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Dystrophin and mutations: one gene, several proteins, multiple phenotypes
F Muntoni, S Torelli, A Ferlini - The Lancet Neurology, 2003 - thelancet.com
A large and complex gene on the X chromosome encodes dystrophin. Many mutations have
been described in this gene, most of which affect the expression of the muscle isoform, the …
been described in this gene, most of which affect the expression of the muscle isoform, the …
Dystrophinopathies
Dystrophinopathies result from mutations of the DMD gene that primarily affect skeletal
muscle but also affect heart, brain, and smooth muscle. Advances in the genetic analysis of …
muscle but also affect heart, brain, and smooth muscle. Advances in the genetic analysis of …
Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity
OBJECTIVES This study was performed to evaluate the characteristics, mode of inheritance
and etiology of familial dilated cardiomyopathy (FDC). BACKGROUND A genetic form of …
and etiology of familial dilated cardiomyopathy (FDC). BACKGROUND A genetic form of …
Molecular mechanisms of inherited cardiomyopathies
D Fatkin, RM Graham - Physiological reviews, 2002 - journals.physiology.org
Cardiomyopathies are diseases of heart muscle that may result from a diverse array of
conditions that damage the heart and other organs and impair myocardial function, including …
conditions that damage the heart and other organs and impair myocardial function, including …
Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II
Genetic approaches have succeeded in defining the molecular basis of an increasing array
of heart diseases, such as hypertrophic cardiomyopathy and the long-QT syndromes …
of heart diseases, such as hypertrophic cardiomyopathy and the long-QT syndromes …
Cardiomyopathy, familial dilated
MRG Taylor, E Carniel, L Mestroni - Orphanet journal of rare diseases, 2006 - Springer
Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular
dilatation and impaired systolic function. Patients with DCM suffer from heart failure …
dilatation and impaired systolic function. Patients with DCM suffer from heart failure …
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
M Neri, S Torelli, S Brown, I Ugo, P Sabatelli… - Neuromuscular …, 2007 - Elsevier
Mutations in the dystrophin gene give rise to Duchenne and Becker muscular dystrophies
(DMD and BMD), in which both skeletal and cardiac muscles are affected, but also to X …
(DMD and BMD), in which both skeletal and cardiac muscles are affected, but also to X …
The role of cytoskeletal proteins in cardiomyopathies
JA Towbin - Current opinion in cell biology, 1998 - Elsevier
Cardiomyopathies are serious heart muscle disorders in children and adults, which result in
morbidity and premature death. These disorders include hypertrophic cardiomyopathy …
morbidity and premature death. These disorders include hypertrophic cardiomyopathy …
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy
P Melacini, M Fanin, GA Danieli, C Villanova… - Circulation, 1996 - ahajournals.org
Background Several cases of Becker's muscular dystrophy (BMD) have been reported,
which showed mild or subclinical skeletal muscle involvement with an overt dilated …
which showed mild or subclinical skeletal muscle involvement with an overt dilated …
Identification of the Syrian Hamster Cardiomyopathy Gene
The BIO14. 6 hamster is a widely used model for autosomal recessive cardiomyopathy.
These animals die prematurely from progressive myocardial necrosis and heart failure. The …
These animals die prematurely from progressive myocardial necrosis and heart failure. The …