Results 61 to 70 of about 39,875 (271)
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson +6 more
wiley +1 more source
Pharmacological management of Duchenne muscular dystrophy
, 2021 Duchenne muscular dystrophy is an inherited disorder mainly affecting males causing progressive skeletal and cardiac muscle weakness. The males can additionally have many complications, including cardiomyopathy, respiratory insufficiency, orthopedic ...
Gudmundsdottir, Andrea
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Artificial restoration of the linkage between laminin and dystroglycan ameliorates the disease progression of MDC1A muscular dystrophy at all stages [PDF]
, 2005 Laminin-α2 deficient congenital muscular dystrophy, classified as MDC1A, is a severe progressive muscle-wasting disease that leads to death in early childhood.
Meinen, Sarina
core +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims The identification of the risk of falling in Duchenne muscular dystrophy (DMD) is essential for the implementation of timely preventive approaches. This study aimed to examine the ability of the four square step test (FSST) and the 10‐m walk/run test (10MWRT) to discriminate between fallers and non‐fallers in children with ...
Numan Bulut +3 more
wiley +1 more source
With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies
Neurology and Clinical Neuroscience, EarlyView.ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley +1 more source
, 2016 With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M +8 more
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BMC Surgery, 2004 Background Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients.
Wever Jan +4 more
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Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
Studies on muscular dystrophy associated genes [PDF]
, 2007 Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
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Cardiac phenotype of Duchenne Muscular Dystrophy: Insights from cellular studies [PDF]
, 2013 Dilated cardiomyopathy is a serious and almost inevitable complication of Duchenne Muscular Dystrophy, a devastating and fatal disease of skeletal muscle resulting from the lack of functional dystrophin, a protein linking the cytoskeleton to the ...
Shirokova, Natalia +3 more
core +1 more source