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Elsevier电子期刊(7)
在“
Elsevier电子期刊
”中,
命中:
7
条,耗时:小于0.01 秒
在所有数据库中总计命中:
7
条
1.
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene
作者:
Leonela N. Luce
a
;
1
;
leonelaluce@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Viviana Dalamon
b
;
Marcela Ferrer
c
;
Diana Parma
a
;
1
;
Irene Szijan
a
;
1
;
Florencia Giliberto
a
;
1
关键词:
BMD
;
Becker Muscular Dystrophy
;
CVS
;
Chorionic Villus Sample
;
DMD
;
Duchenne Muscular Dystrophy
;
MLPA
;
Multiplex Ligation-dependent Probe Amplification
;
PCR
;
Polymerase Chain Reaction
;
STR
;
Short Tandem-Repeat
;
XLDC
;
X-linked Dilated Cardiomiopathy
刊名:Journal of the Neurological Sciences
出版年:2016
2.
Mechanical and non-mechanical functions of Dystrophin can prevent cardiac abnormalities in Drosophila
作者:
Ouarda Taghli-Lamallem
;
Krzysztof Jagla
;
Jeffrey S. Chamberlain
;
Rolf Bodmer
关键词:
Dys
;
Dystrophin
;
DMD
;
Duchene muscular dystrophy
;
BMD
;
Becker muscular dystrophy
;
XLDC
M
;
X-linked dilated cardiomyopathy
;
DCM
;
Dilated cardiomyopathy
;
AAV
;
Adeno-associated virus
;
Dg
;
Dystroglycan
;
CR
;
Cysteine-rich domain
;
nNos
;
Neuronal nitric oxide synthase
;
Grb2
;
Growth factor receptor-bound protein 2
;
DGC
;
Dystrophin-glycoprotein complex
;
Utrn
;
Utrophin
;
Syn
;
Syntrophin
;
Dbr
;
Dystrobrevin
;
Dg
;
Dystroglycan
;
HPs
;
Heart periods
;
CT
;
Carboxy-terminal domain
;
NO
;
Nitric oxide
;
AI
;
Arrhythmia in
刊名:Experimental Gerontology
出版年:January, 2014
3.
Follow-up of three patients with a large in-frame deletion of exons 45–55 in the Duchenne muscular dystrophy (DMD
作者:
Akinori Nakamura
;
Kunihiro Yoshida
;
Kazuhiro Fukushima
;
Hideho Ueda
;
Nobuyuki Urasawa
;
Jun Koyama
;
Yoshikazu Yazaki
;
Masahide Yazaki
;
Toshiaki Sakai
;
Seiichi Haruta
;
Shin’
;
ichi Takeda
;
Shu-ichi Ikeda
关键词:
Duchenne muscular dystrophy gene
;
Dystrophin
;
Becker muscular dystrophy
;
X-linked dilated cardiomyopathy
;
cadiomyopathy
;
Dystrophin
刊名:Journal of Clinical Neuroscience
出版年:2008
4.
A Novel Muscle-Specific Enhancer Identified within the Deletion Overlap Region of Two
XLDC
Patients Lacking Muscle Exon 1 of the Human Dystrophin Gene
作者:
Bastianutto
;
Carlo
;
De Visser
;
Marianne
;
Muntoni
;
Francesco
;
Klamut
;
Henry J.
;
Patarnello
;
Tomaso
刊名:Genomics
出版年:2002
5.
Genomic definition of a pure intronic dystrophin deletion responsible for an
XLDC
splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality
作者:
Gualandi
;
Francesca
;
Rimessi
;
Paola
;
Cardazzo
;
Barbara
;
Toffolatti
;
Luisa
;
Dunckley
;
Matthew G.
;
et. al.
关键词:
Dystrophin
;
Dilated cardiomyopathy
;
Breakpoint definition
;
Splicing regulation
;
Mobile elements
;
LINE1
;
long interspersed repeated element type 1
;
CK
;
creatine kinase
;
SINE
;
short interspersed repeated element
;
SDS
;
sodium dodecyl sulphate
;
NaAc
;
sodium a
刊名:Gene
出版年:2003
6.
Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle
作者:
Sironi
;
Manuela
;
Bardoni
;
Alessandra
;
Felisari
;
Giorgio
;
Cagliani
;
Rachele
;
Robotti
;
Micaela
;
et. al.
关键词:
Dystrophin brain isoform
;
Dystrophin Purkinje-cell isoform
;
Duchenne/Becker muscular dystrophy
;
Skeletal muscle
;
Ectopic expression
刊名:Journal of the Neurological Sciences
出版年:2001
7.
X-linked dilated cardiomyopathy and the dystrophin gene
作者:
Ferlini
;
Alessandra
;
Sewry
;
Caroline
;
Melis
;
Maria Antonietta
;
Mateddu
;
Anna
;
Muntoni
;
Francesco
关键词:
Dystrophin gene
;
Cardiac muscle
;
Skeletal muscle
;
Protein domain
;
Epitope
;
Exon
;
Intron
;
Splicing
刊名:Neuromuscular Disorders
出版年:1999
1
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