(1)
2010年(1)
2004年(1)
2003年(2)
2002年(2)
2000年(2)
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