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Cellular and animal models for facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing profound
Alec M. DeSimone +3 more
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A rare coincidence: facioscapulohumeral muscular dystrophy and breast cancer
Aim: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomally inherited neuromuscular disorder and may be associated with increased cancer risk.
Aksoy, S. +5 more
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Molecular diagnosis of facioscapulohumeral muscular dystrophy [review]
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited neuromuscular disorder after Duchenne muscular dystrophy and myotonic dystrophy.
Upadhyaya, Meena, Cooper, David Neil
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Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy that can affect individuals of all age groups. Its prevalence is reported to be 0.4-1 in 10,000 people. Because of the low occurrence of FSHD, anaesthetic management is primarily based
Mete Manici +4 more
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Ventilatory support in facioscapulohumeral muscular dystrophy.
Contains fulltext : 59113.pdf (Publisher’s version ) (Closed access)Respiratory insufficiency due to respiratory muscle weakness is a common complication of many neuromuscular diseases.
Wohlgemuth, M. +4 more
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Advanced microscopic and histochemical techniques: diagnostic tools in the molecular era of myology
Over the past two centuries, myology (i.e. the basic and clinical science of muscle and muscle disease) has passed through 3 stages of development: the classical period, the modern stage and the molecular era.
G Meola
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Creatine Phosphokinase in Facioscapulohumeral Muscular Dystrophy [PDF]
Study of the serum creatine kinase levels in young patients with facioscapulohumeral muscular dystrophy suggests that enzyme assay may be valuable as a screening procedure for assessing the status of relatives of an affected individual who have no previous clinical history, and that consequently it may be of use in genetic counselling.
openaire +2 more sources
Balance and walking in facioscapulohumeral muscular dystrophy: multiperspective assessment
BACKGROUND: In the Facioscapulohumeral muscular dystrophy (FSHD), the association of ankle muscle impairment with knee, hip and abdominal weakness causes complex alterations of static (postural) and dynamic (walking) balance, increasing the risk of ...
Padua, Luca +3 more
core
Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant muscular disorder associated with a short ...
Guazzi, Giancarlo +7 more
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Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature
Rimmed vacuoles (RV) are a characteristic pathological feature in inclusion body myositis, but may also occur in other neuromuscular disorders, such as distal myopathies, oculopharyngeal myopathy, polymyositis, rigid spine syndrome, congenital myopathies,
Krasnianski, M. +3 more
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