Results 311 to 320 of about 54,763 (333)
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CONTINUUM: Lifelong Learning in Neurology, 2013
With transition to the genetic era, the number of muscular dystrophies has grown significantly, but so too has our understanding of their pathogenic underpinnings. Clinical features associated with each muscular dystrophy still guide us to the diagnosis. However, improved diagnostic abilities refine and expand phenotypic and genotypic correlates.
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With transition to the genetic era, the number of muscular dystrophies has grown significantly, but so too has our understanding of their pathogenic underpinnings. Clinical features associated with each muscular dystrophy still guide us to the diagnosis. However, improved diagnostic abilities refine and expand phenotypic and genotypic correlates.
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Facioscapulohumeral Muscular Dystrophy
CONTINUUM: Lifelong Learning in Neurology, 2022ABSTRACT PURPOSE OF REVIEW This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumeral muscular dystrophy (FSHD), as well as advances in targeted therapy development.
Mul, K., Mul, K.
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Oculopharyngeal muscular dystrophy: the muscular dystrophies
2001Abstract Sweden, Switzerland, Czech Republic, Taiwan, United Kingdom, United States, Uzbekistan, Uruguay and Yugoslavia. However, OPMD is particularly prevalent in the French–Canadian population (1 1000) and in Bukhara Jews living in Israel (1: 600) (Blumen et al. 1997; Brais et al. 1995).
Bernard Brais, Fernando M S Tomè
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Current Opinion in Genetics & Development, 1991
Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.
J. Wicki, J.T. Seto, J.S. Chamberlain
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Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.
J. Wicki, J.T. Seto, J.S. Chamberlain
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Neurology India, 2008
AbstractDuchenne muscular dystrophy, an X‐linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s.
Eppie M. Yiu +2 more
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AbstractDuchenne muscular dystrophy, an X‐linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s.
Eppie M. Yiu +2 more
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PHOSPHODIESTERS IN MUSCULAR DYSTROPHIES
Annals of the New York Academy of Sciences, 1979Phosphorus nuclear magnetic resonance studies of various normal and dystrophic muscles have demonstrated differences in phosphodiester contents. Dystrophic chicken pectoralis muscle contains elevated levels of the diester SEP, and Duchenne dystrophic human leg muscle lacks the diester GPC. It is shown that SEP may be characteristic of slow fiber types,
Thomas Glonek +4 more
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2013
Duchenne muscular dystrophy (DMD) is a complex disease characterized by multiple physiologic perturbations, progressively leading to cardiomyopathy, respiratory failure, and, eventually, death. Patients with DMD create unique challenges for the anesthesia team, including management of a difficult airway, avoidance of volatile anesthetics and ...
Renee Nierman Kreeger, James P Spaeth
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Duchenne muscular dystrophy (DMD) is a complex disease characterized by multiple physiologic perturbations, progressively leading to cardiomyopathy, respiratory failure, and, eventually, death. Patients with DMD create unique challenges for the anesthesia team, including management of a difficult airway, avoidance of volatile anesthetics and ...
Renee Nierman Kreeger, James P Spaeth
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Facioscapulohumeral Muscular Dystrophy
Comprehensive Physiology, 2017ABSTRACTFacioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities. While typically inherited as autosomal dominant, facioscapulohumeral muscular dystrophy (FSHD) has a complex ...
Anna Pakula +6 more
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Facioscapulohumeral muscular dystrophy
Current Opinion in Neurology, 2009Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front.The present brief review highlights some recent studies on the pathogenesis of facioscapulohumeral muscular dystrophy pointing to major involvement of muscle ...
Padberg, G.W.A.M., Engelen, B.G.M. van
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